ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1011
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_022124.6(CDH23):c.2587+35C>T rs186492861 0.00026
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 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_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) rs757163581 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
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.1A>G (p.Met1Val) rs924627806 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met) rs147267500 0.00005
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 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.13342_13347del (p.Asp4448_Ser4449del) rs771903291 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.908G>A (p.Arg303His) rs371777049 0.00004
NM_000260.4(MYO7A):c.2905-1G>A rs1171417339 0.00003
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) rs979094623 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) rs369793306 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.15297+1G>C rs767630412 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.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 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_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp) rs866352637 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu) rs377581131 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.248+1G>A rs1482487617 0.00002
NM_173477.5(USH1G):c.46C>G (p.Leu16Val) rs876657419 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.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 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.15017C>T (p.Thr5006Met) rs757676723 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.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.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909 0.00001
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter) rs1461201353 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.285+1G>C rs782661097 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148 0.00001
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110 0.00001
NM_000260.4(MYO7A):c.4569-1G>A rs775792432 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter) rs1407313220 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718 0.00001
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286 0.00001
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037 0.00001
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250 0.00001
NM_000260.4(MYO7A):c.849+5G>A rs1060499716 0.00001
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3807-2A>G rs1328440878 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) rs759468416 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.4206+1G>A rs1204500829 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_032119.4(ADGRV1):c.14972+1G>T rs780011571 0.00001
NM_032119.4(ADGRV1):c.9749-2del rs1751549898 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2281-2A>G rs921755529 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703 0.00001
NM_153676.4(USH1C):c.877-1G>A rs771279169 0.00001
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) rs1380661508 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.11189A>G (p.Glu3730Gly) rs1341032857 0.00001
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256 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.12151G>T (p.Glu4051Ter) rs1262416703 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 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.13811+1G>A rs1177257719 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.14791+5G>T rs1235430504 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs) rs1295968274 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.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 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.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.6050-1G>A rs1035024403 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.7300+1G>C rs1343780391 0.00001
NM_206933.4(USH2A):c.7301-1G>A rs1438496892 0.00001
NM_206933.4(USH2A):c.7594+2del rs762608746 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.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 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.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr) rs983763783 0.00001
NM_206933.4(USH2A):c.9959-1G>A rs970237364 0.00001
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000001.11:g.(?_216108034)_(216108100_?)del
NC_000001.11:g.(?_216462679)_(216462739_?)del
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
NC_000010.10:g.(73454017_73455174)_73468962del
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
NC_000010.11:g.(?_71645831)_(71646617_?)del
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) rs1555051390
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter) rs1951307710
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs) rs1591286221
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter) rs1951308166
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter) rs1953058015
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter) rs1953066164
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.1804del (p.Glu602fs) rs2135406368
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter) rs1954237712
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter) rs1954248090
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter) rs1954250327
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter) rs1954477050
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) rs1555078942
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)
NM_000260.4(MYO7A):c.2116del (p.Gln706fs)
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)
NM_000260.4(MYO7A):c.2355del (p.Asn786fs) rs1591369118
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter) rs1555082575
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)
NM_000260.4(MYO7A):c.2441del (p.Arg814fs)
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter) rs1955017383
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter) rs1407246264
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)
NM_000260.4(MYO7A):c.2648del (p.Glu883fs)
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)
NM_000260.4(MYO7A):c.2779del (p.Glu927fs)
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter) rs1955177223
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter) rs1955180601
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) rs1296612982
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter) rs1955281533
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter) rs1955333327
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter) rs1307924861
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter) rs1555051419
NM_000260.4(MYO7A):c.3504-1G>A
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter) rs1956130442
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter) rs1956149175
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) rs2135577456
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter) rs1956480240
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter) rs1956485578
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter) rs1956496669
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter) rs1956761177
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter) rs1956761416
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter) rs1956843097
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.471-2A>C
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter) rs1181067492
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.4852+2T>C rs2135682219
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) rs1591467918
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) rs782347270
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter) rs1591474980
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter) rs768418736
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter) rs1957393464
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter) rs1957431273
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter) rs1406392019
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter) rs1957520697
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter) rs1957642707
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter) rs186644871
NM_000260.4(MYO7A):c.602del (p.Asn201fs)
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro) rs770778096
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter) rs1957842461
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter) rs530700420
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter) rs1957851234
NM_000260.4(MYO7A):c.6238-1G>C rs1957902751
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter) rs1957904821
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter) rs1957904821
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter) rs1952532000
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys) rs2135244325
NM_000260.4(MYO7A):c.767del (p.Tyr256fs)
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter) rs1555064033
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter) rs2135244869
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)
NM_000260.4(MYO7A):c.83_84del (p.Val28fs)
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter) rs1952585733
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter) rs1952682554
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter) rs782747153
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_001142763.1:c.-189197_c.610-5166del
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001267727.2(ARSG):c.982+1G>C
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
NM_001384140.1(PCDH15):c.1305+1G>A rs758947077
NM_001384140.1(PCDH15):c.1305+1G>C rs758947077
NM_001384140.1(PCDH15):c.1305+1del rs1554833699
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
NM_001384140.1(PCDH15):c.1440+2T>C rs1363688830
NM_001384140.1(PCDH15):c.1441-2A>C rs758482449
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
NM_001384140.1(PCDH15):c.157+1G>C rs1057516770
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer) rs1554816541
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.1785-2A>C rs1057516474
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1917+2T>C rs1554806149
NM_001384140.1(PCDH15):c.1997+1G>T rs763797356
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_001384140.1(PCDH15):c.2091+2T>C rs1554956023
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
NM_001384140.1(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_001384140.1(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3122+2T>A rs1554882546
NM_001384140.1(PCDH15):c.3123-1G>A rs1554873550
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3233-2A>G rs1554872194
NM_001384140.1(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_001384140.1(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_001384140.1(PCDH15):c.3374-1G>T rs1554852472
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs) rs2133664431
NM_001384140.1(PCDH15):c.3501+1G>T rs1402893508
NM_001384140.1(PCDH15):c.3502-2A>G rs1554836566
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_001384140.1(PCDH15):c.3806+1G>C rs1554833227
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
NM_001384140.1(PCDH15):c.3984-1G>C rs1057520709
NM_001384140.1(PCDH15):c.3984-2A>G rs1554824185
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_001384140.1(PCDH15):c.4211+1G>A rs1554823229
NM_001384140.1(PCDH15):c.4211+1del rs1554823231
NM_001384140.1(PCDH15):c.4211+2dup rs1057517419
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4367+2T>C rs1554822703
NM_001384140.1(PCDH15):c.475-2204_594+1766del
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.594+1G>T rs1057516470
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_001384140.1(PCDH15):c.705+1G>A rs1554903842
NM_001384140.1(PCDH15):c.705+5G>A
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_001384140.1(PCDH15):c.876+1G>C rs2133646979
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del) rs756193571
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)
NM_015404.4(WHRN):c.375del (p.Ala126fs) rs751838091
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.3220+1G>A rs1487026359
NM_022124.6(CDH23):c.3431-1G>A rs2132804878
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met) rs377358096
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.5067+1G>A
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.5369-1G>A rs1564791773
NM_022124.6(CDH23):c.5924-1G>A rs1841212177
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs) rs2132953243
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs) rs2132953252
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) rs2132954257
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.7225-1G>A rs1064795722
NM_022124.6(CDH23):c.7978del (p.Asp2660fs) rs2132983724
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8064+1G>A rs1474524543
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9278+2T>A
NM_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.10974+1G>A rs1754560628
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs) rs2150063224
NM_032119.4(ADGRV1):c.1239-8C>G rs869312178
NM_032119.4(ADGRV1):c.12403+1G>T rs527236132
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) rs1758488956
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) rs1057519383
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter) rs1561740143
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) rs1554117973
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) rs527236131
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) rs1561790371
NM_032119.4(ADGRV1):c.16196+1G>T rs1326895760
NM_032119.4(ADGRV1):c.16197-1G>T rs1561805689
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) rs1764301206
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs) rs1766797963
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) rs1580567084
NM_032119.4(ADGRV1):c.2898+2T>C
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter) rs2149468550
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_032119.4(ADGRV1):c.4752+2T>G rs774386059
NM_032119.4(ADGRV1):c.5665-231C>T
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs) rs1554081619
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter) rs1053590019
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs) rs2149642220
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) rs1554090072
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs) rs2149715612
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) rs1580845586
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_145200.5(CABP4):c.626G>T (p.Arg209Leu) rs552701854
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.104+2T>C
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
NM_153676.4(USH1C):c.387+1G>A
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs) rs761465345
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
NM_173477.5(USH1G):c.1004dup (p.Leu336fs) rs1359109336
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173477.5(USH1G):c.1382+2_1382+3del
NM_173477.5(USH1G):c.164+5G>A rs1337840598
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) rs928656346
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter) rs1226851798
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) rs544952984
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) rs1715589813
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.372del (p.Phe124fs) rs1553772595
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_174878.3(CLRN1):c.433+2dup rs1057516687
NM_174878.3(CLRN1):c.434G>T (p.Gly145Val) rs765085056
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) rs201625237
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp) rs775098953
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg) rs2107927490
NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter) rs1403618793
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)
NM_206933.4(USH2A):c.10179del (p.Met3393fs) rs1553262411
NM_206933.4(USH2A):c.10183-1375_10387+1389del
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs) rs1553261898
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
NM_206933.4(USH2A):c.10585+1G>A rs2102763351
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs) rs1553261387
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs) rs1553261118
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11231+1G>A rs111033382
NM_206933.4(USH2A):c.11231+1G>T rs111033382
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs) rs1553259060
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.4(USH2A):c.11389+1del rs1414935620
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.4(USH2A):c.11549del rs1660304704
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)
NM_206933.4(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.4(USH2A):c.11703del (p.Phe3901fs) rs1553257497
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
NM_206933.4(USH2A):c.11712-2A>C rs753505333
NM_206933.4(USH2A):c.11712-2A>G rs753505333
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs) rs1553256587
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs) rs1553256576
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12294+1G>C rs111033526
NM_206933.4(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs) rs1553252469
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter) rs1163061829
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs) rs1553252409
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs) rs1553252389
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer) rs1553252363
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs) rs1657920193
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly) rs553956503
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) rs1571947757
NM_206933.4(USH2A):c.13811+2T>C rs766515318
NM_206933.4(USH2A):c.13812-1G>A rs199782530
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
NM_206933.4(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs) rs2102661317
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
NM_206933.4(USH2A):c.14344-1G>A rs919142559
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
NM_206933.4(USH2A):c.14679del (p.Ala4894fs) rs1553250077
NM_206933.4(USH2A):c.14747del (p.Gly4916fs) rs2102642087
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.14791+2T>A rs1553250050
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs) rs2102636006
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs) rs781625683
NM_206933.4(USH2A):c.14969-1G>A rs1553249311
NM_206933.4(USH2A):c.14969-2A>G rs2102634730
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.4(USH2A):c.15052+1G>A rs1553249290
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) rs1571701072
NM_206933.4(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) rs1656163649
NM_206933.4(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.1659del (p.Leu553fs)
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro) rs777701725
NM_206933.4(USH2A):c.1888del (p.Ala630fs) rs2102606427
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser) rs1487450999
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly) rs2102788868
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu) rs45555435
NM_206933.4(USH2A):c.2168-1G>T
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter) rs1438734382
NM_206933.4(USH2A):c.2809+1G>C rs759433119
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
NM_206933.4(USH2A):c.2994-2A>G rs1553316430
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe) rs2102496508
NM_206933.4(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
NM_206933.4(USH2A):c.3158-1G>T
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3317-1G>A rs1553313909
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs) rs1553313844
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
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.3623G>A (p.Trp1208Ter)
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs) rs1553313793
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
NM_206933.4(USH2A):c.3812-3_3837dup rs780071028
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3891del (p.Gln1298fs) rs1553313551
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
NM_206933.4(USH2A):c.4081+2T>C rs1553313505
NM_206933.4(USH2A):c.4082-2A>G rs1553313340
NM_206933.4(USH2A):c.4087del (p.Val1363fs) rs2102460761
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
NM_206933.4(USH2A):c.4251+1del rs2102460236
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter) rs746900872
NM_206933.4(USH2A):c.486-2A>C
NM_206933.4(USH2A):c.4886-1G>A rs1553300340
NM_206933.4(USH2A):c.4988-2A>G rs143521854
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
NM_206933.4(USH2A):c.5167+1G>T rs794727408
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro) rs2102559645
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs) rs1553299046
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs) rs1553299022
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter) rs763831329
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs) rs1553297684
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
NM_206933.4(USH2A):c.6050-2A>G rs772124060
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) rs1209837469
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6163+1G>A rs2030617696
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs) rs1553294144
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.4(USH2A):c.6326-10882_6326-10769del rs2102492616
NM_206933.4(USH2A):c.6326-2A>G rs1553287118
NM_206933.4(USH2A):c.6326-3_6332del rs1553287116
NM_206933.4(USH2A):c.6354del (p.Leu2119fs) rs2102483305
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.647T>G (p.Val216Gly) rs1571801514
NM_206933.4(USH2A):c.6485+1G>A rs1553287070
NM_206933.4(USH2A):c.651+1G>A rs1553257761
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs) rs1553285970
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs) rs1553285944
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
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.6810del (p.Ile2271fs) rs1553282707
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs) rs1553282698
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.6957+1G>C rs2102458321
NM_206933.4(USH2A):c.698del (p.Asp233fs)
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs) rs1667314337
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs) rs1553281890
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs) rs1553277866
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs) rs2102499717
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.4(USH2A):c.7531del (p.Val2511fs) rs1553274435
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter) rs1553274424
NM_206933.4(USH2A):c.7595-1G>A rs1553273421
NM_206933.4(USH2A):c.7595-1G>T rs1553273421
NM_206933.4(USH2A):c.7595-2A>G rs1064795047
NM_206933.4(USH2A):c.7620del (p.Leu2541fs) rs1553273412
NM_206933.4(USH2A):c.7862del (p.Pro2621fs) rs2102460381
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
NM_206933.4(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.4(USH2A):c.8266del (p.Ser2756fs) rs1558141330
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) rs2037760521
NM_206933.4(USH2A):c.8391del (p.Gly2799fs) rs1553272176
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) rs2037760415
NM_206933.4(USH2A):c.848+2T>C rs2102658759
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) rs2102451648
NM_206933.4(USH2A):c.849-2A>G rs2102656326
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs) rs1553272035
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
NM_206933.4(USH2A):c.8682-1G>A rs1553271001
NM_206933.4(USH2A):c.8682-2A>C rs1553271002
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg) rs1571762632
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter) rs1553270960
NM_206933.4(USH2A):c.8845+1G>A rs1553270954
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.8846-2A>G rs1553268594
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.9055+1G>A rs1553268562
NM_206933.4(USH2A):c.9055+1del rs1553268563
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.9191del (p.Thr3064fs) rs1553268435
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs) rs1553268434
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)
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.9453T>A (p.Tyr3151Ter) rs1553265829
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer) rs2102796345
NM_206933.4(USH2A):c.956del (p.Cys319fs)
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
NM_206933.4(USH2A):c.9739+1G>C rs2102792994
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp) rs780036975
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)
NP_005700.2(USH1C):p.Arg357Trp
Single allele

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