ClinVar Miner

List of variants in gene USH2A studied for Retinal dystrophy

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 627
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718 0.17214
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889 0.16907
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923 0.15011
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536 0.10108
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427 0.07727
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843 0.05402
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640 0.00247
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498 0.00214
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu) rs138640647 0.00027
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr) rs200949691 0.00024
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385 0.00020
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp) rs144768593 0.00019
NM_206933.4(USH2A):c.5619C>T (p.Val1873=) rs138416665 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe) rs368058316 0.00018
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys) rs779057575 0.00014
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348 0.00014
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) rs143319658 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) rs141452179 0.00014
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351 0.00013
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.6801G>A (p.Pro2267=) rs375235470 0.00012
NM_206933.4(USH2A):c.9813G>A (p.Met3271Ile) rs137876918 0.00012
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys) rs148049006 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_206933.4(USH2A):c.1674C>T (p.Asp558=) rs778757759 0.00010
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=) rs200525258 0.00010
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=) rs144655434 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698 0.00008
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys) rs371685066 0.00008
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=) rs764839361 0.00007
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) rs140845899 0.00007
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly) rs146014881 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp) rs767137840 0.00006
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val) rs727503732 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) rs754774098 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) rs753594462 0.00005
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp) rs568902534 0.00005
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile) rs142649882 0.00005
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037 0.00004
NM_206933.4(USH2A):c.13939G>C (p.Gly4647Arg) rs144524302 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.14925C>T (p.Ser4975=) rs1158136623 0.00004
NM_206933.4(USH2A):c.1972-1G>A rs372927796 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.723T>C (p.Thr241=) rs571744403 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) rs564240175 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=) rs192709780 0.00003
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) rs141696914 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.15297+1G>C rs767630412 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.1977A>G (p.Gly659=) rs774388489 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val) rs200081251 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=) rs773159617 0.00003
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=) rs571110005 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) rs778272177 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) rs769233119 0.00003
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) rs201961789 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys) rs769560933 0.00002
NM_206933.4(USH2A):c.14190C>T (p.Thr4730=) rs199694401 0.00002
NM_206933.4(USH2A):c.14643C>T (p.Ser4881=) rs764036605 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.1572C>T (p.Ala524=) rs748943923 0.00002
NM_206933.4(USH2A):c.1644+1G>A rs912980910 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_206933.4(USH2A):c.3316+5G>C rs1442104013 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.6729C>T (p.Gly2243=) rs369511538 0.00002
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met) rs776972526 0.00002
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) rs375744536 0.00002
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp) rs1394948601 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu) rs561700482 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu) rs1467856164 0.00002
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met) rs149485593 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464 0.00001
NM_206933.4(USH2A):c.11047+1G>A rs201730567 0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.11530A>G (p.Ile3844Val) rs1267260016 0.00001
NM_206933.4(USH2A):c.11585C>G (p.Thr3862Arg) rs886044126 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) rs188008529 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017 0.00001
NM_206933.4(USH2A):c.12432G>A (p.Ala4144=) rs773192157 0.00001
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) rs147304271 0.00001
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr) rs955434291 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=) rs762159022 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp) rs755480221 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13392G>A (p.Trp4464Ter) rs1219505844 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln) rs527644737 0.00001
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=) rs397517986 0.00001
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136 0.00001
NM_206933.4(USH2A):c.13811+1G>A rs1177257719 0.00001
NM_206933.4(USH2A):c.13833G>A (p.Ala4611=) rs760266483 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 0.00001
NM_206933.4(USH2A):c.14061C>A (p.Val4687=) rs753243273 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.14791+5G>T rs1235430504 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.15092G>A (p.Arg5031Gln) rs755653202 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe) rs542341955 0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs) rs1295968274 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.1758C>T (p.Tyr586=) rs779929656 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) rs781223647 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr) rs780709977 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) rs886039449 0.00001
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr) rs1391032458 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.3317-2A>G rs2034951427 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=) rs560861284 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg) rs769198746 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.5573-834A>G rs1558244152 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485 0.00001
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291 0.00001
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter) rs769609970 0.00001
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) rs774634733 0.00001
NM_206933.4(USH2A):c.6715G>C (p.Asp2239His) rs749853149 0.00001
NM_206933.4(USH2A):c.6806-3C>T rs775703386 0.00001
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly) rs772407116 0.00001
NM_206933.4(USH2A):c.7206G>A (p.Leu2402=) rs201731826 0.00001
NM_206933.4(USH2A):c.7230A>T (p.Val2410=) rs202162396 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978 0.00001
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala) rs762358589 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys) rs770418427 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His) rs1334903455 0.00001
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe) rs1662221668 0.00001
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly) rs766658893 0.00001
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10024G>A (p.Gly3342Arg)
NM_206933.4(USH2A):c.10149C>G (p.Cys3383Trp)
NM_206933.4(USH2A):c.10157A>C (p.Lys3386Thr)
NM_206933.4(USH2A):c.10159A>G (p.Ile3387Val)
NM_206933.4(USH2A):c.10183-2A>G rs1661818720
NM_206933.4(USH2A):c.1021C>T (p.Pro341Ser)
NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly) rs1661811625
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.1038_1091dup (p.Thr363_Gln364insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr) rs2037708032
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter) rs1661687852
NM_206933.4(USH2A):c.10425G>T (p.Arg3475Ser)
NM_206933.4(USH2A):c.10473A>G (p.Arg3491=)
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser) rs771610821
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) rs1241034250
NM_206933.4(USH2A):c.1048G>A (p.Val350Ile)
NM_206933.4(USH2A):c.10498C>T (p.Gln3500Ter)
NM_206933.4(USH2A):c.10513_10514del (p.Pro3505fs)
NM_206933.4(USH2A):c.10532A>G (p.Asp3511Gly)
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.4(USH2A):c.10584T>G (p.Asn3528Lys)
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10627C>T (p.Arg3543Cys)
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.10810G>T (p.Val3604Leu)
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr) rs727504307
NM_206933.4(USH2A):c.10839T>C (p.Pro3613=)
NM_206933.4(USH2A):c.10939+1G>T
NM_206933.4(USH2A):c.10976C>T (p.Thr3659Ile)
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter) rs1661140054
NM_206933.4(USH2A):c.11053T>C (p.Trp3685Arg)
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter) rs143453173
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11189del (p.Glu3730fs) rs1660922779
NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs) rs762070900
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg) rs895291691
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.11423A>G (p.Asn3808Ser)
NM_206933.4(USH2A):c.11468T>C (p.Val3823Ala)
NM_206933.4(USH2A):c.1150T>C (p.Tyr384His)
NM_206933.4(USH2A):c.11548+2T>G rs1371160062
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.11811_11812del (p.Tyr3938fs)
NM_206933.4(USH2A):c.11862G>C (p.Leu3954=) rs1486960561
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.11895del (p.Gln3966fs) rs1659887829
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn) rs866937010
NM_206933.4(USH2A):c.1204AAG[1] (p.Lys403del)
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.4(USH2A):c.120G>A (p.Leu40=)
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12226C>T (p.Gln4076Ter)
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.12252del (p.Leu4085fs) rs1658179729
NM_206933.4(USH2A):c.12270T>C (p.Pro4090=)
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) rs1657997491
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter) rs1657997730
NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn)
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter) rs757525434
NM_206933.4(USH2A):c.12407C>T (p.Thr4136Ile)
NM_206933.4(USH2A):c.12409del (p.Arg4137fs) rs1657992342
NM_206933.4(USH2A):c.12416del (p.Gly4139fs)
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)
NM_206933.4(USH2A):c.12463C>T (p.Pro4155Ser)
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.4(USH2A):c.1267G>T (p.Gly423Ter)
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter) rs1657976232
NM_206933.4(USH2A):c.12711A>G (p.Glu4237=) rs1657976025
NM_206933.4(USH2A):c.12730A>C (p.Asn4244His)
NM_206933.4(USH2A):c.1277dup (p.Asn426fs) rs2037679829
NM_206933.4(USH2A):c.12782C>T (p.Ala4261Val)
NM_206933.4(USH2A):c.12863C>A (p.Pro4288Gln)
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser) rs143898511
NM_206933.4(USH2A):c.12913del (p.Met4305fs) rs1657961646
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser) rs1657960260
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13021T>G (p.Cys4341Gly)
NM_206933.4(USH2A):c.13071A>C (p.Ser4357=) rs568141672
NM_206933.4(USH2A):c.13175G>C (p.Arg4392Thr)
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu) rs2039690182
NM_206933.4(USH2A):c.13204C>T (p.Gln4402Ter)
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.13305del (p.Lys4435fs)
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13385T>G (p.Ile4462Ser)
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser) rs1657932443
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.4(USH2A):c.13492A>G (p.Thr4498Ala)
NM_206933.4(USH2A):c.13513T>C (p.Tyr4505His)
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) rs746442849
NM_206933.4(USH2A):c.13590A>G (p.Ser4530=) rs1343900269
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs) rs1485393201
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=) rs929186272
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.13834dup (p.Cys4612fs)
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.13854A>G (p.Ala4618=)
NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del) rs2037662587
NM_206933.4(USH2A):c.13887G>T (p.Glu4629Asp)
NM_206933.4(USH2A):c.13894C>G (p.Pro4632Ala)
NM_206933.4(USH2A):c.13907C>A (p.Pro4636His)
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.4(USH2A):c.13916A>C (p.His4639Pro)
NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs) rs1419913594
NM_206933.4(USH2A):c.14010C>A (p.Tyr4670Ter)
NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter) rs1657799720
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter) rs1657798642
NM_206933.4(USH2A):c.14103A>G (p.Glu4701=)
NM_206933.4(USH2A):c.14125dup (p.Glu4709fs) rs1657796004
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14142A>T (p.Ala4714=)
NM_206933.4(USH2A):c.14205del (p.Glu4736fs)
NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro) rs1657035975
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter) rs766370703
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.14518C>T (p.Leu4840=) rs1656939166
NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)
NM_206933.4(USH2A):c.14579A>G (p.His4860Arg)
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14649del (p.Ile4883fs) rs1656901821
NM_206933.4(USH2A):c.14663C>T (p.Thr4888Met)
NM_206933.4(USH2A):c.14702C>T (p.Pro4901Leu)
NM_206933.4(USH2A):c.14739C>A (p.Asn4913Lys)
NM_206933.4(USH2A):c.14748C>T (p.Gly4916=) rs749572330
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs) rs1656646221
NM_206933.4(USH2A):c.14916C>T (p.Arg4972=)
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
NM_206933.4(USH2A):c.14934C>T (p.Asp4978=)
NM_206933.4(USH2A):c.14950C>G (p.Pro4984Ala)
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.15013A>C (p.Lys5005Gln)
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs) rs1656416727
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.15192A>G (p.Gln5064=)
NM_206933.4(USH2A):c.151A>T (p.Ile51Phe) rs886043442
NM_206933.4(USH2A):c.15205A>G (p.Lys5069Glu)
NM_206933.4(USH2A):c.15240_15243del (p.Pro5081fs) rs2102630480
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.1550+2T>C rs2037658254
NM_206933.4(USH2A):c.15519+1dup
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.1562A>G (p.His521Arg)
NM_206933.4(USH2A):c.1644+2T>A rs2037617658
NM_206933.4(USH2A):c.1644+5G>C rs1558036810
NM_206933.4(USH2A):c.1645-2A>C
NM_206933.4(USH2A):c.1646G>A (p.Cys549Tyr)
NM_206933.4(USH2A):c.1654T>A (p.Cys552Ser)
NM_206933.4(USH2A):c.1672del (p.Asp558fs) rs2037018431
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.4(USH2A):c.1774_1792del (p.Pro592fs)
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.1907_1911del (p.Asp636fs)
NM_206933.4(USH2A):c.1912_1913insCACAG (p.Cys638fs)
NM_206933.4(USH2A):c.199T>C (p.Cys67Arg)
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.2098G>A (p.Gly700Arg)
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.4(USH2A):c.2293del (p.Gln765fs) rs2036066604
NM_206933.4(USH2A):c.263G>T (p.Cys88Phe) rs2039687321
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp) rs753787393
NM_206933.4(USH2A):c.2866A>G (p.Thr956Ala)
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs) rs2035704899
NM_206933.4(USH2A):c.2993+3A>T rs1201261740
NM_206933.4(USH2A):c.299T>A (p.Leu100His) rs1558082163
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser) rs2035366945
NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe) rs1475306303
NM_206933.4(USH2A):c.3157+5G>A rs777673655
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.4(USH2A):c.3351del (p.Tyr1118fs)
NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser) rs2034946086
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_206933.4(USH2A):c.35T>G (p.Phe12Cys)
NM_206933.4(USH2A):c.3619A>G (p.Ile1207Val)
NM_206933.4(USH2A):c.3650A>G (p.Asp1217Gly)
NM_206933.4(USH2A):c.3718del (p.Gln1240fs)
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3934del (p.Ala1312fs) rs2102464166
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4062A>G (p.Ser1354=) rs1173545767
NM_206933.4(USH2A):c.4083A>C (p.Ala1361=)
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser) rs755867377
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4231A>G (p.Ile1411Val)
NM_206933.4(USH2A):c.4241C>T (p.Ala1414Val)
NM_206933.4(USH2A):c.4251+1G>A rs878853405
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4384del (p.Thr1462fs) rs2034687946
NM_206933.4(USH2A):c.4431_4448del (p.Ile1478_Ile1483del)
NM_206933.4(USH2A):c.4580A>G (p.Tyr1527Cys)
NM_206933.4(USH2A):c.4627+3_4627+6del
NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr) rs2032460768
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter) rs2032459600
NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val) rs2032458819
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg) rs2032221850
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs) rs2032220940
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs) rs1558251742
NM_206933.4(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.4(USH2A):c.4919T>C (p.Ile1640Thr) rs2102563226
NM_206933.4(USH2A):c.4996C>G (p.Gln1666Glu)
NM_206933.4(USH2A):c.5002G>C (p.Gly1668Arg)
NM_206933.4(USH2A):c.5249A>G (p.Asn1750Ser)
NM_206933.4(USH2A):c.5391_5395del (p.Asn1797fs)
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly) rs777011507
NM_206933.4(USH2A):c.5459T>C (p.Met1820Thr) rs201643378
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr) rs755032078
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
NM_206933.4(USH2A):c.5573G>A (p.Gly1858Asp)
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.5629G>T (p.Ala1877Ser)
NM_206933.4(USH2A):c.5664G>A (p.Leu1888=) rs2102549080
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=) rs747419030
NM_206933.4(USH2A):c.5776+1del
NM_206933.4(USH2A):c.5784G>A (p.Leu1928=)
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala) rs2031607129
NM_206933.4(USH2A):c.5837G>A (p.Arg1946Gln)
NM_206933.4(USH2A):c.5857+1G>C rs2031604509
NM_206933.4(USH2A):c.5865_5866del (p.Ser1956fs)
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.5933del (p.Pro1978fs)
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.5990C>T (p.Thr1997Ile) rs2031510445
NM_206933.4(USH2A):c.6042C>A (p.Asn2014Lys)
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr) rs878853403
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6326-1G>A rs878853411
NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly) rs1668244820
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.6470del (p.Arg2157fs) rs878853414
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser)
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.6643C>G (p.Leu2215Val)
NM_206933.4(USH2A):c.6690G>C (p.Glu2230Asp)
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.4(USH2A):c.6806-2A>C
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His) rs1421761057
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg) rs2038568675
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.6905A>C (p.His2302Pro) rs1208209655
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7232A>C (p.Gln2411Pro)
NM_206933.4(USH2A):c.7252C>T (p.Gln2418Ter)
NM_206933.4(USH2A):c.725dup (p.Ser243fs) rs1195779037
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del) rs1665478442
NM_206933.4(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.4(USH2A):c.7416G>C (p.Gln2472His)
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=) rs150372183
NM_206933.4(USH2A):c.7468del (p.Ser2490fs) rs1665453379
NM_206933.4(USH2A):c.7499T>G (p.Leu2500Arg)
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del) rs766071177
NM_206933.4(USH2A):c.7572T>G (p.Ile2524Met)
NM_206933.4(USH2A):c.7660C>T (p.Gln2554Ter)
NM_206933.4(USH2A):c.775_776del (p.Ser259fs) rs2038566220
NM_206933.4(USH2A):c.780A>G (p.Leu260=)
NM_206933.4(USH2A):c.7847C>A (p.Thr2616Asn)
NM_206933.4(USH2A):c.785-3C>G rs2037762626
NM_206933.4(USH2A):c.7870C>T (p.Pro2624Ser)
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.7932G>C (p.Trp2644Cys)
NM_206933.4(USH2A):c.7940del (p.Pro2647fs) rs1665132445
NM_206933.4(USH2A):c.7949C>G (p.Pro2650Arg)
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.7972A>G (p.Thr2658Ala)
NM_206933.4(USH2A):c.8075C>T (p.Pro2692Leu)
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8105T>G (p.Met2702Arg)
NM_206933.4(USH2A):c.8189C>A (p.Pro2730His) rs1665121843
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.8211del (p.Asp2738fs)
NM_206933.4(USH2A):c.8276T>C (p.Ile2759Thr)
NM_206933.4(USH2A):c.8339T>A (p.Val2780Asp)
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.852_853del rs1188025733
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs) rs1664810877
NM_206933.4(USH2A):c.8682-16C>G rs958618933
NM_206933.4(USH2A):c.8859del (p.Gln2954fs) rs1663836291
NM_206933.4(USH2A):c.9110G>C (p.Arg3037Pro)
NM_206933.4(USH2A):c.9201T>A (p.Asn3067Lys)
NM_206933.4(USH2A):c.9205C>T (p.Pro3069Ser)
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9265G>A (p.Val3089Ile)
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9307del (p.Ile3103fs) rs1558121260
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) rs756163056
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser) rs1662773660
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) rs1662771528
NM_206933.4(USH2A):c.9770A>G (p.Asn3257Ser)
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del) rs1246009294
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter) rs2039690812
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys) rs1662218841
NM_206933.4(USH2A):c.9958G>A (p.Gly3320Ser)

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