ClinVar Miner

List of variants studied for Usher syndrome by Counsyl

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1135
Download table as spreadsheet
HGVS dbSNP
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.29T>C rs878853237
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) rs1555067608
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.133-2A>G rs782064437
NM_000260.4(MYO7A):c.133-7_146dup rs1555054558
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306
NM_000260.4(MYO7A):c.1401_1403dup (p.His468_Val469insGln) rs111033219
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) rs1555070062
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) rs1555070084
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.1798-3C>G rs1555076939
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.19-2A>G rs1555051384
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) rs1555054736
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369
NM_000260.4(MYO7A):c.2239_2240AG[1] (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) rs199979876
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876
NM_000260.4(MYO7A):c.285+1G>C rs782661097
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Gln1010_Gly1011insLeuHisProValVal) rs782367511
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) rs1180304045
NM_000260.4(MYO7A):c.3109-27_3109-7dup rs1555085333
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) rs1555061483
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.3375+3G>A rs397516299
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) rs782313913
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) rs782140421
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) rs775908821
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) rs781670345
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) rs1349274983
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) rs1555061692
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) rs1555092931
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) rs763469001
NM_000260.4(MYO7A):c.4033_4035TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) rs111534474
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.4153-10C>G rs397516306
NM_000260.4(MYO7A):c.4153-11C>T rs727503330
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4338_4340GAG[1] (p.Arg1448del) rs1432069074
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000260.4(MYO7A):c.4500_4501TG[1] (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4569-1G>A rs775792432
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.470+1G>A rs797044510
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) rs1555100610
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) rs767975012
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) rs754761542
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) rs1299898646
NM_000260.4(MYO7A):c.5637-173C>T rs207472020
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) rs1555106562
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286
NM_000260.4(MYO7A):c.5857-3C>A rs727505114
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) rs1397834886
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.593-4G>A rs876657534
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037
NM_000260.4(MYO7A):c.5956_5959TCAC[3] (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) rs747131589
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) rs1555109788
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) rs1555109806
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) rs1555110680
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) rs1555111077
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) rs1003695470
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) rs1555111501
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.736-3C>T rs1555063792
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_001142769.3(PCDH15):c.4410-943G>A rs1554816509
NM_001142769.3(PCDH15):c.4450C>A (p.Pro1484Thr) rs1554816211
NM_001142769.3(PCDH15):c.4454C>T (p.Pro1485Leu) rs1554816210
NM_001142769.3(PCDH15):c.4465G>T (p.Glu1489Ter) rs1554816196
NM_001142769.3(PCDH15):c.4492_4503del (p.Ala1498_Glu1501del) rs1554816165
NM_001142769.3(PCDH15):c.4519-1G>A rs1554815909
NM_001142771.2(PCDH15):c.4497+1077_4497+1082del rs1253885211
NM_001142771.2(PCDH15):c.4497+1257_4497+1258del rs1554815781
NM_001142771.2(PCDH15):c.4497+1297_4497+1300dup rs1343032451
NM_001142771.2(PCDH15):c.4497+1355_4497+1359dup rs1554815732
NM_001142771.2(PCDH15):c.4497+1403GAG[5] rs1272584101
NM_001142771.2(PCDH15):c.4497+1412G>T rs1467453189
NM_001142771.2(PCDH15):c.4497+1420del rs778088114
NM_001142771.2(PCDH15):c.4497+1511_4497+1519del rs1554815654
NM_001142771.2(PCDH15):c.4497+1523G>T rs755005336
NM_001142771.2(PCDH15):c.4497+1550C>T rs765589050
NM_001142771.2(PCDH15):c.4497+1559C>T rs368397508
NM_001142771.2(PCDH15):c.4497+1577GAA[3] rs774006219
NM_001142771.2(PCDH15):c.4497+1617_4497+1637del rs769671738
NM_001142771.2(PCDH15):c.4497+1708_4497+1711dup rs1554815534
NM_001142771.2(PCDH15):c.4498-1564T>C rs193186244
NM_001142771.2(PCDH15):c.4498-1648_4498-1644dup rs1554815468
NM_001142771.2(PCDH15):c.4498-1662del rs1554815484
NM_001142771.2(PCDH15):c.4498-1666G>T rs1297423576
NM_001142771.2(PCDH15):c.4498-1709_4498-1706dup rs1554815527
NM_001142771.2(PCDH15):c.4498-2A>G rs1554814991
NM_001142771.2(PCDH15):c.4514_4517dup (p.Lys1507fs) rs1442769492
NM_001142771.2(PCDH15):c.4534C>T (p.Arg1512Ter) rs770416107
NM_001142771.2(PCDH15):c.4548del (p.Ser1517fs) rs778963761
NM_001142771.2(PCDH15):c.4555_4560dup (p.Thr1519_Gly1520dup) rs1554814938
NM_001142771.2(PCDH15):c.4565_4568dup (p.Ser1523fs) rs1554814927
NM_001142771.2(PCDH15):c.4654_4661del (p.Ser1552fs) rs750833316
NM_001142771.2(PCDH15):c.4692_4695dup (p.Lys1566fs) rs757520086
NM_001142771.2(PCDH15):c.4740del (p.Asp1581fs) rs1554814800
NM_001142771.2(PCDH15):c.4814_4817dup (p.Met1606fs) rs760669176
NM_001142771.2(PCDH15):c.4869_4871dup (p.Asn1624dup) rs1554814729
NM_001142771.2(PCDH15):c.4880T>C (p.Val1627Ala) rs755487351
NM_001142771.2(PCDH15):c.4908_4909CA[1] (p.Thr1637fs) rs1320916581
NM_001142771.2(PCDH15):c.4908_4915del (p.Ser1636fs) rs1554814684
NM_001142771.2(PCDH15):c.4918C>T (p.Gln1640Ter) rs1554814683
NM_001142771.2(PCDH15):c.4932_4935dup (p.Ser1646Ter) rs1198732380
NM_001142771.2(PCDH15):c.4934_4937dup (p.Ser1646fs) rs1554814669
NM_001142771.2(PCDH15):c.4986_4988TGA[2] (p.Asp1664del) rs1554814635
NM_001142771.2(PCDH15):c.5041A>T (p.Lys1681Ter) rs1554814611
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_001195794.1(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001195794.1(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_001195794.1(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267
NM_001195794.1(CLRN1):c.218A>G (p.Gln73Arg) rs201008540
NM_001195794.1(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_001195794.1(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_001195794.1(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_001195794.1(CLRN1):c.454_460ACCAGGC[3] (p.Gln157fs) rs768093614
NM_001195794.1(CLRN1):c.658C>T (p.Arg220Ter) rs373208120
NM_001195794.1(CLRN1):c.6A>C (p.Pro2=) rs111033422
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_007123.5(USH2A):c.1039_1041del (p.Asp347del) rs1553250786
NM_007123.5(USH2A):c.1516_1518TAT[1] (p.Tyr507del) rs1553250595
NM_007123.5(USH2A):c.1586_1588CAA[1] (p.Thr530del) rs1553250409
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.2616del (p.Gly873_Val874insTer) rs1553320451
NM_007123.5(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_007123.5(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_007123.5(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_007123.5(USH2A):c.3158-47_3158-17del rs1553315049
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.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.3891del (p.Gln1298fs) rs1553313551
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.442_443inv (p.Phe148Asn) rs1553258038
NM_007123.5(USH2A):c.4521_4522insCAGTCA (p.Ser1508_Leu1509insGlnSer) rs1553310736
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_033056.4(PCDH15):c.-5_-3AGA[1] (p.Met1del) rs1555135527
NM_033056.4(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904
NM_033056.4(PCDH15):c.1305+1G>A rs758947077
NM_033056.4(PCDH15):c.1305+1G>C rs758947077
NM_033056.4(PCDH15):c.1305+1del rs1554833699
NM_033056.4(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_033056.4(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_033056.4(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_033056.4(PCDH15):c.157+1G>C rs1057516770
NM_033056.4(PCDH15):c.157+59097T>C rs75443986
NM_033056.4(PCDH15):c.158-16930T>C rs207470941
NM_033056.4(PCDH15):c.158-2A>T rs1304228309
NM_033056.4(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006
NM_033056.4(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_033056.4(PCDH15):c.1635_1636AT[1] (p.Thr545_Tyr546insTer) rs1554816541
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.4(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_033056.4(PCDH15):c.1785-2A>C rs1057516474
NM_033056.4(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_033056.4(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_033056.4(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888
NM_033056.4(PCDH15):c.1917+2T>C rs1554806149
NM_033056.4(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_033056.4(PCDH15):c.1997+1G>T rs763797356
NM_033056.4(PCDH15):c.1998-2A>G rs397517452
NM_033056.4(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_033056.4(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_033056.4(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_033056.4(PCDH15):c.2091+2T>C rs1554956023
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) rs781148814
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_033056.4(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_033056.4(PCDH15):c.2751+2T>C rs754543131
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.4(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_033056.4(PCDH15):c.2869-1G>T rs1554883705
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_033056.4(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_033056.4(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_033056.4(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_033056.4(PCDH15):c.3122+2T>A rs1554882546
NM_033056.4(PCDH15):c.3123-1G>A rs1554873550
NM_033056.4(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_033056.4(PCDH15):c.3233-2A>G rs1554872194
NM_033056.4(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_033056.4(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_033056.4(PCDH15):c.3374-1G>T rs1554852472
NM_033056.4(PCDH15):c.3416_3418ATC[1] (p.His1140del) rs1554852410
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3501+13A>G rs727503365
NM_033056.4(PCDH15):c.3501+1G>T rs1402893508
NM_033056.4(PCDH15):c.3502-2A>G rs1554836566
NM_033056.4(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_033056.4(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_033056.4(PCDH15):c.3717+1G>A rs748706627
NM_033056.4(PCDH15):c.3717+2dup rs1248401224
NM_033056.4(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_033056.4(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_033056.4(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_033056.4(PCDH15):c.3806+1G>C rs1554833227
NM_033056.4(PCDH15):c.3806+2T>C rs756692340
NM_033056.4(PCDH15):c.3807-2A>G rs1328440878
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
NM_033056.4(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_033056.4(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033056.4(PCDH15):c.3983+2dup rs1554827124
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.3984-2A>G rs1554824185
NM_033056.4(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_033056.4(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783
NM_033056.4(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_033056.4(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_033056.4(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_033056.4(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_033056.4(PCDH15):c.4211+1G>A rs1554823229
NM_033056.4(PCDH15):c.4211+1del rs1554823231
NM_033056.4(PCDH15):c.4211+2T>G rs753832779
NM_033056.4(PCDH15):c.4211+2dup rs1057517419
NM_033056.4(PCDH15):c.4214G>A (p.Arg1405His) rs143538460
NM_033056.4(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_033056.4(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_033056.4(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_033056.4(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_033056.4(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_033056.4(PCDH15):c.4308_4310GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_033056.4(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_033056.4(PCDH15):c.4367+1G>A rs1057516613
NM_033056.4(PCDH15):c.4367+2T>C rs1554822703
NM_033056.4(PCDH15):c.4368-14TCTTT[3] rs1452730552
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4368-76C>T rs375657329
NM_033056.4(PCDH15):c.4368-77G>A rs776152870
NM_033056.4(PCDH15):c.4368-77del rs1554821197
NM_033056.4(PCDH15):c.4368-79_4368-76del rs1554821194
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4435_4437CAA[1] (p.Gln1480del) rs1358121247
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4724_4726dup (p.Gln1576_Ser1577insArg) rs762814533
NM_033056.4(PCDH15):c.4725_4728TCAG[4] (p.Leu1580fs) rs770063261
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4895_4897dup (p.Leu1633_Thr1634insTyr) rs1554820541
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4964_4965CT[3] (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5134_5135CT[5] (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.5272_5274CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272_5274CCT[4] (p.Pro1760dup) rs754779351
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5363_5368TTCCTC[3] (p.1788_1789LP[3]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5511_5512CA[1] (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.5600_5603delinsT (p.Thr1867_Thr1868delinsMet) rs1554819686
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894
NM_033056.4(PCDH15):c.5628_5629GA[2] (p.Glu1878fs) rs794727570
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436
NM_033056.4(PCDH15):c.594+1G>T rs1057516470
NM_033056.4(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_033056.4(PCDH15):c.705+1G>A rs1554903842
NM_033056.4(PCDH15):c.705+2_705+3insTT rs1554903836
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.4(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_033056.4(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_033056.4(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_033056.4(PCDH15):c.92-515T>G rs1283842168
NM_052995.2(CLRN1):c.-103dup rs1553772899
NM_052995.2(CLRN1):c.-16_-3del rs1553772861
NM_052995.2(CLRN1):c.-28del rs1211060908
NM_052995.2(CLRN1):c.-32del rs1032160668
NM_052995.2(CLRN1):c.-49C>T rs758741442
NM_052995.2(CLRN1):c.108C>G (p.Thr36=) rs565400473
NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) rs374963432
NM_052995.2(CLRN1):c.144del (p.Phe48fs) rs1553772595
NM_052995.2(CLRN1):c.179G>A (p.Gly60Glu) rs779258184
NM_052995.2(CLRN1):c.205+1061A>T rs567709615
NM_052995.2(CLRN1):c.205+1102G>T rs1553772414
NM_052995.2(CLRN1):c.205+2dup rs1057516687
NM_052995.2(CLRN1):c.228_230del (p.Met76del) rs1553770929
NM_052995.2(CLRN1):c.25+2T>C rs778574679
NM_052995.2(CLRN1):c.274dup (p.Ile92fs) rs746523071
NM_052995.2(CLRN1):c.2T>G (p.Met1Arg) rs963890618
NM_052995.2(CLRN1):c.313C>T (p.Gln105Ter) rs376155416
NM_052995.2(CLRN1):c.3G>A (p.Met1Ile) rs780023517
NM_052995.2(CLRN1):c.63C>T (p.Ile21=) rs1231233910
NM_052995.2(CLRN1):c.73_77del (p.Val25fs) rs397517932
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629
NM_153676.4(USH1C):c.104+1G>A rs1287021691
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1210+5G>A rs372285784
NM_153676.4(USH1C):c.1211-1175del rs1207247951
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655
NM_153676.4(USH1C):c.1351_1356AAAGAG[1] (p.451_452KE[1]) rs1554957867
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Ser473_Glu474insTer) rs781176348
NM_153676.4(USH1C):c.1531-11A>G rs397517872
NM_153676.4(USH1C):c.1543_1551CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs) rs758580540
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) rs1554957020
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) rs1175090344
NM_153676.4(USH1C):c.1806del (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1806dup (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1807dup (p.Ile603fs) rs1554956941
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_153676.4(USH1C):c.1954_1955CA[1] (p.His652fs) rs766725582
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494
NM_153676.4(USH1C):c.2227-1G>T rs778110397
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2281-2A>G rs921755529
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.248+1G>A rs1482487617
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.2547-1G>T rs571304936
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.2656-1G>A rs747133793
NM_153676.4(USH1C):c.2661_2663TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716
NM_153676.4(USH1C):c.388-8T>A rs777486804
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.760-1G>T rs1187887456
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.877-1G>A rs771279169
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) rs1188025733
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.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.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.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.11231+1G>A rs111033382
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+1del rs1414935620
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.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.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.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.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.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.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.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.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.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.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.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.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.1558del (p.Cys520fs) rs878853410
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.1729T>C (p.Cys577Arg) rs1553327470
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.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.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.2414G>C (p.Gly805Ala) rs587783023
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.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.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.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.387del (p.Phe129fs) rs1484339054
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292
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.4397-1G>A rs199982344
NM_206933.3(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
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.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.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.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.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.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.6485+1G>A rs1553287070
NM_206933.3(USH2A):c.651+1G>A rs1553257761
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.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.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.7493del (p.Ser2498fs) rs1553274448
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.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.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.8212G>A (p.Asp2738Asn) rs750687826
NM_206933.3(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.3(USH2A):c.8262_8264del (p.Leu2755del) rs1553272199
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.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.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.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.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.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.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
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.10517C>T (p.Thr3506Met) rs397517966
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
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.10712C>T (p.Thr3571Met) rs202175091
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
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.11649A>G (p.Ile3883Met) rs397517975
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.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322
NM_206933.4(USH2A):c.12067-1G>C rs397517977
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.12362G>A (p.Arg4121His) rs397517980
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847
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.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.13808A>C (p.His4603Pro) rs727504551
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.14287G>A (p.Gly4763Arg) rs397517990
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.15281C>T (p.Pro5094Leu) rs727503714
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.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.1623G>A (p.Glu541=) rs146805130
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347
NM_206933.4(USH2A):c.2167+4C>T rs200638562
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.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.3045C>G (p.His1015Gln) rs541918040
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
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.3649G>A (p.Asp1217Asn) rs202247801
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
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.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567
NM_206933.4(USH2A):c.5858-12A>G rs727503727
NM_206933.4(USH2A):c.5858-1G>A rs397518023
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.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.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.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.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.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
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.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.