ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1164
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
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.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 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.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
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.13274C>T (p.Thr4425Met) rs201238640 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.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 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.9258G>T (p.Gln3086His) rs1380261595 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136 0.00004
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843 0.00003
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) rs141696914 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 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.3507G>A (p.Trp1169Ter) rs1064793745 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.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 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.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro) rs750321557 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 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.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.14344-1G>T rs919142559 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.1644+1G>A rs912980910 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys) rs753908845 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 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.6672dup (p.Gly2225fs) rs1284826852 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NC_000001.10:g.216373413A>G rs794729204 0.00001
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) rs762384558 0.00001
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10586-2A>G rs370327669 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+1G>T rs368770647 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395 0.00001
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256 0.00001
NM_206933.4(USH2A):c.11516del (p.Gln3839fs) rs1558078416 0.00001
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile) rs949082769 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 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.12151G>T (p.Glu4051Ter) rs1262416703 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.12283G>A (p.Gly4095Ser) rs1315543696 0.00001
NM_206933.4(USH2A):c.12469dup (p.Ser4157fs) rs773417196 0.00001
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) rs147304271 0.00001
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387 0.00001
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His) rs140202956 0.00001
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys) rs1423233510 0.00001
NM_206933.4(USH2A):c.13084C>T (p.Pro4362Ser) rs763301021 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072 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.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.13742del (p.His4581fs) rs1476222580 0.00001
NM_206933.4(USH2A):c.13811+1G>A rs1177257719 0.00001
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val) rs1553250627 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser) rs1254637647 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.14406_14407insTC (p.Ile4803fs) rs1656944247 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter) rs1656936749 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.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.14996C>T (p.Thr4999Ile) rs1407860955 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.1547G>T (p.Gly516Val) rs1415484067 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.172T>C (p.Cys58Arg) rs2039689429 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 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.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter) rs1364987785 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 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.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.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292 0.00001
NM_206933.4(USH2A):c.4086del (p.Val1363fs) rs2034854568 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4325T>C (p.Phe1442Ser) rs766108245 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg) rs769198746 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.4837dup (p.Ile1613fs) rs2032220637 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.5298+5G>A rs1176314553 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) rs1171672823 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.6050-1G>A rs1035024403 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.6926G>T (p.Cys2309Phe) rs748983904 0.00001
NM_206933.4(USH2A):c.6956del (p.Leu2319fs) rs1201446573 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.7301-1G>A rs1438496892 0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978 0.00001
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201 0.00001
NM_206933.4(USH2A):c.8845+2T>G rs1441350225 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) rs748465849 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.9304C>T (p.Gln3102Ter) rs397518046 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter) rs760858249 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.9912dup (p.Glu3305fs) rs759255743 0.00001
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr) rs983763783 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NC_000001.10:g.(?_215799113)_(215802387_?)del
NC_000001.10:g.(?_215799113)_(215853728_?)del
NC_000001.10:g.(?_215799123)_(215844655_?)del
NC_000001.10:g.(?_215799123)_(216538447_?)del
NC_000001.10:g.(?_215807781)_(215812600_?)del
NC_000001.10:g.(?_215823914)_(215824163_?)del
NC_000001.10:g.(?_215844294)_(215848978_?)del
NC_000001.10:g.(?_215844304)_(216270565_?)del
NC_000001.10:g.(?_215844314)_(215853718_?)del
NC_000001.10:g.(?_215847422)_(215901746_?)del
NC_000001.10:g.(?_215853471)_(215853738_?)del
NC_000001.10:g.(?_215853471)_(215956297_?)del
NC_000001.10:g.(?_215901362)_(215901736_?)del
NC_000001.10:g.(?_215901362)_(215940140_?)del
NC_000001.10:g.(?_215914697)_(215933205_?)dup
NC_000001.10:g.(?_215914707)_(215933195_?)dup
NC_000001.10:g.(?_215940003)_(216108157_?)del
NC_000001.10:g.(?_215940023)_(216108137_?)del
NC_000001.10:g.(?_215953165)_(216270575_?)del
NC_000001.10:g.(?_215960002)_(215960226_?)del
NC_000001.10:g.(?_215972229)_(216270575_?)del
NC_000001.10:g.(?_215972239)_(216074257_?)del
NC_000001.10:g.(?_215987058)_(215987266_?)del
NC_000001.10:g.(?_215987058)_(216019395_?)del
NC_000001.10:g.(?_215987078)_(216019375_?)del
NC_000001.10:g.(?_216003270)_(216011369_?)del
NC_000001.10:g.(?_216011313)_(216011465_?)del
NC_000001.10:g.(?_216011313)_(216017858_?)del
NC_000001.10:g.(?_216011313)_(216074267_?)del
NC_000001.10:g.(?_216017616)_(216019395_?)del
NC_000001.10:g.(?_216017626)_(216017848_?)del
NC_000001.10:g.(?_216039721)_(216064540_?)del
NC_000001.10:g.(?_216051090)_(216052450_?)del
NC_000001.10:g.(?_216061748)_(216074267_?)del
NC_000001.10:g.(?_216061748)_(216270575_?)del
NC_000001.10:g.(?_216107938)_(216173924_?)del
NC_000001.10:g.(?_216138639)_(216173924_?)del
NC_000001.10:g.(?_216164627)_(216166453_?)del
NC_000001.10:g.(?_216166342)_(216260182_?)del
NC_000001.10:g.(?_216166342)_(216538447_?)del
NC_000001.10:g.(?_216166352)_(216173914_?)del
NC_000001.10:g.(?_216166362)_(216166509_?)del
NC_000001.10:g.(?_216172219)_(216173914_?)del
NC_000001.10:g.(?_216172699)_216173911del
NC_000001.10:g.(?_216173735)_(216348834_?)del
NC_000001.10:g.(?_216221876)_(216270555_?)del
NC_000001.10:g.(?_216243423)_(216262501_?)del
NC_000001.10:g.(?_216243423)_(216538447_?)del
NC_000001.10:g.(?_216251421)_(216258229_?)del
NC_000001.10:g.(?_216256788)_(216270565_?)del
NC_000001.10:g.(?_216260041)_(216262501_?)del
NC_000001.10:g.(?_216260041)_(216270575_?)del
NC_000001.10:g.(?_216270405)_(216424460_?)del
NC_000001.10:g.(?_216348574)_(216348844_?)del
NC_000001.10:g.(?_216348574)_(216363729_?)del
NC_000001.10:g.(?_216348574)_(216373483_?)del
NC_000001.10:g.(?_216348574)_(216390912_?)del
NC_000001.10:g.(?_216348574)_(216405498_?)del
NC_000001.10:g.(?_216348580)_(216348824_?)del
NC_000001.10:g.(?_216363555)_(216363719_?)del
NC_000001.10:g.(?_216363555)_(216390902_?)del
NC_000001.10:g.(?_216363555)_(216405488_?)del
NC_000001.10:g.(?_216363565)_(216373463_?)del
NC_000001.10:g.(?_216363595)_(216374941_?)del
NC_000001.10:g.(?_216369875)_(216373483_?)del
NC_000001.10:g.(?_216369875)_(216424460_?)del
NC_000001.10:g.(?_216380605)_(216424450_?)del
NC_000001.10:g.(?_216405285)_(216405488_?)del
NC_000001.10:g.(?_216419917)_(216501006_?)del
NC_000001.10:g.(?_216465497)_(216465732_?)del
NC_000001.10:g.(?_216495205)_(216497057_?)del
NC_000001.10:g.(?_216495205)_(216501016_?)del
NC_000001.10:g.(?_216495215)_(216498951_?)del
NC_000001.10:g.(?_216495225)_(216500996_?)del
NC_000001.10:g.(?_216497583)_(216503303_?)del
NC_000001.10:g.(?_216538275)_(216596610_?)del
NC_000001.10:g.(?_216595184)_(216596610_?)del
NC_000001.11:g.(?_215670962)_(215671303_?)del
NC_000001.11:g.(?_215670962)_(215675626_?)del
NC_000001.11:g.(?_215813726)_(215817205_?)del
NC_000001.11:g.(?_215837981)_(215838113_?)del
NC_000001.11:g.(?_215837981)_(215846043_?)del
NC_000001.11:g.(?_215837991)_(215844496_?)dup
NC_000001.11:g.(?_215837991)_(215846033_?)del
NC_000001.11:g.(?_215993010)_(215993177_?)del
NC_000001.11:g.(?_216070101)_(216097213_?)del
NC_000001.11:g.(?_216078079)_(216078372_?)del
NC_000001.11:g.(?_216086709)_(216097223_?)del
NC_000001.11:g.(?_216089003)_(216097223_?)del
NC_000001.11:g.(?_216097073)_(216097223_?)del
NC_000001.11:g.(?_216175228)_(216175492_?)del
NC_000001.11:g.(?_216217387)_(216292370_?)del
NC_000001.11:g.(?_216250893)_(216251108_?)del
NC_000001.11:g.(?_216289280)_(216292370_?)del
NC_000001.11:g.(?_216292165)_(216327664_?)del
NC_000001.11:g.(?_216321873)_(216327664_?)del
NC_000001.11:g.(?_216364953)_(216365085_?)del
NC_000001.11:g.216083590_216083591insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCAGGAACCCTTT
NC_000001.11:g.216418542_216418680del rs2102783758
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.2(USH2A):c.(?_4628)_(4987_?)del
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del
NM_206933.2(USH2A):c.11048-?_11711+?dup
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.850_853delGAGA
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.4(USH2A):c.10071del (p.Lys3357fs) rs2102769969
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter) rs1403618793
NM_206933.4(USH2A):c.10096_10097del (p.Lys3366fs) rs2102769946
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10102C>T (p.Gln3368Ter)
NM_206933.4(USH2A):c.10159del (p.Ile3387fs)
NM_206933.4(USH2A):c.10183-2A>G rs1661818720
NM_206933.4(USH2A):c.10183G>T (p.Glu3395Ter) rs2102767109
NM_206933.4(USH2A):c.10192G>T (p.Glu3398Ter)
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter) rs1183957540
NM_206933.4(USH2A):c.10209C>A (p.Cys3403Ter)
NM_206933.4(USH2A):c.1026_1029del (p.Ser343fs) rs1458938381
NM_206933.4(USH2A):c.10314del (p.Ser3439fs) rs2102766886
NM_206933.4(USH2A):c.10318del (p.Ile3440fs) rs1553261898
NM_206933.4(USH2A):c.10324G>T (p.Glu3442Ter) rs1388161283
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
NM_206933.4(USH2A):c.10350dup (p.Ile3451fs) rs2102766834
NM_206933.4(USH2A):c.10380_10381del (p.Tyr3461fs) rs2102766786
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.4(USH2A):c.10388-1G>A rs1553261478
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.1039G>C (p.Asp347His) rs772317024
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del) rs1553250786
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter) rs1661687852
NM_206933.4(USH2A):c.10437G>A (p.Trp3479Ter) rs1308924086
NM_206933.4(USH2A):c.10446T>A (p.Tyr3482Ter) rs767501966
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10464del (p.Ala3489fs)
NM_206933.4(USH2A):c.10466del (p.Ala3489fs)
NM_206933.4(USH2A):c.10498C>T (p.Gln3500Ter)
NM_206933.4(USH2A):c.10502_10535dup (p.Asn3512fs) rs2102763421
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.4(USH2A):c.10561T>A (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.10569dup (p.Pro3524fs)
NM_206933.4(USH2A):c.10576C>T (p.Gln3526Ter)
NM_206933.4(USH2A):c.10585+3A>G rs2102763350
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10626del (p.Glu3542fs) rs1558095403
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter) rs1553261372
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.4(USH2A):c.10666G>T (p.Gly3556Ter) rs1661660762
NM_206933.4(USH2A):c.10689T>A (p.Tyr3563Ter)
NM_206933.4(USH2A):c.10690_10693dup (p.Tyr3565fs) rs2102762663
NM_206933.4(USH2A):c.10691C>G (p.Ser3564Ter)
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.10702A>T (p.Lys3568Ter)
NM_206933.4(USH2A):c.10714del (p.Val3572fs)
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)
NM_206933.4(USH2A):c.10829G>A (p.Trp3610Ter) rs2102760660
NM_206933.4(USH2A):c.10845_10851del (p.Ser3616fs) rs1661579382
NM_206933.4(USH2A):c.10861A>T (p.Lys3621Ter)
NM_206933.4(USH2A):c.10869_10871del (p.Tyr3623_Gln3624delinsTer) rs1167455690
NM_206933.4(USH2A):c.10924C>T (p.Gln3642Ter)
NM_206933.4(USH2A):c.10934_10935dup (p.Thr3646fs)
NM_206933.4(USH2A):c.10939+2T>G
NM_206933.4(USH2A):c.10962C>A (p.Tyr3654Ter) rs1661141590
NM_206933.4(USH2A):c.10982del (p.Cys3661fs) rs2102748161
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter) rs1661140054
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.4(USH2A):c.11074del (p.Ile3692fs) rs1660926805
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) rs755804518
NM_206933.4(USH2A):c.110del (p.Phe37fs)
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter) rs143453173
NM_206933.4(USH2A):c.11106G>A (p.Trp3702Ter) rs2102742278
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11146C>T (p.Gln3716Ter) rs771260365
NM_206933.4(USH2A):c.11189del (p.Glu3730fs) rs1660922779
NM_206933.4(USH2A):c.11194C>T (p.Gln3732Ter)
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter) rs768062696
NM_206933.4(USH2A):c.1126G>T (p.Glu376Ter) rs2102655719
NM_206933.4(USH2A):c.11288_11295del (p.Tyr3763fs) rs2102741288
NM_206933.4(USH2A):c.11289C>A (p.Tyr3763Ter)
NM_206933.4(USH2A):c.1130del (p.Asn377fs)
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs) rs762070900
NM_206933.4(USH2A):c.1135C>T (p.Gln379Ter)
NM_206933.4(USH2A):c.11361T>A (p.Tyr3787Ter) rs1660884486
NM_206933.4(USH2A):c.11389+1G>A rs368770647
NM_206933.4(USH2A):c.11389+1del rs1414935620
NM_206933.4(USH2A):c.11389+2T>C rs1192810508
NM_206933.4(USH2A):c.11389+2T>G
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.11416G>T (p.Glu3806Ter)
NM_206933.4(USH2A):c.11421C>A (p.Tyr3807Ter)
NM_206933.4(USH2A):c.1143+2T>G
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11488_11492del (p.Leu3830fs)
NM_206933.4(USH2A):c.11515C>T (p.Gln3839Ter) rs2102727387
NM_206933.4(USH2A):c.1152T>G (p.Tyr384Ter)
NM_206933.4(USH2A):c.11533C>T (p.Gln3845Ter)
NM_206933.4(USH2A):c.1153_1157del (p.Ile385fs) rs2102654383
NM_206933.4(USH2A):c.11548+2T>G rs1371160062
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11549-1G>T
NM_206933.4(USH2A):c.11549del rs1660304704
NM_206933.4(USH2A):c.11556T>A (p.Cys3852Ter)
NM_206933.4(USH2A):c.11564del (p.Ser3855fs)
NM_206933.4(USH2A):c.11566del (p.Ser3856fs)
NM_206933.4(USH2A):c.11660G>A (p.Trp3887Ter) rs1660298900
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter) rs1553257498
NM_206933.4(USH2A):c.11709C>G (p.Tyr3903Ter) rs1325668081
NM_206933.4(USH2A):c.11724_11725del (p.Gly3908_Ile3909insTer) rs1659895310
NM_206933.4(USH2A):c.11745_11748del (p.Phe3916fs) rs2102713794
NM_206933.4(USH2A):c.11756C>G (p.Ser3919Ter)
NM_206933.4(USH2A):c.11770G>T (p.Glu3924Ter)
NM_206933.4(USH2A):c.11806A>C (p.Thr3936Pro) rs2102713705
NM_206933.4(USH2A):c.11811_11812del (p.Tyr3938fs)
NM_206933.4(USH2A):c.11815_11816dup (p.Tyr3940fs) rs2102713688
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs) rs1659891151
NM_206933.4(USH2A):c.11824del (p.Val3942fs)
NM_206933.4(USH2A):c.11824dup (p.Val3942fs) rs1659891000
NM_206933.4(USH2A):c.11829_11851del (p.Arg3943fs) rs2102713621
NM_206933.4(USH2A):c.11867C>G (p.Ser3956Ter) rs754104931
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.11881_11882del (p.Leu3961fs)
NM_206933.4(USH2A):c.11955G>A (p.Trp3985Ter) rs942584750
NM_206933.4(USH2A):c.12006C>A (p.Tyr4002Ter) rs2102713360
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12067-2A>C
NM_206933.4(USH2A):c.12085del (p.His4029fs)
NM_206933.4(USH2A):c.12086dup (p.His4029fs)
NM_206933.4(USH2A):c.12093del (p.Leu4030_Tyr4031insTer) rs1658186071
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg) rs908265742
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.4(USH2A):c.12100G>T (p.Glu4034Ter) rs794729203
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) rs1571953449
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12154del (p.Ile4052fs)
NM_206933.4(USH2A):c.12164del (p.Pro4055fs) rs2102671802
NM_206933.4(USH2A):c.12172_12174delinsTAAA (p.Leu4058Ter)
NM_206933.4(USH2A):c.12202G>T (p.Gly4068Ter) rs1430838005
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.12253dup (p.Leu4085fs)
NM_206933.4(USH2A):c.12269C>G (p.Pro4090Arg) rs1658178709
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) rs2037682180
NM_206933.4(USH2A):c.12274del (p.Arg4092fs) rs1558051141
NM_206933.4(USH2A):c.1228G>T (p.Glu410Ter) rs1571702193
NM_206933.4(USH2A):c.12294+1G>C rs111033526
NM_206933.4(USH2A):c.12294+2T>C rs2102671641
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter) rs1657997730
NM_206933.4(USH2A):c.12300C>G (p.Tyr4100Ter) rs1657997730
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.1234T>A (p.Trp412Arg)
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys) rs757525434
NM_206933.4(USH2A):c.12381_12382del (p.Tyr4128fs) rs2102667069
NM_206933.4(USH2A):c.12394del (p.Leu4132fs) rs1558049084
NM_206933.4(USH2A):c.12409del (p.Arg4137fs) rs1657992342
NM_206933.4(USH2A):c.12472C>T (p.Gln4158Ter) rs2102666887
NM_206933.4(USH2A):c.12497_13811+148del
NM_206933.4(USH2A):c.12523_12532del (p.Trp4175fs) rs2102666781
NM_206933.4(USH2A):c.12525G>A (p.Trp4175Ter) rs1657987278
NM_206933.4(USH2A):c.12525G>T (p.Trp4175Cys) rs1657987278
NM_206933.4(USH2A):c.12641del (p.Thr4214fs)
NM_206933.4(USH2A):c.12695C>T (p.Pro4232Leu)
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.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.4(USH2A):c.12728G>A (p.Trp4243Ter) rs2102666433
NM_206933.4(USH2A):c.12743_12747del (p.His4248fs)
NM_206933.4(USH2A):c.12759_12768del (p.Ser4252_Trp4253insTer)
NM_206933.4(USH2A):c.12794del (p.Gly4265fs) rs1571949264
NM_206933.4(USH2A):c.12801_12802dup (p.Pro4268fs) rs2102666300
NM_206933.4(USH2A):c.12806C>A (p.Pro4269His)
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter) rs766491471
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs) rs1553252469
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.12886C>T (p.Gln4296Ter) rs2102666136
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.4(USH2A):c.12979del (p.Ser4327fs) rs1657955465
NM_206933.4(USH2A):c.12987T>G (p.Tyr4329Ter) rs1203365063
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter) rs367850936
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13016del (p.Gly4339fs) rs2102665932
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe) rs397517985
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs) rs1657950450
NM_206933.4(USH2A):c.13070C>G (p.Ser4357Ter)
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.13131del (p.Pro4378fs) rs2102665766
NM_206933.4(USH2A):c.13137del (p.Thr4380fs)
NM_206933.4(USH2A):c.13187_13188del (p.Lys4396fs)
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.13210del (p.Leu4404fs) rs1190020491
NM_206933.4(USH2A):c.13215C>A (p.Cys4405Ter) rs370176892
NM_206933.4(USH2A):c.13256del (p.Phe4419fs)
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter) rs1657939866
NM_206933.4(USH2A):c.1328+1G>C
NM_206933.4(USH2A):c.13286_13302del (p.Gly4428_Cys4429insTer) rs2102665496
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.13337del (p.Asn4446fs)
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13365dup (p.Gly4456fs)
NM_206933.4(USH2A):c.13370C>G (p.Ser4457Ter) rs2102665356
NM_206933.4(USH2A):c.13372_13387del (p.Glu4458fs) rs2102665328
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter)
NM_206933.4(USH2A):c.13393A>T (p.Lys4465Ter) rs2102665314
NM_206933.4(USH2A):c.13417C>T (p.Gln4473Ter) rs2102665279
NM_206933.4(USH2A):c.13419_13420del (p.Gln4473fs) rs2102665272
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser) rs1293619630
NM_206933.4(USH2A):c.13474_13481del (p.Thr4492fs)
NM_206933.4(USH2A):c.13481A>G (p.Tyr4494Cys) rs1322092837
NM_206933.4(USH2A):c.13524del (p.Thr4508_Val4509insTer)
NM_206933.4(USH2A):c.13524dup (p.Val4509fs)
NM_206933.4(USH2A):c.13547G>A (p.Gly4516Glu)
NM_206933.4(USH2A):c.13550del (p.Gly4517fs)
NM_206933.4(USH2A):c.13590dup (p.Ala4531fs) rs2102664921
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs) rs1485393201
NM_206933.4(USH2A):c.13596dup (p.Ser4533fs)
NM_206933.4(USH2A):c.13598C>G (p.Ser4533Ter) rs1657921221
NM_206933.4(USH2A):c.13599del (p.Met4535fs) rs2102664886
NM_206933.4(USH2A):c.13634del (p.Pro4545fs) rs2102664808
NM_206933.4(USH2A):c.13639del (p.Glu4547fs)
NM_206933.4(USH2A):c.13731_13743del (p.Thr4577_Lys4578insTer)
NM_206933.4(USH2A):c.13732_13796dup (p.Lys4600_Pro4601insSerTyrThrTerLys) rs2102664474
NM_206933.4(USH2A):c.13763del (p.Ser4588fs)
NM_206933.4(USH2A):c.13778C>A (p.Ser4593Ter) rs1202573136
NM_206933.4(USH2A):c.13784_13785del (p.Ile4595fs)
NM_206933.4(USH2A):c.13812-1G>A rs199782530
NM_206933.4(USH2A):c.13812-1G>T
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.13865G>A (p.Trp4622Ter)
NM_206933.4(USH2A):c.13866G>A (p.Trp4622Ter)
NM_206933.4(USH2A):c.13876C>T (p.Gln4626Ter) rs1657805631
NM_206933.4(USH2A):c.13877_13880del (p.Gln4626fs)
NM_206933.4(USH2A):c.1387_1416del (p.Tyr463_Asn472del) rs1005235415
NM_206933.4(USH2A):c.13886_13902del (p.Glu4629fs) rs2102661452
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.4(USH2A):c.13925_13926dup (p.Gln4643fs)
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln) rs761367363
NM_206933.4(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.4(USH2A):c.13993G>T (p.Gly4665Ter) rs2102661344
NM_206933.4(USH2A):c.14007T>A (p.Tyr4669Ter) rs1657800056
NM_206933.4(USH2A):c.1401C>A (p.Tyr467Ter) rs887496752
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter) rs1657798642
NM_206933.4(USH2A):c.14049del (p.Lys4683fs)
NM_206933.4(USH2A):c.14087del (p.Ser4696fs) rs2102661201
NM_206933.4(USH2A):c.14091del (p.Phe4697fs) rs2102661189
NM_206933.4(USH2A):c.14101G>T (p.Glu4701Ter) rs372966682
NM_206933.4(USH2A):c.14110_14111insA (p.Pro4704fs) rs2102661164
NM_206933.4(USH2A):c.14124T>G (p.Tyr4708Ter) rs2102661156
NM_206933.4(USH2A):c.14130T>G (p.Tyr4710Ter)
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.1415_1494delinsG (p.Asn472fs)
NM_206933.4(USH2A):c.14161del (p.Ala4721fs)
NM_206933.4(USH2A):c.14166del (p.Ser4723fs)
NM_206933.4(USH2A):c.1416_1441del (p.Asn472fs)
NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter)
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14181G>A (p.Trp4727Ter) rs935176131
NM_206933.4(USH2A):c.14217del (p.Ala4740fs)
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) rs1657036615
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.4(USH2A):c.14273dup (p.Gly4759fs) rs2102644857
NM_206933.4(USH2A):c.14283_14304del (p.Asn4762fs)
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14287G>C (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu) rs781195579
NM_206933.4(USH2A):c.14289del (p.Ile4764fs) rs2102644832
NM_206933.4(USH2A):c.14302_14305dup (p.Arg4769fs) rs2102644805
NM_206933.4(USH2A):c.14309dup (p.Phe4771fs) rs2102644788
NM_206933.4(USH2A):c.1432G>T (p.Glu478Ter) rs1364214310
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.4(USH2A):c.14407_14431del (p.Ile4803fs)
NM_206933.4(USH2A):c.14408_14420del (p.Ile4803fs)
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer) rs1656942613
NM_206933.4(USH2A):c.14441G>T (p.Cys4814Phe) rs2102643210
NM_206933.4(USH2A):c.14483del (p.Pro4828fs)
NM_206933.4(USH2A):c.14487del (p.Ser4830fs) rs2102643165
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter) rs766370703
NM_206933.4(USH2A):c.14529del (p.Thr4844fs) rs1656938047
NM_206933.4(USH2A):c.14532_14535del (p.Ala4845fs)
NM_206933.4(USH2A):c.14551_14560del (p.Pro4851fs)
NM_206933.4(USH2A):c.14561del (p.Phe4854fs)
NM_206933.4(USH2A):c.14565del (p.Asn4856fs)
NM_206933.4(USH2A):c.14583-1G>T
NM_206933.4(USH2A):c.14620_14629del (p.Ser4874fs)
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter) rs948087886
NM_206933.4(USH2A):c.1467del (p.His490fs) rs1371262635
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.4(USH2A):c.1473_1474delinsTT (p.Gln492Ter)
NM_206933.4(USH2A):c.1476_1491del (p.Tyr493fs)
NM_206933.4(USH2A):c.14777_14783del (p.Thr4926fs) rs1571928405
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14791+1G>A rs1656892077
NM_206933.4(USH2A):c.14791+2T>A rs1553250050
NM_206933.4(USH2A):c.14791+4A>G rs1408904076
NM_206933.4(USH2A):c.14792-1G>A
NM_206933.4(USH2A):c.1479C>A (p.Tyr493Ter)
NM_206933.4(USH2A):c.14831del (p.Leu4944fs) rs2102636085
NM_206933.4(USH2A):c.14834_14837del (p.Ser4945fs) rs2102636068
NM_206933.4(USH2A):c.14838_14839del (p.Val4949fs) rs2102636059
NM_206933.4(USH2A):c.14857dup (p.Asp4953fs) rs2102636047
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs) rs1656646221
NM_206933.4(USH2A):c.14880_14881insGA (p.Leu4961fs) rs1656647155
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs) rs2102636006
NM_206933.4(USH2A):c.14892C>A (p.Tyr4964Ter)
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.4(USH2A):c.14897del (p.Val4965_Leu4966insTer)
NM_206933.4(USH2A):c.14905G>T (p.Gly4969Ter) rs753226272
NM_206933.4(USH2A):c.14941del (p.Leu4981fs)
NM_206933.4(USH2A):c.14965A>T (p.Lys4989Ter) rs770658506
NM_206933.4(USH2A):c.14970del (p.Phe4991fs)
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.15031del (p.Tyr5011fs) rs2102634627
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.4(USH2A):c.15053-2A>C
NM_206933.4(USH2A):c.15082_15083del (p.Lys5028fs) rs2102630722
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.4(USH2A):c.15104_15105del (p.Thr5035fs) rs2102630677
NM_206933.4(USH2A):c.15118G>T (p.Glu5040Ter)
NM_206933.4(USH2A):c.15124_15125dup (p.Trp5042fs) rs2102630646
NM_206933.4(USH2A):c.15125G>A (p.Trp5042Ter) rs2102630643
NM_206933.4(USH2A):c.15126G>A (p.Trp5042Ter) rs2102630641
NM_206933.4(USH2A):c.15126del (p.Trp5042fs)
NM_206933.4(USH2A):c.15190C>T (p.Gln5064Ter)
NM_206933.4(USH2A):c.15199del (p.Ile5067fs) rs2102630527
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter) rs1426135314
NM_206933.4(USH2A):c.15223_15224del (p.Glu5075fs)
NM_206933.4(USH2A):c.15247C>T (p.Gln5083Ter) rs2102630468
NM_206933.4(USH2A):c.15260_15263dup (p.Leu5089fs)
NM_206933.4(USH2A):c.15266_15294del (p.Leu5089fs)
NM_206933.4(USH2A):c.15286del (p.Glu5096fs) rs1656408131
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) rs767209934
NM_206933.4(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.4(USH2A):c.15338_15339del (p.Val5113fs)
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) rs1656163649
NM_206933.4(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.4(USH2A):c.15389dup (p.Asn5130fs)
NM_206933.4(USH2A):c.15391C>T (p.Gln5131Ter)
NM_206933.4(USH2A):c.15393_15394insGG (p.Thr5132fs) rs2102625236
NM_206933.4(USH2A):c.15403del (p.Thr5135fs) rs770984400
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter)
NM_206933.4(USH2A):c.15440_15443dup (p.Met5149fs)
NM_206933.4(USH2A):c.15465del (p.Val5156fs) rs769582796
NM_206933.4(USH2A):c.15465dup (p.Val5156fs) rs769582796
NM_206933.4(USH2A):c.15479del (p.Asn5160fs)
NM_206933.4(USH2A):c.1548del (p.Arg517fs)
NM_206933.4(USH2A):c.1558T>A (p.Cys520Ser) rs2102650681
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)
NM_206933.4(USH2A):c.1588_1589insG (p.Thr530fs)
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser) rs111033273
NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter) rs1558036860
NM_206933.4(USH2A):c.1644+4A>G
NM_206933.4(USH2A):c.1645-2A>G
NM_206933.4(USH2A):c.1645-2A>T
NM_206933.4(USH2A):c.1665_1666del (p.Leu555_Tyr556insTer) rs2102611118
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1687C>T (p.Gln563Ter) rs2037017719
NM_206933.4(USH2A):c.1696C>T (p.Gln566Ter)
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1724G>C (p.Cys575Ser)
NM_206933.4(USH2A):c.1751G>T (p.Cys584Phe) rs2037016118
NM_206933.4(USH2A):c.1757_1758insATA (p.Tyr586Ter) rs2102610892
NM_206933.4(USH2A):c.1786del (p.Glu596fs)
NM_206933.4(USH2A):c.1802GAG[2] (p.Gly603del) rs2037014263
NM_206933.4(USH2A):c.1802del (p.Gly601fs)
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) rs2037013894
NM_206933.4(USH2A):c.1836_1839dup (p.Gly614fs) rs2102610607
NM_206933.4(USH2A):c.1840+1G>T
NM_206933.4(USH2A):c.1841-1G>A rs2102606531
NM_206933.4(USH2A):c.1898C>A (p.Ser633Ter)
NM_206933.4(USH2A):c.1903_1919del (p.Ile635fs)
NM_206933.4(USH2A):c.1914del (p.Val637_Cys638insTer)
NM_206933.4(USH2A):c.1927_1934del (p.Cys643fs)
NM_206933.4(USH2A):c.1963T>C (p.Cys655Arg)
NM_206933.4(USH2A):c.1978G>A (p.Gly660Arg) rs2102552084
NM_206933.4(USH2A):c.1979_1980insGGCTTTAAAAGCAGATGCTGAGAGAACACCTGGGATCTGAGGCTGCCTCAAAAGGCNNNNNNNNNNGCAAGCATCTGACAGCCTGGAACAGAACCCTGCACCCGCGAGTGAGGATCAGACAGCCTGGAGCAGCACCC (p.Gly660_Gln661insAlaLeuLysAlaAspAlaGluArgThrProGlyIleTer)
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser) rs1487450999
NM_206933.4(USH2A):c.1995_2002dup (p.Val668fs) rs2036151723
NM_206933.4(USH2A):c.201T>A (p.Cys67Ter)
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter) rs1571623023
NM_206933.4(USH2A):c.2029C>T (p.Gln677Ter) rs2102551941
NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter) rs367693972
NM_206933.4(USH2A):c.2071T>C (p.Cys691Arg)
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) rs376674482
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser) rs2036149054
NM_206933.4(USH2A):c.2099_2120del (p.Gly700fs)
NM_206933.4(USH2A):c.20C>G (p.Ser7Ter)
NM_206933.4(USH2A):c.2145dup (p.Lys716fs)
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser) rs1304016981
NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly)
NM_206933.4(USH2A):c.2168-2A>C rs993185407
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2194G>T (p.Gly732Ter)
NM_206933.4(USH2A):c.2228_2231del (p.Gly743fs) rs1305146157
NM_206933.4(USH2A):c.2232T>A (p.Cys744Ter)
NM_206933.4(USH2A):c.2245T>C (p.Cys749Arg)
NM_206933.4(USH2A):c.2251del (p.Leu751fs)
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.4(USH2A):c.2297G>A (p.Cys766Tyr) rs2036066367
NM_206933.4(USH2A):c.2301del (p.Glu767fs)
NM_206933.4(USH2A):c.2303del (p.Cys768fs) rs2102546166
NM_206933.4(USH2A):c.233del (p.Phe78fs)
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.4(USH2A):c.242dup (p.Arg82fs) rs2102788764
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.269A>G (p.Tyr90Cys) rs755435330
NM_206933.4(USH2A):c.271A>T (p.Arg91Ter)
NM_206933.4(USH2A):c.2846_2849dup (p.Cys951fs)
NM_206933.4(USH2A):c.2853C>A (p.Cys951Ter) rs755849157
NM_206933.4(USH2A):c.2878_2879del (p.Asn960fs) rs2102522326
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.292dup (p.Thr98fs) rs2102788650
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.2965dup (p.Tyr989fs)
NM_206933.4(USH2A):c.2967C>G (p.Tyr989Ter)
NM_206933.4(USH2A):c.2994-1G>A
NM_206933.4(USH2A):c.3004del (p.Cys1002fs) rs1572060089
NM_206933.4(USH2A):c.3015del (p.Leu1006fs)
NM_206933.4(USH2A):c.3039del (p.Cys1014fs)
NM_206933.4(USH2A):c.3073C>T (p.Gln1025Ter)
NM_206933.4(USH2A):c.3096T>A (p.Cys1032Ter) rs2102496332
NM_206933.4(USH2A):c.3157del (p.Thr1053fs)
NM_206933.4(USH2A):c.3166C>T (p.Gln1056Ter)
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3196dup (p.Ser1066fs)
NM_206933.4(USH2A):c.3220T>C (p.Trp1074Arg) rs1344390541
NM_206933.4(USH2A):c.3224_3225dup (p.Pro1076fs) rs1572051012
NM_206933.4(USH2A):c.3251G>A (p.Trp1084Ter) rs1363689100
NM_206933.4(USH2A):c.3252G>A (p.Trp1084Ter)
NM_206933.4(USH2A):c.3266del (p.Leu1089fs) rs2102480814
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.4(USH2A):c.3299dup (p.Asp1101fs)
NM_206933.4(USH2A):c.3317-2A>C
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.4(USH2A):c.3347T>G (p.Leu1116Ter)
NM_206933.4(USH2A):c.3372_3373del (p.Tyr1124_Ile1125insTer) rs2034949292
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.3384_3417del (p.Asn1129fs) rs1572042851
NM_206933.4(USH2A):c.3395del (p.Gly1132fs)
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3420_3423del (p.Tyr1141fs)
NM_206933.4(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.4(USH2A):c.3454_3455del (p.Leu1152fs)
NM_206933.4(USH2A):c.3455T>A (p.Leu1152Ter) rs2034946086
NM_206933.4(USH2A):c.3486dup (p.Asp1163fs)
NM_206933.4(USH2A):c.3493del (p.Ser1164_Val1165insTer) rs2034944843
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs) rs1553313844
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter) rs2102467034
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter) rs762167370
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3604G>T (p.Glu1202Ter) rs2034941445
NM_206933.4(USH2A):c.3611del (p.Thr1203_Ser1204insTer)
NM_206933.4(USH2A):c.3639dup (p.Ala1214fs)
NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter)
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter) rs767797828
NM_206933.4(USH2A):c.3680del (p.Gly1227fs)
NM_206933.4(USH2A):c.3684T>A (p.Cys1228Ter) rs2102466516
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.3699del (p.Ile1234fs) rs2034938612
NM_206933.4(USH2A):c.370dup (p.Ser124fs)
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg) rs768461447
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)
NM_206933.4(USH2A):c.3737dup (p.Ser1247fs) rs2034937352
NM_206933.4(USH2A):c.3742_3743dup (p.Pro1249fs) rs2102466345
NM_206933.4(USH2A):c.3781_3782del (p.Val1261fs)
NM_206933.4(USH2A):c.3788G>A (p.Trp1263Ter) rs1572042090
NM_206933.4(USH2A):c.3809del (p.Asn1270fs)
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter) rs2034908815
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
NM_206933.4(USH2A):c.3840_3841delinsCT (p.Met1280_Arg1281delinsIleTer) rs2102464408
NM_206933.4(USH2A):c.3850del (p.Arg1284fs) rs2102464376
NM_206933.4(USH2A):c.3862G>T (p.Glu1288Ter) rs2034907262
NM_206933.4(USH2A):c.3877G>T (p.Glu1293Ter)
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3890_3891del (p.Phe1297fs)
NM_206933.4(USH2A):c.3905G>A (p.Trp1302Ter)
NM_206933.4(USH2A):c.3906G>A (p.Trp1302Ter)
NM_206933.4(USH2A):c.3911_3917del (p.Ser1304fs) rs2034905123
NM_206933.4(USH2A):c.3911del (p.Ser1304fs) rs2102464224
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.3956del (p.Pro1319fs) rs2102464077
NM_206933.4(USH2A):c.4005T>G (p.Tyr1335Ter) rs2034901738
NM_206933.4(USH2A):c.402del (p.Cys135fs) rs1255535680
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) rs2034899784
NM_206933.4(USH2A):c.4061C>G (p.Ser1354Ter)
NM_206933.4(USH2A):c.4074_4078del (p.Glu1359fs) rs2102463707
NM_206933.4(USH2A):c.4082-1G>A rs747581764
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser) rs755867377
NM_206933.4(USH2A):c.4107_4124del (p.Val1370_Ser1375del) rs1558310707
NM_206933.4(USH2A):c.4108dup (p.Val1370fs)
NM_206933.4(USH2A):c.4117dup (p.Leu1373fs)
NM_206933.4(USH2A):c.4118del (p.Leu1373fs) rs2102460644
NM_206933.4(USH2A):c.4121_4122del (p.Ser1374fs) rs2102460635
NM_206933.4(USH2A):c.4128C>G (p.Tyr1376Ter)
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4184del (p.Val1395fs)
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter) rs2034849647
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter) rs1308702971
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4246dup (p.Ser1416fs) rs2102460254
NM_206933.4(USH2A):c.4249C>T (p.Gln1417Ter)
NM_206933.4(USH2A):c.4251+1G>T rs878853405
NM_206933.4(USH2A):c.4251+1del rs2102460236
NM_206933.4(USH2A):c.4273C>T (p.Gln1425Ter) rs2102655189
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs) rs1475129324
NM_206933.4(USH2A):c.4320T>A (p.Tyr1440Ter)
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4370C>A (p.Ser1457Ter) rs2034688425
NM_206933.4(USH2A):c.4378G>T (p.Gly1460Ter)
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile) rs2034687815
NM_206933.4(USH2A):c.4396+2T>C
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.4469C>A (p.Pro1490His) rs2034358073
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.4(USH2A):c.4478del (p.Leu1493fs)
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.4(USH2A):c.449T>G (p.Leu150Ter) rs1553258037
NM_206933.4(USH2A):c.4565dup (p.Ile1523fs) rs2102640989
NM_206933.4(USH2A):c.456_457insGGCTAAA (p.Trp153delinsGlyTer) rs2102788229
NM_206933.4(USH2A):c.457T>C (p.Trp153Arg)
NM_206933.4(USH2A):c.4615_4616insAA (p.Thr1539fs)
NM_206933.4(USH2A):c.4628-2A>G rs2032462132
NM_206933.4(USH2A):c.4628-2A>T
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs) rs747891004
NM_206933.4(USH2A):c.4696C>T (p.Gln1566Ter) rs966964402
NM_206933.4(USH2A):c.4698_4702del (p.Glu1567fs)
NM_206933.4(USH2A):c.469G>T (p.Glu157Ter) rs2102788200
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter) rs2032459600
NM_206933.4(USH2A):c.4758+1G>A
NM_206933.4(USH2A):c.4758+1del rs2102572705
NM_206933.4(USH2A):c.4759-2A>G rs2102565390
NM_206933.4(USH2A):c.475C>T (p.Gln159Ter) rs1558081965
NM_206933.4(USH2A):c.4769dup (p.Glu1591fs) rs2102565369
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg) rs2032221850
NM_206933.4(USH2A):c.4820G>A (p.Trp1607Ter) rs769612846
NM_206933.4(USH2A):c.4823A>G (p.His1608Arg) rs2032221370
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter) rs2032147505
NM_206933.4(USH2A):c.5001del (p.Gly1668fs)
NM_206933.4(USH2A):c.5007del (p.Phe1669fs)
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5012G>T (p.Gly1671Val) rs727505116
NM_206933.4(USH2A):c.5024del (p.Asp1675fs)
NM_206933.4(USH2A):c.5038A>T (p.Lys1680Ter) rs2032074764
NM_206933.4(USH2A):c.5046C>A (p.Tyr1682Ter)
NM_206933.4(USH2A):c.5079G>A (p.Trp1693Ter) rs2032072206
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.4(USH2A):c.5095C>T (p.Gln1699Ter)
NM_206933.4(USH2A):c.5109T>G (p.Tyr1703Ter)
NM_206933.4(USH2A):c.5151_5152del (p.Gln1718fs) rs2032068125
NM_206933.4(USH2A):c.5152C>T (p.Gln1718Ter)
NM_206933.4(USH2A):c.5153A>C (p.Gln1718Pro) rs2102561067
NM_206933.4(USH2A):c.5158del (p.Phe1719_Leu1720insTer) rs1571947978
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
NM_206933.4(USH2A):c.5242C>T (p.Gln1748Ter)
NM_206933.4(USH2A):c.5246T>G (p.Leu1749Ter) rs1558249837
NM_206933.4(USH2A):c.5250_5277del (p.Asn1750fs) rs2102559671
NM_206933.4(USH2A):c.5251G>A (p.Gly1751Arg)
NM_206933.4(USH2A):c.5352dup (p.Thr1785fs) rs1181345434
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter) rs2102554503
NM_206933.4(USH2A):c.5398T>C (p.Trp1800Arg)
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly) rs777011507
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.4(USH2A):c.5485C>T (p.Gln1829Ter) rs2102554289
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr) rs755032078
NM_206933.4(USH2A):c.5512dup (p.Tyr1838fs) rs2031815415
NM_206933.4(USH2A):c.5528C>T (p.Pro1843Leu) rs200209833
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter) rs761075303
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs) rs2102554196
NM_206933.4(USH2A):c.5552delinsTT (p.Gln1851fs)
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
NM_206933.4(USH2A):c.5573-2A>G rs1045789152
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.4(USH2A):c.5614_5615insTAACTTGGCAT (p.Ala1872fs) rs2031623445
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.5635del (p.Val1879fs)
NM_206933.4(USH2A):c.563A>C (p.Tyr188Ser) rs2102783934
NM_206933.4(USH2A):c.563A>G (p.Tyr188Cys)
NM_206933.4(USH2A):c.5678C>A (p.Ser1893Ter)
NM_206933.4(USH2A):c.5678C>G (p.Ser1893Ter) rs2031620246
NM_206933.4(USH2A):c.5719del (p.Leu1907fs)
NM_206933.4(USH2A):c.5735_5736del (p.Lys1912fs)
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter) rs762837293
NM_206933.4(USH2A):c.5751C>A (p.Tyr1917Ter) rs145742052
NM_206933.4(USH2A):c.5751C>G (p.Tyr1917Ter) rs145742052
NM_206933.4(USH2A):c.5752G>T (p.Glu1918Ter) rs529355834
NM_206933.4(USH2A):c.5764C>T (p.Gln1922Ter) rs1571936130
NM_206933.4(USH2A):c.5776+2T>G rs866978361
NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys)
NM_206933.4(USH2A):c.5777-1G>A
NM_206933.4(USH2A):c.5781C>A (p.Tyr1927Ter) rs760845108
NM_206933.4(USH2A):c.5781C>G (p.Tyr1927Ter)
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5818del (p.Val1940fs) rs2102548644
NM_206933.4(USH2A):c.5832dup (p.Ser1945fs) rs2102548612
NM_206933.4(USH2A):c.5835_5836dup (p.Arg1946fs) rs1221017154
NM_206933.4(USH2A):c.5857+1G>C rs2031604509
NM_206933.4(USH2A):c.5857+1del
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5870_5871del (p.Val1957fs)
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.5933del (p.Pro1978fs)
NM_206933.4(USH2A):c.5945dup (p.Val1983fs)
NM_206933.4(USH2A):c.5961C>A (p.Tyr1987Ter) rs773927620
NM_206933.4(USH2A):c.5983dup (p.Asp1995fs) rs2102546096
NM_206933.4(USH2A):c.6029del (p.Val2010fs)
NM_206933.4(USH2A):c.6050-2A>G rs772124060
NM_206933.4(USH2A):c.612dup (p.Arg205fs) rs2039614529
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) rs1209837469
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
NM_206933.4(USH2A):c.6195del (p.Lys2065fs)
NM_206933.4(USH2A):c.6211_6212dup (p.Leu2071fs) rs2102524917
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys) rs1553294134
NM_206933.4(USH2A):c.6234del (p.Lys2080fs) rs2030528716
NM_206933.4(USH2A):c.6239del (p.Lys2080fs) rs1558229491
NM_206933.4(USH2A):c.6239dup (p.Ala2081fs)
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6325+1G>A rs1293202153
NM_206933.4(USH2A):c.6349C>T (p.Gln2117Ter)
NM_206933.4(USH2A):c.6363_6364del (p.Ala2122fs)
NM_206933.4(USH2A):c.6369C>A (p.Cys2123Ter)
NM_206933.4(USH2A):c.6382T>C (p.Cys2128Arg)
NM_206933.4(USH2A):c.6394del (p.Ser2132fs) rs1668243665
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016
NM_206933.4(USH2A):c.6451del (p.Val2150_Leu2151insTer) rs2102483177
NM_206933.4(USH2A):c.6485+5G>A rs1668240410
NM_206933.4(USH2A):c.6488G>A (p.Trp2163Ter)
NM_206933.4(USH2A):c.649C>T (p.Gln217Ter)
NM_206933.4(USH2A):c.651+1G>A rs1553257761
NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)
NM_206933.4(USH2A):c.6524_6525del (p.Arg2175fs)
NM_206933.4(USH2A):c.6570G>A (p.Trp2190Ter) rs2102481922
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.6642T>A (p.Tyr2214Ter)
NM_206933.4(USH2A):c.6657+1G>A rs1571876788
NM_206933.4(USH2A):c.6657+2T>G rs2102481774
NM_206933.4(USH2A):c.6705_6708del (p.Asp2237fs)
NM_206933.4(USH2A):c.6706del (p.Thr2236fs)
NM_206933.4(USH2A):c.6712_6722del (p.Glu2238fs)
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.6752C>G (p.Ser2251Ter)
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
NM_206933.4(USH2A):c.6782G>A (p.Trp2261Ter) rs2102476647
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.4(USH2A):c.6805+1G>T rs1553285919
NM_206933.4(USH2A):c.6859_6860dup (p.Glu2288fs)
NM_206933.4(USH2A):c.6903del (p.Leu2301fs)
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs) rs1667472317
NM_206933.4(USH2A):c.6905del (p.His2302fs) rs2102458388
NM_206933.4(USH2A):c.6925T>C (p.Cys2309Arg)
NM_206933.4(USH2A):c.6931del (p.Ala2311fs) rs1667471296
NM_206933.4(USH2A):c.698del (p.Asp233fs)
NM_206933.4(USH2A):c.69del (p.Tyr24fs) rs2102789194
NM_206933.4(USH2A):c.7023dup (p.Ser2342fs) rs1667317168
NM_206933.4(USH2A):c.7034_7035insTT (p.His2346fs)
NM_206933.4(USH2A):c.7049_7053del (p.Glu2350fs)
NM_206933.4(USH2A):c.7059del (p.Arg2354fs)
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs) rs1667314337
NM_206933.4(USH2A):c.7076T>A (p.Leu2359Ter)
NM_206933.4(USH2A):c.7077_7078del (p.Leu2359fs)
NM_206933.4(USH2A):c.7118del (p.Pro2373fs) rs2102453751
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs) rs1553277866
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter) rs376983577
NM_206933.4(USH2A):c.7174G>T (p.Glu2392Ter) rs1192539262
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs) rs2102499717
NM_206933.4(USH2A):c.7188G>A (p.Trp2396Ter)
NM_206933.4(USH2A):c.7216del (p.Thr2406fs) rs2102499681
NM_206933.4(USH2A):c.7231C>T (p.Gln2411Ter) rs755693369
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.4(USH2A):c.725dup (p.Ser243fs) rs1195779037
NM_206933.4(USH2A):c.7300+1G>T
NM_206933.4(USH2A):c.7301-2A>C
NM_206933.4(USH2A):c.7305dup (p.Asp2436fs)
NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)
NM_206933.4(USH2A):c.738dup (p.Thr247fs)
NM_206933.4(USH2A):c.7414C>T (p.Gln2472Ter) rs2102470145
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter) rs2102469649
NM_206933.4(USH2A):c.7468del (p.Ser2490fs) rs1665453379
NM_206933.4(USH2A):c.747del (p.Phe249fs)
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.4(USH2A):c.7569G>A (p.Trp2523Ter) rs2102469493
NM_206933.4(USH2A):c.7594A>T (p.Lys2532Ter) rs2102469461
NM_206933.4(USH2A):c.7605del (p.Pro2535_Val2536insTer)
NM_206933.4(USH2A):c.7620del (p.Leu2541fs) rs1553273412
NM_206933.4(USH2A):c.7633A>T (p.Lys2545Ter) rs774559456
NM_206933.4(USH2A):c.7637C>A (p.Ser2546Ter)
NM_206933.4(USH2A):c.7637del (p.Lys2545_Ser2546insTer)
NM_206933.4(USH2A):c.763C>T (p.Gln255Ter)
NM_206933.4(USH2A):c.775_776del (p.Ser259fs) rs2038566220
NM_206933.4(USH2A):c.7788_7799delinsA (p.Tyr2596_Val2600delinsTer)
NM_206933.4(USH2A):c.7818del (p.Gly2607fs)
NM_206933.4(USH2A):c.7831del (p.Ser2611fs) rs1665136420
NM_206933.4(USH2A):c.7862del (p.Pro2621fs) rs2102460381
NM_206933.4(USH2A):c.7863del (p.Ala2623fs) rs2102460377
NM_206933.4(USH2A):c.7873G>T (p.Glu2625Ter) rs1259115799
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.792_795del (p.Glu264fs)
NM_206933.4(USH2A):c.7931G>A (p.Trp2644Ter)
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.7933C>T (p.Gln2645Ter)
NM_206933.4(USH2A):c.7940del (p.Pro2647fs) rs1665132445
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.7977del (p.Ile2659fs) rs2102460222
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter) rs2102460193
NM_206933.4(USH2A):c.802G>C (p.Gly268Arg)
NM_206933.4(USH2A):c.803del (p.Gly268fs) rs2037761776
NM_206933.4(USH2A):c.805A>T (p.Arg269Ter)
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter) rs775921966
NM_206933.4(USH2A):c.8088T>A (p.Tyr2696Ter)
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243
NM_206933.4(USH2A):c.8094T>G (p.Tyr2698Ter)
NM_206933.4(USH2A):c.8098del (p.Val2700fs)
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs) rs768367348
NM_206933.4(USH2A):c.8143dup (p.Val2715fs) rs760455927
NM_206933.4(USH2A):c.815del (p.Asp272fs) rs2102658827
NM_206933.4(USH2A):c.8190_8193dup (p.Val2732fs)
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.8224-1G>A
NM_206933.4(USH2A):c.8224-1G>C rs1664846558
NM_206933.4(USH2A):c.8224-1G>T
NM_206933.4(USH2A):c.8231G>A (p.Trp2744Ter) rs1664846292
NM_206933.4(USH2A):c.8232G>T (p.Trp2744Cys)
NM_206933.4(USH2A):c.8232del (p.Thr2743_Trp2744insTer) rs1664846221
NM_206933.4(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.4(USH2A):c.828C>A (p.Tyr276Ter)
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.8312del (p.Val2771fs)
NM_206933.4(USH2A):c.8327T>G (p.Leu2776Ter)
NM_206933.4(USH2A):c.8328_8329del (p.Gln2778fs)
NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter) rs1664842535
NM_206933.4(USH2A):c.8389dup (p.Ser2797fs)
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) rs2037760521
NM_206933.4(USH2A):c.8407del (p.Gly2804fs)
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) rs2037760415
NM_206933.4(USH2A):c.8435_8438del (p.Thr2812fs) rs1664838877
NM_206933.4(USH2A):c.8442dup (p.Thr2815fs) rs2102451706
NM_206933.4(USH2A):c.8457del (p.Val2820fs)
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) rs2102451648
NM_206933.4(USH2A):c.8482del (p.Ser2828fs) rs2102451639
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.852_853del rs1188025733
NM_206933.4(USH2A):c.8559-1G>T rs1664816177
NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter) rs748863844
NM_206933.4(USH2A):c.8585del (p.Gln2862fs)
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter) rs2102450764
NM_206933.4(USH2A):c.8628G>A (p.Trp2876Ter) rs1180119632
NM_206933.4(USH2A):c.8642C>G (p.Ser2881Ter) rs2102450707
NM_206933.4(USH2A):c.8661T>G (p.Tyr2887Ter) rs2102450680
NM_206933.4(USH2A):c.8681+1G>C
NM_206933.4(USH2A):c.8681+1G>T rs876657733
NM_206933.4(USH2A):c.8681+2T>C rs2102450642
NM_206933.4(USH2A):c.8682-1G>A rs1553271001
NM_206933.4(USH2A):c.871G>T (p.Gly291Ter) rs2102656270
NM_206933.4(USH2A):c.8862del (p.Gly2955fs) rs2102823350
NM_206933.4(USH2A):c.8883_8886del (p.Leu2962fs) rs2102823316
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.8932_8933insSVAelement
NM_206933.4(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_206933.4(USH2A):c.8963del (p.Lys2988fs)
NM_206933.4(USH2A):c.8972_8973del (p.Thr2991fs)
NM_206933.4(USH2A):c.8988_8989insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTATTGGATCTTT (p.Ile2997delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2102823179
NM_206933.4(USH2A):c.8993_8994del (p.Ser2998fs) rs2102823161
NM_206933.4(USH2A):c.9055+1del rs1553268563
NM_206933.4(USH2A):c.9106_9110del (p.Val3036fs)
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.9165_9168del (p.Ile3055fs) rs2102821808
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs) rs1553268434
NM_206933.4(USH2A):c.9239del (p.Phe3080fs) rs2102821722
NM_206933.4(USH2A):c.9249T>A (p.Tyr3083Ter)
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9285C>A (p.Cys3095Ter)
NM_206933.4(USH2A):c.9298G>T (p.Gly3100Ter)
NM_206933.4(USH2A):c.9307del (p.Ile3103fs) rs1558121260
NM_206933.4(USH2A):c.9312del (p.Thr3105fs) rs2102816598
NM_206933.4(USH2A):c.9319G>T (p.Glu3107Ter)
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9353_9354del (p.Ile3118fs)
NM_206933.4(USH2A):c.9371+1G>A rs41308425
NM_206933.4(USH2A):c.9371+1G>T
NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)
NM_206933.4(USH2A):c.9388T>G (p.Trp3130Gly)
NM_206933.4(USH2A):c.9390G>A (p.Trp3130Ter) rs886042766
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) rs2102796558
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter) rs1662880811
NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter) rs1662880750
NM_206933.4(USH2A):c.9449G>A (p.Trp3150Ter)
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9466del (p.Thr3156fs)
NM_206933.4(USH2A):c.946C>T (p.Gln316Ter)
NM_206933.4(USH2A):c.9473del (p.Lys3158fs) rs2102796411
NM_206933.4(USH2A):c.9487C>T (p.Gln3163Ter) rs188988614
NM_206933.4(USH2A):c.9488del (p.Gln3163fs) rs2102796387
NM_206933.4(USH2A):c.9495dup (p.Glu3166Ter) rs2102796376
NM_206933.4(USH2A):c.9504C>A (p.Cys3168Ter) rs2102796365
NM_206933.4(USH2A):c.9518_9519del (p.Cys3173fs)
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer) rs2102796345
NM_206933.4(USH2A):c.9538del (p.Cys3180fs) rs36108227
NM_206933.4(USH2A):c.9552C>A (p.Cys3184Ter)
NM_206933.4(USH2A):c.9556del (p.Ser3186fs)
NM_206933.4(USH2A):c.9570+1G>T
NM_206933.4(USH2A):c.9570+1_9570+5del
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs) rs2102793202
NM_206933.4(USH2A):c.9625G>T (p.Glu3209Ter)
NM_206933.4(USH2A):c.9638del (p.Pro3213fs) rs1662774674
NM_206933.4(USH2A):c.9642dup (p.Val3215fs)
NM_206933.4(USH2A):c.9669T>A (p.Cys3223Ter)
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter) rs1662772955
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) rs1662771528
NM_206933.4(USH2A):c.9723C>G (p.Tyr3241Ter) rs6660707
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter) rs1662226257
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del) rs1246009294
NM_206933.4(USH2A):c.9811del (p.Met3271fs) rs767328784
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.9833del (p.Asn3278fs)
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter) rs2102778615
NM_206933.4(USH2A):c.987_988insTAA (p.Asn330Ter) rs2102655994
NM_206933.4(USH2A):c.987dup (p.Asn330Ter)
NM_206933.4(USH2A):c.9881_9882insT (p.Cys3295fs) rs2102778595
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp) rs780036975
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter) rs2039690812
NM_206933.4(USH2A):c.990dup (p.Arg331Ter)
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.9959-1G>C
NM_206933.4(USH2A):c.9959-4159A>G rs1662067653
NM_206933.4(USH2A):c.9967del (p.Cys3323fs)
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770

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