ClinVar Miner

List of variants reported as likely pathogenic for auditory system disease by Counsyl

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 806
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HGVS dbSNP
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-1G>C rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.1122+1G>A rs1482664387
NM_000082.3(ERCC8):c.173+1G>A rs1476095782
NM_000082.3(ERCC8):c.276-2A>G rs1554074597
NM_000082.3(ERCC8):c.399+1G>A rs774047625
NM_000082.3(ERCC8):c.482-2A>G rs1554073420
NM_000082.3(ERCC8):c.600dup (p.Ile201fs) rs1468231556
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.3(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.3(ERCC8):c.719-2A>G rs1554073117
NM_000082.3(ERCC8):c.719-2A>T rs1554073117
NM_000082.3(ERCC8):c.77+2T>G rs1554076239
NM_000082.3(ERCC8):c.843+1G>T rs1305258765
NM_000082.3(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000091.4(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.4(COL4A3):c.145-2_145-1del rs1491486533
NM_000091.4(COL4A3):c.1758+1G>A rs1553757096
NM_000091.4(COL4A3):c.1806_1814del (p.603_605SPG[1]) rs1444785718
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.1927+2T>C rs1158937060
NM_000091.4(COL4A3):c.1A>C (p.Met1Leu) rs1396602090
NM_000091.4(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.4(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.4(COL4A3):c.2223+1G>A rs1553759476
NM_000091.4(COL4A3):c.2323_2340del (p.772_774LPG[1]) rs1306992119
NM_000091.4(COL4A3):c.2328_2336del (p.772_774LPG[2]) rs1553759665
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.2535del (p.Leu846fs) rs993103826
NM_000091.4(COL4A3):c.2747-1G>C rs1196996393
NM_000091.4(COL4A3):c.279+1G>A rs202001097
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.4(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.4(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.4(COL4A3):c.3210+1G>A rs1553762314
NM_000091.4(COL4A3):c.3211-1G>C rs1553762936
NM_000091.4(COL4A3):c.325-1G>A rs762518741
NM_000091.4(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.4(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.4(COL4A3):c.3751+1G>A rs781566652
NM_000091.4(COL4A3):c.388-1G>T rs1553750900
NM_000091.4(COL4A3):c.3883-2A>G rs1553765265
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.4(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4640+1G>A rs1553766404
NM_000091.4(COL4A3):c.468+1G>A rs1553751122
NM_000091.4(COL4A3):c.468+1G>T rs1553751122
NM_000091.4(COL4A3):c.4756-1G>A rs1553766735
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.4(COL4A3):c.645+2T>C rs1553752199
NM_000091.4(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.4(COL4A3):c.829-2A>C rs1553753119
NM_000091.4(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.4(COL4A3):c.949_950del (p.Arg317fs) rs756133651
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000092.4(COL4A4):c.1029+2T>C rs1553682895
NM_000092.4(COL4A4):c.1030-2A>C rs1553681714
NM_000092.4(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.114+1G>C rs1553712110
NM_000092.4(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.4(COL4A4):c.1369+1G>A rs1553676230
NM_000092.4(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269
NM_000092.4(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511
NM_000092.4(COL4A4):c.1696+1G>A rs954701825
NM_000092.4(COL4A4):c.1696+1G>T rs954701825
NM_000092.4(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.4(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.4(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.4(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982
NM_000092.4(COL4A4):c.2546-1G>C rs1553641728
NM_000092.4(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.3151-2A>G rs1369097739
NM_000092.4(COL4A4):c.328-1G>A rs754669149
NM_000092.4(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357
NM_000092.4(COL4A4):c.372+2T>G rs1553696207
NM_000092.4(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.4(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.4(COL4A4):c.4333+2T>C rs755927061
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419
NM_000092.4(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.4(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.4(COL4A4):c.4809+1G>A rs1553612309
NM_000092.4(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.4(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.4(COL4A4):c.657+1G>T rs1553688696
NM_000092.4(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.4(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.4(COL4A4):c.975+1G>A rs1553683192
NM_000092.4(COL4A4):c.975+1G>C rs1553683192
NM_000092.5(COL4A4):c.1323_1340del rs773081522
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2287-2A>G rs754978734
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4063-1G>C rs766980240
NM_000124.4(ERCC6):c.422+1G>A rs1198472093
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887
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.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.285+1G>C rs782661097
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
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.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126
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.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4502_4503del (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.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.4845del (p.Asn1616fs) rs1555100625
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.494C>T (p.Thr165Met) rs111033174
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg) rs1057517042
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437
NM_000441.2(SLC26A4):c.1238del (p.Gln413fs) rs1057516354
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1342-1G>T rs1057517298
NM_000441.2(SLC26A4):c.1342-2A>C rs1413121429
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1438-2A>G rs1057516717
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1539_1544+6del rs1057516535
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>A rs397516420
NM_000441.2(SLC26A4):c.165-2A>G rs786204458
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter) rs778901860
NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter) rs786204502
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540
NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp) rs1057517161
NM_000441.2(SLC26A4):c.1966del (p.His656fs) rs1057516636
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2067del (p.Asn689fs) rs1057516796
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430
NM_000441.2(SLC26A4):c.2089+2T>A rs1554361624
NM_000441.2(SLC26A4):c.2090-1G>A rs1455597424
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs) rs1298217152
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2235+2T>C rs1554362815
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu) rs1345175795
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) rs1554354787
NM_000441.2(SLC26A4):c.454del (p.Val152fs) rs1554354801
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter) rs1057516678
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.765_765+3del rs756076960
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299
NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer) rs1057517246
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-19_932del rs1554357206
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_001290285.1(ERCC8):c.-78C>G rs143367518
NM_001290285.1(ERCC8):c.-83_-81delinsTG rs1131691783
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs) rs764503373
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs) rs1553403762
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer) rs1554816541
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.130_131del (p.Trp44fs) rs1555341993
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.257del (p.Thr86fs) rs1555341949
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.338_341dup (p.Phe115_Lys116insTer) rs1555341926
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.49_50del (p.Ser17fs) rs1555342007
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.668_671del (p.Lys223fs) rs1555341783
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_007123.5(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_007123.5(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_007123.5(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_007123.5(USH2A):c.3680dup (p.Cys1228fs) rs1553313793
NM_007123.5(USH2A):c.3891del (p.Gln1298fs) rs1553313551
NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_015120.4(ALMS1):c.10046del (p.Pro3349fs) rs1553416233
NM_015120.4(ALMS1):c.10079-1G>C rs1361885101
NM_015120.4(ALMS1):c.10134dup (p.Gln3379fs) rs1553416867
NM_015120.4(ALMS1):c.10216+1G>A rs374681570
NM_015120.4(ALMS1):c.10290_10291del (p.Lys3431fs) rs1553417044
NM_015120.4(ALMS1):c.10384+1G>A rs766366221
NM_015120.4(ALMS1):c.10538_10539insTGTCTTTCCAAGATTGGAA (p.Lys3513fs) rs1220975714
NM_015120.4(ALMS1):c.10547_10548insCA (p.Gln3517fs) rs1553418449
NM_015120.4(ALMS1):c.10549C>T (p.Gln3517Ter) rs375019820
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015120.4(ALMS1):c.10574_10575insCACATAGAGA (p.Glu3525delinsAspThrTer) rs1553418457
NM_015120.4(ALMS1):c.10816dup (p.Tyr3606fs) rs1553418505
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.10839dup (p.Arg3614fs) rs1553418512
NM_015120.4(ALMS1):c.10847del (p.Pro3616fs) rs1553418513
NM_015120.4(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_015120.4(ALMS1):c.11086del (p.Ser3696fs) rs1412574975
NM_015120.4(ALMS1):c.11547+1G>A rs1553418638
NM_015120.4(ALMS1):c.11619dup (p.Thr3874fs) rs1553421488
NM_015120.4(ALMS1):c.11669-1G>A rs750737346
NM_015120.4(ALMS1):c.11670del (p.Gly3891fs) rs1553421496
NM_015120.4(ALMS1):c.11703del (p.Lys3901fs) rs1553421626
NM_015120.4(ALMS1):c.11717_11720del (p.Val3906fs) rs932538480
NM_015120.4(ALMS1):c.11812dup (p.Met3938fs) rs757722767
NM_015120.4(ALMS1):c.11872+2T>A rs1553421657
NM_015120.4(ALMS1):c.1195dup (p.Trp399fs) rs1553400778
NM_015120.4(ALMS1):c.1199_1205del (p.Thr400fs) rs761292021
NM_015120.4(ALMS1):c.12078del (p.Arg4027fs) rs1553421739
NM_015120.4(ALMS1):c.12086_12089del (p.Leu4029fs) rs1553421741
NM_015120.4(ALMS1):c.12107_12108del (p.Ala4036fs) rs1553421752
NM_015120.4(ALMS1):c.12114+1G>T rs376719320
NM_015120.4(ALMS1):c.12178_12180delinsTT (p.Lys4061fs) rs1553421886
NM_015120.4(ALMS1):c.12299-1G>A rs1313101326
NM_015120.4(ALMS1):c.12305_12308del (p.Phe4102fs) rs1553422035
NM_015120.4(ALMS1):c.1240+2T>C rs916056435
NM_015120.4(ALMS1):c.12462+1del rs750907119
NM_015120.4(ALMS1):c.1250del (p.Gln417fs) rs1553400956
NM_015120.4(ALMS1):c.1432+1G>T rs1553401634
NM_015120.4(ALMS1):c.1432+2_1432+15del rs1203193062
NM_015120.4(ALMS1):c.1560del (p.Gln520fs) rs1553403262
NM_015120.4(ALMS1):c.164T>A (p.Leu55Ter) rs755760721
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.191_192delinsC (p.Gln64fs) rs1553396238
NM_015120.4(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_015120.4(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_015120.4(ALMS1):c.2133_2137del (p.Val712fs) rs1553403401
NM_015120.4(ALMS1):c.2179dup (p.Tyr727fs) rs771459937
NM_015120.4(ALMS1):c.2224dup (p.Thr742fs) rs769291842
NM_015120.4(ALMS1):c.2296_2299del (p.Ser766fs) rs1457500348
NM_015120.4(ALMS1):c.2755dup (p.Ser919fs) rs1230351650
NM_015120.4(ALMS1):c.2793dup (p.Ala932fs) rs1553403560
NM_015120.4(ALMS1):c.286C>T (p.Gln96Ter) rs750326619
NM_015120.4(ALMS1):c.287dup (p.His97fs) rs1553396293
NM_015120.4(ALMS1):c.299C>A (p.Ser100Ter) rs1553396296
NM_015120.4(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_015120.4(ALMS1):c.3044_3045delinsT (p.Gln1015fs) rs1553403598
NM_015120.4(ALMS1):c.325-1G>A rs764337753
NM_015120.4(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_015120.4(ALMS1):c.3340del (p.Glu1114fs) rs1553403656
NM_015120.4(ALMS1):c.3492_3501del (p.His1164fs) rs1553403685
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015120.4(ALMS1):c.362_363del (p.Ile121fs) rs1553398842
NM_015120.4(ALMS1):c.3690_3691del (p.Gly1231fs) rs1296683633
NM_015120.4(ALMS1):c.4252del (p.Arg1418fs) rs1553403851
NM_015120.4(ALMS1):c.430C>T (p.Gln144Ter) rs150825781
NM_015120.4(ALMS1):c.4334del (p.Pro1445fs) rs1553403864
NM_015120.4(ALMS1):c.4350dup (p.Glu1451Ter) rs778728424
NM_015120.4(ALMS1):c.4428del (p.Ser1477fs) rs1553403882
NM_015120.4(ALMS1):c.5013_5035del (p.Lys1671fs) rs1553403989
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.5199_5200del (p.Gln1734fs) rs1553404028
NM_015120.4(ALMS1):c.5418del (p.Tyr1807fs) rs1553404066
NM_015120.4(ALMS1):c.5465del (p.Pro1822fs) rs770264966
NM_015120.4(ALMS1):c.5625del (p.Ala1876fs) rs1057517445
NM_015120.4(ALMS1):c.5863del (p.Glu1955fs) rs1553404150
NM_015120.4(ALMS1):c.5889del (p.Glu1964fs) rs1553404156
NM_015120.4(ALMS1):c.5981_5982del (p.Lys1994fs) rs1553404180
NM_015120.4(ALMS1):c.6486_6489del (p.Thr2163fs) rs1553404252
NM_015120.4(ALMS1):c.6573_6576dup (p.Gly2193fs) rs1553404277
NM_015120.4(ALMS1):c.6693del (p.Val2232fs) rs1553404305
NM_015120.4(ALMS1):c.6775del (p.Thr2259fs) rs1553404310
NM_015120.4(ALMS1):c.6800T>A (p.Leu2267Ter) rs761071372
NM_015120.4(ALMS1):c.6840del (p.Pro2281fs) rs1553404337
NM_015120.4(ALMS1):c.6901del (p.Val2301fs) rs1553404358
NM_015120.4(ALMS1):c.6928dup (p.Thr2310fs) rs1553404368
NM_015120.4(ALMS1):c.698dup (p.Leu233fs) rs1553400437
NM_015120.4(ALMS1):c.712G>T (p.Glu238Ter) rs989080548
NM_015120.4(ALMS1):c.7229del (p.Thr2410fs) rs1553404423
NM_015120.4(ALMS1):c.7240dup (p.Ser2414fs) rs1553404426
NM_015120.4(ALMS1):c.7333_7334delinsATA (p.Leu2445fs) rs1553404457
NM_015120.4(ALMS1):c.7376_7379del (p.Asp2459fs) rs1370417967
NM_015120.4(ALMS1):c.7391_7395dup (p.Val2466fs) rs1553404473
NM_015120.4(ALMS1):c.7457del (p.Asn2486fs) rs1217507627
NM_015120.4(ALMS1):c.756_757insA (p.Ala253fs) rs748892226
NM_015120.4(ALMS1):c.7675-2A>G rs748477695
NM_015120.4(ALMS1):c.772del (p.Ile258fs) rs1553400675
NM_015120.4(ALMS1):c.7830del (p.Ser2611fs) rs1553409617
NM_015120.4(ALMS1):c.8001_8016dup (p.Phe2673fs) rs1553409656
NM_015120.4(ALMS1):c.806_808del (p.Ser269_Arg270delinsTer) rs758952057
NM_015120.4(ALMS1):c.8136del (p.Phe2712fs) rs1553409683
NM_015120.4(ALMS1):c.8144_8151del (p.Ser2715fs) rs1553409686
NM_015120.4(ALMS1):c.8155dup (p.Ser2719fs) rs1553409691
NM_015120.4(ALMS1):c.8352_8355del (p.Lys2784_Glu2785insTer) rs1553409710
NM_015120.4(ALMS1):c.8721dup (p.Ser2908fs) rs1553409764
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Ter) rs1553409778
NM_015120.4(ALMS1):c.928_929insT (p.Gln310fs) rs1553400709
NM_015120.4(ALMS1):c.9539+1G>T rs1553409901
NM_015120.4(ALMS1):c.9763_9764dup (p.Phe3256fs) rs1553412797
NM_015120.4(ALMS1):c.9818_9831del (p.Gly3273fs) rs1553414071
NM_015120.4(ALMS1):c.9900dup (p.Ser3301fs) rs754702823
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.145G>T (p.Glu49Ter) rs1168400018
NM_033056.4(PCDH15):c.157+1G>C rs1057516770
NM_033056.4(PCDH15):c.158-2A>T rs1304228309
NM_033056.4(PCDH15):c.1627del (p.Glu543fs) rs1057516892
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.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.2052C>A (p.Tyr684Ter) rs1554956088
NM_033056.4(PCDH15):c.2091+2T>C rs1554956023
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) rs781148814
NM_033056.4(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_033056.4(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
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.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.3441dup (p.Phe1148fs) rs770832663
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.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.3885_3889dup (p.Ala1297fs) rs1057516780
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.3984-2A>G rs1554824185
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
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.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.4313del (p.Pro1438fs) rs1057516351
NM_033056.4(PCDH15):c.4367+1G>A rs1057516613
NM_033056.4(PCDH15):c.4367+2T>C rs1554822703
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
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.7C>T (p.Arg3Ter) rs137853001
NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_033056.4(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_144612.6(LOXHD1):c.4096-1G>C rs749861944
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375
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.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2227-1G>T rs778110397
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.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.248+1G>A rs1482487617
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777
NM_153676.4(USH1C):c.579+1G>C rs1283092935
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.819+1G>A rs1554961152
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.877-1G>A rs771279169
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432
NM_174878.3(CLRN1):c.372del (p.Phe124fs) rs1553772595
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_174878.3(CLRN1):c.433+2dup rs1057516687
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
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.10388-2A>G rs1553261479
NM_206933.3(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.3(USH2A):c.10586-2A>G rs370327669
NM_206933.3(USH2A):c.10596_10597insAT (p.Tyr3533fs) rs1553261387
NM_206933.3(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.3(USH2A):c.10842_10845del (p.Glu3614fs) rs1553261118
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
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.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.3(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
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.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.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.3(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
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.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.13337delinsGTC (p.Asn4446fs) rs1553252389
NM_206933.3(USH2A):c.13556del (p.Ile4518_Leu4519insTer) rs1553252363
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.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.3(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.3(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.3(USH2A):c.14344-1G>A rs919142559
NM_206933.3(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
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.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.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.3(USH2A):c.14965_14968dup (p.Thr4990fs) rs781625683
NM_206933.3(USH2A):c.14969-1G>A rs1553249311
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.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.3(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.3(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.1A>G (p.Met1Val) rs924627806
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.2994-2A>G rs1553316430
NM_206933.3(USH2A):c.3317-1G>A rs1553313909
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.3(USH2A):c.387del (p.Phe129fs) rs1484339054
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.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.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.4988-2A>G rs143521854
NM_206933.3(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984
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.5499_5511del (p.Asn1834fs) rs1553299046
NM_206933.3(USH2A):c.5572+1G>A rs775293551
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.5883_5884del (p.Arg1962fs) rs1553297684
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
NM_206933.3(USH2A):c.6050-2A>G rs772124060
NM_206933.3(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
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.6805+1G>T rs1553285919
NM_206933.3(USH2A):c.6810del (p.Ile2271fs) rs1553282707
NM_206933.3(USH2A):c.6868dup (p.Ser2290fs) rs1553282698
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.7130dup (p.Asn2377fs) rs1553277866
NM_206933.3(USH2A):c.7493del (p.Ser2498fs) rs1553274448
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.7620del (p.Leu2541fs) rs1553273412
NM_206933.3(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.3(USH2A):c.8391del (p.Gly2799fs) rs1553272176
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8682-1G>A rs1553271001
NM_206933.3(USH2A):c.8682-2A>C rs1553271002
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.9055+1G>A rs1553268562
NM_206933.3(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.3(USH2A):c.9191del (p.Thr3064fs) rs1553268435
NM_206933.3(USH2A):c.9258+1G>T rs748810737
NM_206933.3(USH2A):c.9453T>A (p.Tyr3151Ter) rs1553265829
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.3(USH2A):c.9959-1G>A rs970237364
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12295-2A>G rs151148854
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs) rs1553252409
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs) rs1553313844
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs) rs1553281890
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs) rs1553272035
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs) rs1553268434
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272

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