ClinVar Miner

List of variants in gene USH2A studied for Usher syndrome, type 2A

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Gene type:
ClinVar version:
Total variants: 608
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HGVS dbSNP
NC_000001.10:g.216144119_216591855del447737
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NC_000001.11:g.215741537del
NM_007123.5(USH2A):c.*1024T>C rs439940
NM_007123.5(USH2A):c.*1077T>C rs886045945
NM_007123.5(USH2A):c.*1128G>T rs401269
NM_007123.5(USH2A):c.*131T>G rs55761862
NM_007123.5(USH2A):c.*147T>C rs771693146
NM_007123.5(USH2A):c.*267T>C rs570544314
NM_007123.5(USH2A):c.*316A>G rs886045949
NM_007123.5(USH2A):c.*397A>G rs772732997
NM_007123.5(USH2A):c.*547T>C rs566131886
NM_007123.5(USH2A):c.*548C>T rs769348449
NM_007123.5(USH2A):c.*575C>A rs886045948
NM_007123.5(USH2A):c.*596G>A rs886045947
NM_007123.5(USH2A):c.*685C>A rs59704861
NM_007123.5(USH2A):c.*787C>G rs41277222
NM_007123.5(USH2A):c.*799C>T rs192047831
NM_007123.5(USH2A):c.*837A>G rs779885066
NM_007123.5(USH2A):c.-159G>C rs886045955
NM_007123.5(USH2A):c.-181C>T rs866904288
NM_007123.5(USH2A):c.-289C>A rs886045956
NM_007123.5(USH2A):c.-289C>T rs886045956
NM_007123.5(USH2A):c.-355C>G rs868097748
NM_007123.5(USH2A):c.126C>T (p.Asn42=) rs774473277
NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_007123.5(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_007123.5(USH2A):c.1346G>A (p.Arg449His) rs766715882
NM_007123.5(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_007123.5(USH2A):c.1539C>T (p.Thr513=) rs199939890
NM_007123.5(USH2A):c.1547G>T (p.Gly516Val) rs1415484067
NM_007123.5(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_007123.5(USH2A):c.1900G>T (p.Ala634Ser) rs759589036
NM_007123.5(USH2A):c.1903A>G (p.Ile635Val) rs201808654
NM_007123.5(USH2A):c.1935A>T (p.Thr645=) rs146670690
NM_007123.5(USH2A):c.2279A>G (p.Asn760Ser) rs776095235
NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_007123.5(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_007123.5(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_007123.5(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_007123.5(USH2A):c.3157+12C>T rs199853422
NM_007123.5(USH2A):c.3177G>A (p.Pro1059=) rs767648070
NM_007123.5(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677
NM_007123.5(USH2A):c.3342C>T (p.Asp1114=) rs755765979
NM_007123.5(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_007123.5(USH2A):c.3489C>T (p.Asp1163=) rs139156019
NM_007123.5(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_007123.5(USH2A):c.3780T>C (p.His1260=) rs759937489
NM_007123.5(USH2A):c.3812-3_3837dup rs780071028
NM_007123.5(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_007123.5(USH2A):c.3969G>A (p.Met1323Ile) rs886045953
NM_007123.5(USH2A):c.402del (p.Cys135fs) rs1255535680
NM_007123.5(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_007123.5(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_007123.5(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950
NM_007123.5(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_007123.5(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_007123.5(USH2A):c.485+3A>T rs1553258031
NM_007123.5(USH2A):c.651+15A>G rs765252898
NM_007123.5(USH2A):c.779T>G (p.Leu260Ter) rs121912598
NM_007123.5(USH2A):c.849-4A>G rs765189933
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_007123.5(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.3368A>G rs775177930
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.10059G>A (p.Pro3353=) rs147842359
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.1011T>C (p.Pro337=) rs146950070
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.3(USH2A):c.10341C>T (p.Ala3447=) rs372015149
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.10374G>A (p.Thr3458=) rs137963595
NM_206933.3(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.3(USH2A):c.1047T>C (p.Asp349=) rs775053681
NM_206933.3(USH2A):c.10740+7G>A rs201206110
NM_206933.3(USH2A):c.10741-8G>A rs369968349
NM_206933.3(USH2A):c.10854C>T (p.Gly3618=) rs1348201363
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.10950A>G (p.Pro3650=) rs372690499
NM_206933.3(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759
NM_206933.3(USH2A):c.11103T>C (p.Tyr3701=) rs143453173
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.11174del (p.Phe3725fs) rs1571657875
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132
NM_206933.3(USH2A):c.11389+1G>A rs368770647
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139
NM_206933.3(USH2A):c.11466C>T (p.Ser3822=) rs144655434
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11549-5del rs34565443
NM_206933.3(USH2A):c.1158C>A (p.Ile386=) rs1037072307
NM_206933.3(USH2A):c.11714G>A (p.Arg3905His) rs201709470
NM_206933.3(USH2A):c.11859T>C (p.Ser3953=) rs141941454
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.12369T>C (p.Asp4123=) rs779194517
NM_206933.3(USH2A):c.12399G>A (p.Glu4133=) rs150406015
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12582C>T (p.Cys4194=) rs1571949553
NM_206933.3(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.3(USH2A):c.12876T>C (p.Asn4292=) rs762246558
NM_206933.3(USH2A):c.12918C>T (p.Leu4306=) rs192709780
NM_206933.3(USH2A):c.13099G>A (p.Val4367Ile) rs146156360
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.1316T>C (p.Leu439Pro) rs1558038097
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.13812-5T>C rs371583628
NM_206933.3(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500
NM_206933.3(USH2A):c.14073C>T (p.Asn4691=) rs370364142
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.1438G>A (p.Val480Ile) rs138694314
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14625C>T (p.Ala4875=) rs773859845
NM_206933.3(USH2A):c.14838G>T (p.Val4946=) rs949583594
NM_206933.3(USH2A):c.14892C>T (p.Tyr4964=) rs149877542
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
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.15265T>C (p.Leu5089=) rs746439490
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.15432C>T (p.Ser5144=) rs145362017
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.3(USH2A):c.1678C>G (p.Pro560Ala) rs147509797
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.3(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.3(USH2A):c.1761C>T (p.Asn587=) rs1571668714
NM_206933.3(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.1A>G (p.Met1Val) rs924627806
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.2365G>A (p.Val789Ile) rs199571930
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.3(USH2A):c.2459A>G (p.Asn820Ser) rs34447581
NM_206933.3(USH2A):c.2460T>C (p.Asn820=) rs781373128
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+1G>A rs759433119
NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.3(USH2A):c.3158-2A>G rs878853404
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.3327C>T (p.Tyr1109=) rs758705873
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3666G>A (p.Ala1222=) rs764479854
NM_206933.3(USH2A):c.3678G>A (p.Gly1226=) rs376090043
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292
NM_206933.3(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.432G>A (p.Leu144=) rs760787084
NM_206933.3(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.3(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.4698G>A (p.Gln1566=) rs143218330
NM_206933.3(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499
NM_206933.3(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785
NM_206933.3(USH2A):c.5265C>T (p.Phe1755=) rs147371835
NM_206933.3(USH2A):c.5278del (p.Asp1760fs) rs754374132
NM_206933.3(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105
NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414
NM_206933.3(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.3(USH2A):c.5577C>T (p.Phe1859=) rs764839361
NM_206933.3(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.5802G>A (p.Ser1934=) rs149776188
NM_206933.3(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485
NM_206933.3(USH2A):c.586C>T (p.Pro196Ser) rs756041909
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6096A>G (p.Leu2032=) rs376669318
NM_206933.3(USH2A):c.6317= (p.Thr2106=) rs6657250
NM_206933.3(USH2A):c.6372A>T (p.Thr2124=) rs548332655
NM_206933.3(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.647T>G (p.Val216Gly) rs1571801514
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.3(USH2A):c.6741C>T (p.Pro2247=) rs766287712
NM_206933.3(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6930G>A (p.Thr2310=) rs146406377
NM_206933.3(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141
NM_206933.3(USH2A):c.705A>G (p.Thr235=) rs767897482
NM_206933.3(USH2A):c.7167C>T (p.Ser2389=) rs200243588
NM_206933.3(USH2A):c.7227T>C (p.Thr2409=) rs141917231
NM_206933.3(USH2A):c.723T>C (p.Thr241=) rs571744403
NM_206933.3(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966
NM_206933.3(USH2A):c.732T>C (p.Gly244=) rs576466805
NM_206933.3(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301
NM_206933.3(USH2A):c.7416G>A (p.Gln2472=) rs145783712
NM_206933.3(USH2A):c.7428C>T (p.Gly2476=) rs150372183
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7476G>A (p.Ser2492=) rs777803742
NM_206933.3(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
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.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637
NM_206933.3(USH2A):c.7776A>G (p.Pro2592=) rs753565758
NM_206933.3(USH2A):c.7839G>T (p.Glu2613Asp) rs568902534
NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.3(USH2A):c.8064T>C (p.Ser2688=) rs1456443971
NM_206933.3(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.3(USH2A):c.8266del (p.Ser2756fs) rs1558141330
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.3(USH2A):c.8760G>A (p.Thr2920=) rs200525258
NM_206933.3(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.3(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) rs786205116
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.9201T>C (p.Asn3067=) rs764236480
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9372-1G>A rs1558111861
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.3(USH2A):c.9614G>A (p.Arg3205His) rs200726531
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.3(USH2A):c.9827C>A (p.Ser3276Ter) rs863224941
NM_206933.3(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.3(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813
NM_206933.3(USH2A):c.9906C>T (p.Asn3302=) rs757439664
NM_206933.3(USH2A):c.99_100insT (p.Arg34fs) rs141672841
NM_206933.4(USH2A):c.-204-15G>A
NM_206933.4(USH2A):c.-305C>G
NM_206933.4(USH2A):c.-4A>G
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr)
NM_206933.4(USH2A):c.10182+5T>C
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr)
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu)
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp)
NM_206933.4(USH2A):c.10666G>A (p.Gly3556Arg)
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met)
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=)
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val)
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs)
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=)
NM_206933.4(USH2A):c.12067-1G>A rs397517977
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu)
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
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.12398A>T (p.Glu4133Val)
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
NM_206933.4(USH2A):c.127G>A (p.Val43Met)
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) rs137868043
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys)
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn)
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923
NM_206933.4(USH2A):c.1327A>C (p.Asn443His)
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met)
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) rs1571947757
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys)
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083
NM_206933.4(USH2A):c.14512G>A rs533097255
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn)
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly)
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=)
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu)
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=)
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) rs1571701072
NM_206933.4(USH2A):c.15297+1G>C
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala)
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.1972-4C>T
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.4(USH2A):c.2167+11C>T rs139647897
NM_206933.4(USH2A):c.2167+4C>T rs200638562
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
NM_206933.4(USH2A):c.2903G>T (p.Gly968Val)
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3409G>A (p.Val1137Ile)
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.4(USH2A):c.3812-8T>G rs646094
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
NM_206933.4(USH2A):c.3933G>A rs560861284
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.4252-15dup
NM_206933.4(USH2A):c.4328C>T (p.Thr1443Ile)
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
NM_206933.4(USH2A):c.4396+2T>G
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
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.4627+10T>C
NM_206933.4(USH2A):c.4627+1133G>A
NM_206933.4(USH2A):c.4627+28A>G
NM_206933.4(USH2A):c.4627+32G>T
NM_206933.4(USH2A):c.4627+343A>G
NM_206933.4(USH2A):c.4627+36C>T
NM_206933.4(USH2A):c.4627+442C>G
NM_206933.4(USH2A):c.4627+48A>T
NM_206933.4(USH2A):c.4627+510G>A
NM_206933.4(USH2A):c.4627+512G>A
NM_206933.4(USH2A):c.4627+596A>G
NM_206933.4(USH2A):c.4627+641G>A
NM_206933.4(USH2A):c.4627+686T>A
NM_206933.4(USH2A):c.4627+850C>T
NM_206933.4(USH2A):c.4627+974T>C
NM_206933.4(USH2A):c.4627+981T>A
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
NM_206933.4(USH2A):c.4758+3A>G rs117798425
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.486-13G>A rs116367260
NM_206933.4(USH2A):c.486-15C>T rs114194722
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser)
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val)
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu)
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=)
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516
NM_206933.4(USH2A):c.6657+1G>A rs1571876788
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212
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.6800C>T (p.Pro2267Leu) rs397518027
NM_206933.4(USH2A):c.6805+195T>G
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met)
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp)
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
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.7160T>C (p.Met2387Thr) rs115015305
NM_206933.4(USH2A):c.7203G>T rs769558676
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=)
NM_206933.4(USH2A):c.7301-6C>T rs375499259
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe)
NM_206933.4(USH2A):c.7428C>A (p.Gly2476=)
NM_206933.4(USH2A):c.7451+3G>A rs397518030
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=)
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly)
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met)
NM_206933.4(USH2A):c.7965G>A rs571110005
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly)
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu)
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg)
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262
NM_206933.4(USH2A):c.848+5G>C rs74329863
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.8559-7G>A rs199618999
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn)
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr)
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala)
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9371+1G>C rs41308425
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp)
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843
NM_206933.4(USH2A):c.9611A>G rs745539518
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) rs6660707
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp)
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His)

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