ClinVar Miner

List of variants in gene USH2A reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 875
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HGVS dbSNP
GRCh37/hg19 1q41(chr1:215970331-216084727)x1
GRCh37/hg19 1q41(chr1:216208820-216274814)x1
GRCh37/hg19 1q41(chr1:216275329-216565051)x3
GRCh37/hg19 1q41(chr1:216405003-216565051)x1
NC_000001.10:g.(?_215799123)_(215901746_?)dup
NC_000001.10:g.(?_215987078)_(216108137_?)dup
NC_000001.10:g.(?_216591856)_(216595678_?)dup
NC_000001.11:g.(?_215758595)_(215759843_?)dup
NM_007123.5(USH2A):c.1181C>G (p.Pro394Arg) rs775922302
NM_007123.5(USH2A):c.1346G>A (p.Arg449His) rs766715882
NM_007123.5(USH2A):c.1377T>A (p.Pro459=) rs1064797140
NM_007123.5(USH2A):c.1412A>G (p.Tyr471Cys) rs794727938
NM_007123.5(USH2A):c.146T>A (p.Val49Asp) rs1553258115
NM_007123.5(USH2A):c.1510C>A (p.His504Asn) rs533024548
NM_007123.5(USH2A):c.151A>G (p.Ile51Val) rs886043442
NM_007123.5(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_007123.5(USH2A):c.1672G>A (p.Asp558Asn) rs1553327490
NM_007123.5(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_007123.5(USH2A):c.1840+4A>G rs749288291
NM_007123.5(USH2A):c.1886G>T (p.Gly629Val) rs754159296
NM_007123.5(USH2A):c.1891G>A (p.Asp631Asn) rs552400144
NM_007123.5(USH2A):c.1903A>G (p.Ile635Val) rs201808654
NM_007123.5(USH2A):c.2202A>G (p.Lys734=) rs1416725341
NM_007123.5(USH2A):c.2218A>T (p.Asn740Tyr) rs1229489278
NM_007123.5(USH2A):c.2416A>G (p.Thr806Ala) rs1057519163
NM_007123.5(USH2A):c.2777G>T (p.Arg926Leu) rs146916397
NM_007123.5(USH2A):c.2835C>T (p.Ala945=) rs1311224729
NM_007123.5(USH2A):c.2992A>G (p.Arg998Gly) rs794727135
NM_007123.5(USH2A):c.2999A>C (p.Gln1000Pro) rs1486615749
NM_007123.5(USH2A):c.299T>C (p.Leu100Pro) rs1558082163
NM_007123.5(USH2A):c.3169C>G (p.Gln1057Glu) rs1558317549
NM_007123.5(USH2A):c.3316+6T>C rs373631038
NM_007123.5(USH2A):c.3317-8C>A rs886044611
NM_007123.5(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_007123.5(USH2A):c.3664G>A (p.Ala1222Thr) rs761752531
NM_007123.5(USH2A):c.3861A>G (p.Lys1287=) rs750789180
NM_007123.5(USH2A):c.3887T>C (p.Val1296Ala) rs552551256
NM_007123.5(USH2A):c.3899G>A (p.Ser1300Asn) rs772408328
NM_007123.5(USH2A):c.4071G>A (p.Thr1357=) rs745962568
NM_007123.5(USH2A):c.4136A>G (p.Asn1379Ser) rs752569816
NM_007123.5(USH2A):c.4282T>C (p.Ser1428Pro) rs369185265
NM_007123.5(USH2A):c.4383A>G (p.Gln1461=) rs978359064
NM_007123.5(USH2A):c.4490C>T (p.Ser1497Phe) rs755482100
NM_007123.5(USH2A):c.792G>A (p.Glu264=) rs886043440
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10126T>G (p.Tyr3376Asp) rs150617613
NM_206933.3(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.3(USH2A):c.10341C>T (p.Ala3447=) rs372015149
NM_206933.3(USH2A):c.10388-17_10388-7del rs1442627890
NM_206933.3(USH2A):c.10413A>G (p.Thr3471=) rs530322386
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.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.3(USH2A):c.10497T>C (p.Pro3499=) rs749177032
NM_206933.3(USH2A):c.10609C>T (p.Leu3537Phe) rs138656755
NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491
NM_206933.3(USH2A):c.10693T>C (p.Tyr3565His) rs1553261365
NM_206933.3(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900
NM_206933.3(USH2A):c.10901A>G (p.His3634Arg) rs1553261102
NM_206933.3(USH2A):c.10928A>G (p.His3643Arg) rs772499596
NM_206933.3(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.3(USH2A):c.11013T>G (p.Pro3671=) rs777699434
NM_206933.3(USH2A):c.11124C>G (p.Pro3708=) rs773828586
NM_206933.3(USH2A):c.11189A>G (p.Glu3730Gly) rs1341032857
NM_206933.3(USH2A):c.11230A>G (p.Arg3744Gly) rs1426369789
NM_206933.3(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139
NM_206933.3(USH2A):c.11506C>T (p.Pro3836Ser) rs371987720
NM_206933.3(USH2A):c.11585C>G (p.Thr3862Arg) rs886044126
NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12067-4A>G rs1558051325
NM_206933.3(USH2A):c.12122T>C (p.Ile4041Thr) rs1558051246
NM_206933.3(USH2A):c.12128T>G (p.Val4043Gly) rs376528829
NM_206933.3(USH2A):c.12271A>G (p.Met4091Val) rs144168442
NM_206933.3(USH2A):c.12273G>A (p.Met4091Ile) rs751834009
NM_206933.3(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017
NM_206933.3(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.3(USH2A):c.12443T>C (p.Leu4148Pro) rs886042767
NM_206933.3(USH2A):c.12455A>G (p.Glu4152Gly) rs768614804
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.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.3(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.3(USH2A):c.12897G>T (p.Arg4299Ser) rs143898511
NM_206933.3(USH2A):c.12997C>G (p.Leu4333Val) rs770620234
NM_206933.3(USH2A):c.13004C>A (p.Ala4335Asp) rs771748964
NM_206933.3(USH2A):c.13078A>G (p.Ser4360Gly) rs794727825
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13198G>T (p.Ala4400Ser) rs541022183
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13250A>G (p.Tyr4417Cys) rs794727826
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013
NM_206933.3(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283
NM_206933.3(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139
NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406
NM_206933.3(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345
NM_206933.3(USH2A):c.13586C>T (p.Pro4529Leu) rs754560573
NM_206933.3(USH2A):c.13649T>G (p.Val4550Gly) rs553956503
NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136
NM_206933.3(USH2A):c.13832C>G (p.Ala4611Gly) rs376077079
NM_206933.3(USH2A):c.1397G>T (p.Gly466Val) rs1553250627
NM_206933.3(USH2A):c.14073C>T (p.Asn4691=) rs370364142
NM_206933.3(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.1438G>A (p.Val480Ile) rs138694314
NM_206933.3(USH2A):c.14408T>C (p.Ile4803Thr) rs1056524280
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
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.14642G>C (p.Ser4881Thr) rs200949691
NM_206933.3(USH2A):c.14760C>T (p.Ser4920=) rs778669346
NM_206933.3(USH2A):c.14832G>T (p.Leu4944Phe) rs556415914
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15238G>T (p.Val5080Leu) rs1558031463
NM_206933.3(USH2A):c.15306C>G (p.Ala5102=) rs149506333
NM_206933.3(USH2A):c.15306C>T (p.Ala5102=) rs149506333
NM_206933.3(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.3(USH2A):c.1541T>C (p.Ile514Thr) rs768813865
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.1678C>G (p.Pro560Ala) rs147509797
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2139C>T (p.Gly713=) rs765293412
NM_206933.3(USH2A):c.232T>G (p.Phe78Val) rs775094277
NM_206933.3(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.3(USH2A):c.2459A>G (p.Asn820Ser) rs34447581
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.253A>G (p.Ile85Val) rs770983063
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.3(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.3(USH2A):c.3581C>T (p.Pro1194Leu) rs145114751
NM_206933.3(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.3(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.3(USH2A):c.4016T>G (p.Val1339Gly) rs781668118
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4146G>C (p.Trp1382Cys) rs753908845
NM_206933.3(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107
NM_206933.3(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.4646G>C (p.Arg1549Pro) rs190170807
NM_206933.3(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079
NM_206933.3(USH2A):c.4803A>T (p.Gln1601His) rs761306493
NM_206933.3(USH2A):c.4882A>T (p.Thr1628Ser) rs794727386
NM_206933.3(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.3(USH2A):c.4946G>A (p.Gly1649Glu) rs1558251710
NM_206933.3(USH2A):c.4949G>C (p.Gly1650Ala) rs1558251708
NM_206933.3(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984
NM_206933.3(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499
NM_206933.3(USH2A):c.5111A>T (p.Asn1704Ile) rs764080143
NM_206933.3(USH2A):c.5265C>T (p.Phe1755=) rs147371835
NM_206933.3(USH2A):c.5359G>A (p.Val1787Met) rs1558246687
NM_206933.3(USH2A):c.5410A>G (p.Ile1804Val) rs201804063
NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414
NM_206933.3(USH2A):c.553A>G (p.Met185Val) rs770266757
NM_206933.3(USH2A):c.5608C>T (p.Arg1870Trp) rs144768593
NM_206933.3(USH2A):c.5619C>T (p.Val1873=) rs138416665
NM_206933.3(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.3(USH2A):c.5698T>C (p.Cys1900Arg) rs201026468
NM_206933.3(USH2A):c.5802G>A (p.Ser1934=) rs149776188
NM_206933.3(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_206933.3(USH2A):c.5921C>T (p.Thr1974Ile) rs1558241630
NM_206933.3(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291
NM_206933.3(USH2A):c.6032A>G (p.Asn2011Ser) rs1371723634
NM_206933.3(USH2A):c.6094C>T (p.Leu2032=) rs1385829693
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6133C>T (p.His2045Tyr) rs749333215
NM_206933.3(USH2A):c.6175G>A (p.Val2059Ile) rs767444125
NM_206933.3(USH2A):c.6225G>C (p.Trp2075Cys) rs1553294134
NM_206933.3(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964
NM_206933.3(USH2A):c.6554A>G (p.His2185Arg) rs1064797135
NM_206933.3(USH2A):c.6581A>G (p.Tyr2194Cys) rs1553286786
NM_206933.3(USH2A):c.6618A>G (p.Gln2206=) rs745614158
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082
NM_206933.3(USH2A):c.6958-10A>G rs727504213
NM_206933.3(USH2A):c.6988G>A (p.Glu2330Lys) rs926377709
NM_206933.3(USH2A):c.7051G>A (p.Ala2351Thr) rs886042178
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) rs201386640
NM_206933.3(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577
NM_206933.3(USH2A):c.7206G>A (p.Leu2402=) rs201731826
NM_206933.3(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966
NM_206933.3(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7527G>T (p.Arg2509=) rs575939496
NM_206933.3(USH2A):c.7540A>C (p.Asn2514His) rs777618162
NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.3(USH2A):c.7573C>A (p.Pro2525Thr) rs762553660
NM_206933.3(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637
NM_206933.3(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.3(USH2A):c.8016G>A (p.Leu2672=) rs368327746
NM_206933.3(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.3(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.3(USH2A):c.8393G>C (p.Gly2798Ala) rs886044303
NM_206933.3(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.3(USH2A):c.8552A>C (p.Asn2851Thr) rs577389392
NM_206933.3(USH2A):c.8710G>A (p.Val2904Ile) rs142649882
NM_206933.3(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292
NM_206933.3(USH2A):c.8778G>A (p.Glu2926=) rs374146074
NM_206933.3(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.3(USH2A):c.8815A>G (p.Thr2939Ala) rs1314306343
NM_206933.3(USH2A):c.8845+4A>G rs1057519222
NM_206933.3(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.3(USH2A):c.8856C>T (p.Asp2952=) rs149306655
NM_206933.3(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586
NM_206933.3(USH2A):c.9008T>C (p.Val3003Ala) rs138574386
NM_206933.3(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671
NM_206933.3(USH2A):c.9047G>A (p.Cys3016Tyr) rs759365458
NM_206933.3(USH2A):c.9258G>T (p.Gln3086His) rs1380261595
NM_206933.3(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.3(USH2A):c.9286G>A (p.Val3096Met) rs147267500
NM_206933.3(USH2A):c.9291A>C (p.Lys3097Asn) rs143872133
NM_206933.3(USH2A):c.9356G>A (p.Arg3119His) rs199885325
NM_206933.3(USH2A):c.9433C>T (p.Leu3145Phe)
NM_206933.3(USH2A):c.9604C>G (p.Pro3202Ala) rs113786363
NM_206933.3(USH2A):c.9614G>A (p.Arg3205His) rs200726531
NM_206933.3(USH2A):c.9820T>A (p.Ser3274Thr) rs1236116000
NM_206933.3(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.3(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693
NM_206933.3(USH2A):c.9958+6G>A rs1553263549
NM_206933.3(USH2A):c.9958+8G>T rs370383574
NM_206933.3(USH2A):c.9993G>A (p.Met3331Ile) rs1255334312
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10040A>C (p.His3347Pro)
NM_206933.4(USH2A):c.10040A>G (p.His3347Arg)
NM_206933.4(USH2A):c.10060G>C (p.Val3354Leu)
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu)
NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala)
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr)
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly)
NM_206933.4(USH2A):c.10165A>G (p.Thr3389Ala)
NM_206933.4(USH2A):c.10182+5T>C
NM_206933.4(USH2A):c.10182G>A (p.Lys3394=) rs751903445
NM_206933.4(USH2A):c.10189A>G (p.Lys3397Glu)
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln)
NM_206933.4(USH2A):c.10208G>A (p.Cys3403Tyr)
NM_206933.4(USH2A):c.1025T>C (p.Leu342Pro)
NM_206933.4(USH2A):c.10284A>G (p.Ile3428Met) rs1571686105
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) rs375485721
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)
NM_206933.4(USH2A):c.1039G>C (p.Asp347His)
NM_206933.4(USH2A):c.10417G>C (p.Glu3473Gln)
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)
NM_206933.4(USH2A):c.10424G>A (p.Arg3475Lys)
NM_206933.4(USH2A):c.10438A>C (p.Asn3480His)
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln)
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.4(USH2A):c.10478G>T (p.Arg3493Ile)
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966
NM_206933.4(USH2A):c.10534A>C (p.Asn3512His)
NM_206933.4(USH2A):c.10583A>G (p.Asn3528Ser)
NM_206933.4(USH2A):c.10585+4T>G
NM_206933.4(USH2A):c.1060T>A (p.Trp354Arg)
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp)
NM_206933.4(USH2A):c.10663G>A (p.Glu3555Lys)
NM_206933.4(USH2A):c.10720_10721delinsTT (p.Gly3574Phe)
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=)
NM_206933.4(USH2A):c.10763G>C (p.Gly3588Ala)
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)
NM_206933.4(USH2A):c.10849A>G (p.Asn3617Asp)
NM_206933.4(USH2A):c.10866G>C (p.Glu3622Asp)
NM_206933.4(USH2A):c.10867T>C (p.Tyr3623His)
NM_206933.4(USH2A):c.10882G>C (p.Val3628Leu)
NM_206933.4(USH2A):c.10940-5T>G
NM_206933.4(USH2A):c.10969A>G (p.Thr3657Ala)
NM_206933.4(USH2A):c.11007C>T (p.Ser3669=)
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu)
NM_206933.4(USH2A):c.11062C>T (p.Pro3688Ser)
NM_206933.4(USH2A):c.11095G>C (p.Glu3699Gln)
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn) rs111033515
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys)
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.4(USH2A):c.1120G>A (p.Asp374Asn)
NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile)
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272
NM_206933.4(USH2A):c.11228G>A (p.Ser3743Asn)
NM_206933.4(USH2A):c.11244G>T (p.Lys3748Asn)
NM_206933.4(USH2A):c.11261G>A (p.Gly3754Glu)
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
NM_206933.4(USH2A):c.11327A>G (p.Tyr3776Cys)
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371
NM_206933.4(USH2A):c.11380A>G (p.Ile3794Val)
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
NM_206933.4(USH2A):c.11383C>T (p.Pro3795Ser)
NM_206933.4(USH2A):c.11389+2dup
NM_206933.4(USH2A):c.11389G>A (p.Gly3797Arg)
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser)
NM_206933.4(USH2A):c.11444G>C (p.Ser3815Thr)
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu) rs35309576
NM_206933.4(USH2A):c.11659T>G (p.Trp3887Gly)
NM_206933.4(USH2A):c.11665C>G (p.Pro3889Ala)
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.1169T>G (p.Phe390Cys)
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202
NM_206933.4(USH2A):c.11764G>A (p.Ala3922Thr)
NM_206933.4(USH2A):c.11784A>T (p.Glu3928Asp)
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950
NM_206933.4(USH2A):c.11821C>G (p.Arg3941Gly)
NM_206933.4(USH2A):c.11821C>T (p.Arg3941Trp)
NM_206933.4(USH2A):c.11842A>G (p.Lys3948Glu)
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr)
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.1193G>T (p.Arg398Met)
NM_206933.4(USH2A):c.12040C>T (p.Pro4014Ser)
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg)
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
NM_206933.4(USH2A):c.12265G>A (p.Glu4089Lys)
NM_206933.4(USH2A):c.12269C>G (p.Pro4090Arg)
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170
NM_206933.4(USH2A):c.12283G>A (p.Gly4095Ser)
NM_206933.4(USH2A):c.12328T>A (p.Tyr4110Asn)
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys)
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)
NM_206933.4(USH2A):c.12392C>T (p.Thr4131Ile)
NM_206933.4(USH2A):c.12395T>C (p.Leu4132Pro)
NM_206933.4(USH2A):c.1241A>G (p.Tyr414Cys) rs1571702162
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr)
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)
NM_206933.4(USH2A):c.12499A>G (p.Lys4167Glu)
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12578G>C (p.Arg4193Thr)
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys)
NM_206933.4(USH2A):c.1258G>A (p.Gly420Ser)
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala)
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
NM_206933.4(USH2A):c.12794G>T (p.Gly4265Val)
NM_206933.4(USH2A):c.127G>A (p.Val43Met)
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.4(USH2A):c.12828G>A (p.Met4276Ile)
NM_206933.4(USH2A):c.12848T>G (p.Ile4283Ser)
NM_206933.4(USH2A):c.12869A>T (p.Gln4290Leu)
NM_206933.4(USH2A):c.12910G>A (p.Glu4304Lys)
NM_206933.4(USH2A):c.12958G>A (p.Asp4320Asn)
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
NM_206933.4(USH2A):c.12974C>T (p.Pro4325Leu)
NM_206933.4(USH2A):c.1297C>T (p.Pro433Ser)
NM_206933.4(USH2A):c.12986A>G (p.Tyr4329Cys)
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)
NM_206933.4(USH2A):c.13079G>A (p.Ser4360Asn)
NM_206933.4(USH2A):c.13084C>T (p.Pro4362Ser)
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) rs727505097
NM_206933.4(USH2A):c.1312T>A (p.Cys438Ser)
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
NM_206933.4(USH2A):c.13148A>C (p.Asn4383Thr)
NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala)
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys)
NM_206933.4(USH2A):c.13221G>A (p.Leu4407=)
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe)
NM_206933.4(USH2A):c.13240T>C (p.Tyr4414His)
NM_206933.4(USH2A):c.13351A>G (p.Thr4451Ala)
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg)
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.13407C>A (p.Asn4469Lys)
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
NM_206933.4(USH2A):c.13424G>T (p.Arg4475Ile)
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn)
NM_206933.4(USH2A):c.13448G>A (p.Gly4483Glu)
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys)
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
NM_206933.4(USH2A):c.13534A>G (p.Ser4512Gly)
NM_206933.4(USH2A):c.1355T>A (p.Val452Asp)
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg)
NM_206933.4(USH2A):c.13592C>A (p.Ala4531Glu)
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)
NM_206933.4(USH2A):c.13700T>G (p.Leu4567Arg)
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.13732A>C (p.Lys4578Gln)
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser)
NM_206933.4(USH2A):c.13811+3A>G
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys)
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
NM_206933.4(USH2A):c.13870T>G (p.Phe4624Val)
NM_206933.4(USH2A):c.1387_1416del (p.Tyr463_Asn472del)
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys)
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)
NM_206933.4(USH2A):c.1394C>T (p.Pro465Leu)
NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn)
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)
NM_206933.4(USH2A):c.14053A>G (p.Asn4685Asp)
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro)
NM_206933.4(USH2A):c.1410C>A (p.Phe470Leu)
NM_206933.4(USH2A):c.14140G>T (p.Ala4714Ser)
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
NM_206933.4(USH2A):c.14203C>T (p.Pro4735Ser)
NM_206933.4(USH2A):c.14222C>T (p.Pro4741Leu)
NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg)
NM_206933.4(USH2A):c.14272C>A (p.Pro4758Thr)
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)
NM_206933.4(USH2A):c.14302T>C (p.Tyr4768His)
NM_206933.4(USH2A):c.14303A>G (p.Tyr4768Cys)
NM_206933.4(USH2A):c.14324C>A (p.Ala4775Asp)
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys)
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612
NM_206933.4(USH2A):c.14413G>T (p.Val4805Leu)
NM_206933.4(USH2A):c.14422T>G (p.Cys4808Gly)
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)
NM_206933.4(USH2A):c.14493A>T (p.Gly4831=)
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys)
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met) rs200570742
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys)
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr)
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr)
NM_206933.4(USH2A):c.1472G>A (p.Gly491Glu)
NM_206933.4(USH2A):c.14750G>A (p.Ser4917Asn)
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys)
NM_206933.4(USH2A):c.14791+4A>G
NM_206933.4(USH2A):c.14803_14804insCCATTTTCGGTGGACAGTACCACCTCA (p.Arg4935_Ala4936insProIlePheGlyGlyGlnTyrHisLeu)
NM_206933.4(USH2A):c.14807C>A (p.Ala4936Asp)
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992
NM_206933.4(USH2A):c.14828A>G (p.Asn4943Ser)
NM_206933.4(USH2A):c.14865C>G (p.Phe4955Leu)
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp)
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995
NM_206933.4(USH2A):c.14939C>T (p.Thr4980Ile)
NM_206933.4(USH2A):c.14948T>A (p.Ile4983Lys)
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)
NM_206933.4(USH2A):c.14963A>G (p.Asp4988Gly)
NM_206933.4(USH2A):c.14996C>T (p.Thr4999Ile)
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
NM_206933.4(USH2A):c.1504C>G (p.Leu502Val)
NM_206933.4(USH2A):c.15063_15080del (p.Thr5022_Lys5027del)
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu)
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=)
NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu)
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr)
NM_206933.4(USH2A):c.15212C>T (p.Pro5071Leu)
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu)
NM_206933.4(USH2A):c.15249G>C (p.Gln5083His)
NM_206933.4(USH2A):c.15250A>G (p.Lys5084Glu)
NM_206933.4(USH2A):c.15259T>A (p.Ser5087Thr)
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) rs767209934
NM_206933.4(USH2A):c.15327T>A (p.Ser5109=)
NM_206933.4(USH2A):c.15336T>A (p.Pro5112=)
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452
NM_206933.4(USH2A):c.15376A>C (p.Ile5126Leu)
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)
NM_206933.4(USH2A):c.15506A>G (p.His5169Arg)
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621
NM_206933.4(USH2A):c.15582C>T (p.Arg5194=)
NM_206933.4(USH2A):c.15601C>A (p.His5201Asn)
NM_206933.4(USH2A):c.1579T>C (p.Cys527Arg)
NM_206933.4(USH2A):c.1579T>G (p.Cys527Gly)
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
NM_206933.4(USH2A):c.1589C>G (p.Thr530Arg)
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161
NM_206933.4(USH2A):c.1652G>A (p.Arg551His)
NM_206933.4(USH2A):c.1666T>C (p.Tyr556His)
NM_206933.4(USH2A):c.1679C>A (p.Pro560His)
NM_206933.4(USH2A):c.1684C>T (p.Arg562Cys)
NM_206933.4(USH2A):c.1757ACA[1] (p.Asn587del)
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser) rs200496467
NM_206933.4(USH2A):c.1802GAG[2] (p.Gly603del)
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro)
NM_206933.4(USH2A):c.1891G>C (p.Asp631His)
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn)
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu)
NM_206933.4(USH2A):c.2002G>A (p.Val668Met)
NM_206933.4(USH2A):c.2046T>G (p.Asn682Lys)
NM_206933.4(USH2A):c.2062C>T (p.Pro688Ser) rs1571622927
NM_206933.4(USH2A):c.2077C>A (p.Pro693Thr)
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser)
NM_206933.4(USH2A):c.2168-7T>G
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr)
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln)
NM_206933.4(USH2A):c.221A>C (p.Glu74Ala)
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu)
NM_206933.4(USH2A):c.2237C>T (p.Pro746Leu)
NM_206933.4(USH2A):c.2293C>G (p.Gln765Glu)
NM_206933.4(USH2A):c.2305A>G (p.Lys769Glu)
NM_206933.4(USH2A):c.2320G>A (p.Gly774Arg)
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)
NM_206933.4(USH2A):c.2372A>G (p.Asn791Ser)
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr)
NM_206933.4(USH2A):c.2514A>G (p.Gln838=)
NM_206933.4(USH2A):c.251G>A (p.Cys84Tyr)
NM_206933.4(USH2A):c.2548G>C (p.Asp850His)
NM_206933.4(USH2A):c.2561C>A (p.Thr854Lys)
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)
NM_206933.4(USH2A):c.2680T>G (p.Phe894Val)
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr)
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile)
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) rs772211390
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg)
NM_206933.4(USH2A):c.2825C>T (p.Pro942Leu)
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg)
NM_206933.4(USH2A):c.2867C>T (p.Thr956Ile)
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
NM_206933.4(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.4(USH2A):c.2919A>G (p.Gln973=)
NM_206933.4(USH2A):c.295G>A (p.Ala99Thr)
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.4(USH2A):c.3052A>C (p.Thr1018Pro)
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr)
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.4(USH2A):c.3158-8_3158-3del
NM_206933.4(USH2A):c.3212A>G (p.Asn1071Ser)
NM_206933.4(USH2A):c.3220T>C (p.Trp1074Arg)
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
NM_206933.4(USH2A):c.3316+5G>C
NM_206933.4(USH2A):c.3344T>C (p.Leu1115Pro)
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
NM_206933.4(USH2A):c.3403A>G (p.Arg1135Gly)
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685
NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly)
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val)
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734
NM_206933.4(USH2A):c.3529G>T (p.Gly1177Cys)
NM_206933.4(USH2A):c.3536T>C (p.Ile1179Thr)
NM_206933.4(USH2A):c.353C>T (p.Pro118Leu)
NM_206933.4(USH2A):c.3542A>C (p.Lys1181Thr)
NM_206933.4(USH2A):c.3575G>A (p.Gly1192Asp)
NM_206933.4(USH2A):c.3583T>C (p.Cys1195Arg)
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.3679G>C (p.Gly1227Arg)
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr)
NM_206933.4(USH2A):c.3746C>A (p.Pro1249His)
NM_206933.4(USH2A):c.3755A>G (p.Gln1252Arg)
NM_206933.4(USH2A):c.3764G>T (p.Ser1255Ile)
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp)
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
NM_206933.4(USH2A):c.3955C>A (p.Pro1319Thr)
NM_206933.4(USH2A):c.3977T>C (p.Ile1326Thr)
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile)
NM_206933.4(USH2A):c.3994T>C (p.Tyr1332His)
NM_206933.4(USH2A):c.3998C>G (p.Thr1333Ser)
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu)
NM_206933.4(USH2A):c.406T>A (p.Phe136Ile)
NM_206933.4(USH2A):c.4096A>T (p.Ile1366Phe)
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4107_4124del (p.Val1370_Ser1375del)
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
NM_206933.4(USH2A):c.4172G>A (p.Arg1391Lys)
NM_206933.4(USH2A):c.4231A>T (p.Ile1411Phe)
NM_206933.4(USH2A):c.4243T>C (p.Phe1415Leu)
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys) rs876657627
NM_206933.4(USH2A):c.4403C>G (p.Ala1468Gly)
NM_206933.4(USH2A):c.4469C>A (p.Pro1490His)
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
NM_206933.4(USH2A):c.452C>G (p.Ala151Gly)
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)
NM_206933.4(USH2A):c.458G>T (p.Trp153Leu)
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val)
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg)
NM_206933.4(USH2A):c.4823A>C (p.His1608Pro)
NM_206933.4(USH2A):c.4823A>G (p.His1608Arg)
NM_206933.4(USH2A):c.4842G>C (p.Arg1614Ser)
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val)
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val)
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr)
NM_206933.4(USH2A):c.4886G>A (p.Gly1629Asp)
NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val)
NM_206933.4(USH2A):c.4987+5G>C
NM_206933.4(USH2A):c.4988-5T>G
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His)
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser)
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp)
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu)
NM_206933.4(USH2A):c.5120A>G (p.Glu1707Gly)
NM_206933.4(USH2A):c.5123G>C (p.Gly1708Ala)
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala)
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val)
NM_206933.4(USH2A):c.5192T>C (p.Met1731Thr)
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824
NM_206933.4(USH2A):c.5298+5G>A
NM_206933.4(USH2A):c.5299-10T>C
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln)
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu)
NM_206933.4(USH2A):c.5446G>T (p.Val1816Leu)
NM_206933.4(USH2A):c.5480G>C (p.Gly1827Ala)
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5549A>G (p.Tyr1850Cys)
NM_206933.4(USH2A):c.5573-19A>G
NM_206933.4(USH2A):c.5579G>A (p.Gly1860Asp)
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.5596G>A (p.Val1866Ile)
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792
NM_206933.4(USH2A):c.5645G>A (p.Gly1882Asp)
NM_206933.4(USH2A):c.565C>T (p.Arg189Cys)
NM_206933.4(USH2A):c.566G>A (p.Arg189His)
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu)
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu)
NM_206933.4(USH2A):c.5739G>T (p.Glu1913Asp)
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834
NM_206933.4(USH2A):c.5776+5T>A
NM_206933.4(USH2A):c.5776+9G>T
NM_206933.4(USH2A):c.577G>T (p.Gly193Cys)
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys)
NM_206933.4(USH2A):c.5856A>G (p.Ala1952=)
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.5883A>C (p.Ser1961=)
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys)
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly)
NM_206933.4(USH2A):c.5945G>A (p.Gly1982Asp)
NM_206933.4(USH2A):c.5953G>C (p.Glu1985Gln)
NM_206933.4(USH2A):c.5977A>T (p.Ser1993Cys)
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)
NM_206933.4(USH2A):c.598G>A (p.Val200Ile)
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
NM_206933.4(USH2A):c.6047C>T (p.Thr2016Ile)
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=)
NM_206933.4(USH2A):c.6050-3T>C
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr)
NM_206933.4(USH2A):c.60G>T (p.Leu20Phe)
NM_206933.4(USH2A):c.6100G>T (p.Ala2034Ser)
NM_206933.4(USH2A):c.6119G>C (p.Cys2040Ser)
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
NM_206933.4(USH2A):c.6197C>T (p.Ser2066Phe)
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys)
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.4(USH2A):c.6293A>G (p.Tyr2098Cys)
NM_206933.4(USH2A):c.6341C>T (p.Thr2114Ile)
NM_206933.4(USH2A):c.6344C>T (p.Pro2115Leu)
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.4(USH2A):c.6370_6381del (p.Thr2124_Gly2127del)
NM_206933.4(USH2A):c.6371C>A (p.Thr2124Lys)
NM_206933.4(USH2A):c.6388A>T (p.Asn2130Tyr)
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)
NM_206933.4(USH2A):c.6436G>A (p.Val2146Met)
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe)
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
NM_206933.4(USH2A):c.6535T>C (p.Tyr2179His)
NM_206933.4(USH2A):c.6536A>G (p.Tyr2179Cys)
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.6557A>C (p.Asp2186Ala)
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys)
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser)
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr)
NM_206933.4(USH2A):c.6701C>A (p.Ala2234Asp)
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu)
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr)
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr)
NM_206933.4(USH2A):c.6772A>G (p.Asn2258Asp)
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027
NM_206933.4(USH2A):c.6805+16T>C
NM_206933.4(USH2A):c.6805G>A (p.Gly2269Ser)
NM_206933.4(USH2A):c.6806-3C>T
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser)
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
NM_206933.4(USH2A):c.6963A>C (p.Glu2321Asp)
NM_206933.4(USH2A):c.6968G>C (p.Arg2323Pro)
NM_206933.4(USH2A):c.6994A>G (p.Thr2332Ala)
NM_206933.4(USH2A):c.7019A>C (p.Gln2340Pro)
NM_206933.4(USH2A):c.7019A>T (p.Gln2340Leu)
NM_206933.4(USH2A):c.7025C>T (p.Ser2342Phe)
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp)
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721
NM_206933.4(USH2A):c.7138C>T (p.Leu2380Phe)
NM_206933.4(USH2A):c.7157T>C (p.Val2386Ala)
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)
NM_206933.4(USH2A):c.725T>C (p.Leu242Pro)
NM_206933.4(USH2A):c.7280C>A (p.Thr2427Lys)
NM_206933.4(USH2A):c.7297G>A (p.Gly2433Arg) rs1281049882
NM_206933.4(USH2A):c.7301-6C>T rs375499259
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met)
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe)
NM_206933.4(USH2A):c.7412T>G (p.Leu2471Arg)
NM_206933.4(USH2A):c.7452-3C>T
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)
NM_206933.4(USH2A):c.7537T>G (p.Ser2513Ala)
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg)
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe)
NM_206933.4(USH2A):c.7774C>G (p.Pro2592Ala)
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
NM_206933.4(USH2A):c.7804G>C (p.Ala2602Pro)
NM_206933.4(USH2A):c.785-5T>A
NM_206933.4(USH2A):c.7880T>A (p.Ile2627Asn)
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala)
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
NM_206933.4(USH2A):c.7949C>T (p.Pro2650Leu)
NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser)
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly)
NM_206933.4(USH2A):c.800T>C (p.Val267Ala)
NM_206933.4(USH2A):c.8077T>C (p.Trp2693Arg)
NM_206933.4(USH2A):c.8084A>G (p.Lys2695Arg)
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp)
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
NM_206933.4(USH2A):c.8102T>C (p.Leu2701Pro)
NM_206933.4(USH2A):c.8116C>T (p.His2706Tyr)
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg)
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu)
NM_206933.4(USH2A):c.8188C>A (p.Pro2730Thr)
NM_206933.4(USH2A):c.8224-6T>G
NM_206933.4(USH2A):c.8250G>C (p.Gln2750His)
NM_206933.4(USH2A):c.8282T>G (p.Met2761Arg)
NM_206933.4(USH2A):c.8298C>G (p.Ile2766Met)
NM_206933.4(USH2A):c.82A>G (p.Ile28Val)
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452
NM_206933.4(USH2A):c.8324T>C (p.Val2775Ala)
NM_206933.4(USH2A):c.835G>A (p.Ala279Thr)
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu)
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037
NM_206933.4(USH2A):c.8443A>G (p.Thr2815Ala)
NM_206933.4(USH2A):c.8456C>A (p.Thr2819Asn)
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
NM_206933.4(USH2A):c.8537A>G (p.Lys2846Arg)
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.8559-7G>A rs199618999
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
NM_206933.4(USH2A):c.8631C>G (p.His2877Gln)
NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala)
NM_206933.4(USH2A):c.8671G>A (p.Gly2891Ser)
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val)
NM_206933.4(USH2A):c.8682-5T>C
NM_206933.4(USH2A):c.8682G>A (p.Arg2894=)
NM_206933.4(USH2A):c.8682G>T (p.Arg2894Ser)
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile)
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.8720G>A (p.Ser2907Asn)
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn)
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
NM_206933.4(USH2A):c.8783G>T (p.Gly2928Val)
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu)
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn)
NM_206933.4(USH2A):c.8868A>G (p.Glu2956=)
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly)
NM_206933.4(USH2A):c.8923A>G (p.Ile2975Val)
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)
NM_206933.4(USH2A):c.8985C>G (p.Ile2995Met)
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535
NM_206933.4(USH2A):c.8996T>C (p.Val2999Ala)
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu)
NM_206933.4(USH2A):c.9046T>C (p.Cys3016Arg)
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456
NM_206933.4(USH2A):c.9093C>G (p.Ile3031Met)
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala)
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys)
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.4(USH2A):c.9235C>G (p.Pro3079Ala)
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg)
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618
NM_206933.4(USH2A):c.9338T>A (p.Ile3113Lys)
NM_206933.4(USH2A):c.9372-4G>A rs199953845
NM_206933.4(USH2A):c.9383T>A (p.Ile3128Asn)
NM_206933.4(USH2A):c.9388T>C (p.Trp3130Arg)
NM_206933.4(USH2A):c.9394T>C (p.Ser3132Pro)
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg)
NM_206933.4(USH2A):c.9460G>A (p.Ala3154Thr)
NM_206933.4(USH2A):c.9461C>T (p.Ala3154Val)
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser)
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)
NM_206933.4(USH2A):c.9593A>C (p.Tyr3198Ser)
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met)
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del)
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln)
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp)
NM_206933.4(USH2A):c.9781G>C (p.Val3261Leu)
NM_206933.4(USH2A):c.9800G>T (p.Cys3267Phe)
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)
NM_206933.4(USH2A):c.9808A>G (p.Arg3270Gly)
NM_206933.4(USH2A):c.9834C>A (p.Asn3278Lys)
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)
NM_206933.4(USH2A):c.9875A>G (p.Gln3292Arg)
NM_206933.4(USH2A):c.9884G>A (p.Cys3295Tyr)
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
NM_206933.4(USH2A):c.9886G>A (p.Gly3296Ser)
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136
NM_206933.4(USH2A):c.9920G>T (p.Cys3307Phe)
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
NM_206933.4(USH2A):c.9961A>G (p.Met3321Val)
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu)
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)

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