ClinVar Miner

List of variants reported as likely pathogenic for Retinal dystrophy

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ClinVar version:
Total variants: 1336
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655 0.00126
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_000541.5(SAG):c.182-2A>G rs201086679 0.00051
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_033100.4(CDHR1):c.55+1G>A rs547198427 0.00036
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205 0.00035
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_001004334.4(GPR179):c.4699_4700del (p.Ser1567fs) rs369324783 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_015072.5(TTLL5):c.3508C>T (p.Arg1170Ter) rs769845921 0.00008
NM_201548.5(CERKL):c.193G>T (p.Glu65Ter) rs201186440 0.00008
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) rs201870277 0.00007
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000350.3(ABCA4):c.302+1G>A rs61751413 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_012106.4(ARL2BP):c.207+1G>A rs199830550 0.00005
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430 0.00004
NM_000539.3(RHO):c.745G>T (p.Glu249Ter) rs104893783 0.00004
NM_001142800.2(EYS):c.220del (p.Val74fs) rs1375767063 0.00004
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00004
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter) rs746499646 0.00004
NM_001379270.1(CNGA1):c.105C>A (p.Cys35Ter) rs1237954156 0.00004
NM_006214.4(PHYH):c.497-2A>G rs144169488 0.00004
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg) rs544807110 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln) rs765914942 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_178857.6(RP1L1):c.1451del (p.Ser484fs) rs749460193 0.00004
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) rs121965057 0.00003
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr) rs138965708 0.00003
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=) rs751844313 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_004928.3(CFAP410):c.493del (p.Ser165fs) rs752395624 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) rs104894492 0.00003
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093 0.00003
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) rs776024427 0.00003
NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter) rs764109533 0.00003
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys) rs755588045 0.00003
NM_022124.6(CDH23):c.5187+1G>A rs1280991447 0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) rs140257538 0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) rs397517930 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) rs754564043 0.00003
NM_206933.4(USH2A):c.15297+1G>C rs767630412 0.00003
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000283.4(PDE6B):c.992+1G>A rs898144119 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys) rs61748547 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.4880del (p.Leu1627fs) rs763911476 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_001242957.3(MAK):c.1356_1357del (p.Glu454fs) rs762837543 0.00002
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile) rs774229391 0.00002
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) rs1377555853 0.00002
NM_003322.6(TULP1):c.1153G>A (p.Gly385Arg) rs766181526 0.00002
NM_004183.4(BEST1):c.1550C>G (p.Ser517Ter) rs762398929 0.00002
NM_004183.4(BEST1):c.1740-2A>G rs1190983296 0.00002
NM_004928.3(CFAP410):c.96+6T>A rs758835278 0.00002
NM_005869.4(CWC27):c.1156dup (p.Leu386fs) rs1372091680 0.00002
NM_006017.3(PROM1):c.1238T>A (p.Val413Asp) rs563415711 0.00002
NM_006017.3(PROM1):c.303+1G>A rs777673930 0.00002
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_016247.4(IMPG2):c.667-1G>A rs1334444660 0.00002
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter) rs775124094 0.00002
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) rs758951947 0.00002
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) rs781192528 0.00002
NM_144499.3(GNAT1):c.282del (p.Ala95fs) rs778059585 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_177972.3(TUB):c.1387+1G>A rs1040410003 0.00002
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) rs267598278 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 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.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.1644+1G>A rs912980910 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn) rs766646217 0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) rs1064794012 0.00001
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met) rs761619791 0.00001
NM_000283.4(PDE6B):c.181G>T (p.Glu61Ter) rs767438881 0.00001
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu) rs751413984 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000283.4(PDE6B):c.837del (p.Asp279fs) rs746141070 0.00001
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) rs779414078 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) rs61755766 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His) rs374224955 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg) rs61749448 0.00001
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) rs61748530 0.00001
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.3329-1G>A rs544428779 0.00001
NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro) rs1287053724 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4312C>G (p.Pro1438Ala) rs1046550021 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) rs1385119665 0.00001
NM_000350.3(ABCA4):c.4715_4718dup (p.Glu1574fs) rs1340989734 0.00001
NM_000350.3(ABCA4):c.4848+1G>A rs1659900228 0.00001
NM_000350.3(ABCA4):c.5018+5G>A rs1553188588 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter) rs61750573 0.00001
NM_000350.3(ABCA4):c.5460+1G>T rs61753030 0.00001
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148 0.00001
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu) rs62642579 0.00001
NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly) rs757449019 0.00001
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213 0.00001
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys) rs61750652 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00001
NM_000440.3(PDE6A):c.1407+1G>C rs781616522 0.00001
NM_000440.3(PDE6A):c.1620+1G>A rs781377291 0.00001
NM_000440.3(PDE6A):c.1620+2T>A rs1383907349 0.00001
NM_000539.3(RHO):c.325G>A (p.Gly109Arg) rs1415160298 0.00001
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) rs749738655 0.00001
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs) rs1569237670 0.00001
NM_001042472.3(ABHD12):c.755C>T (p.Ala252Val) rs1300228825 0.00001
NM_001122769.3(LCA5):c.661T>G (p.Leu221Val) rs750639988 0.00001
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter) rs1295206142 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter) rs1245121527 0.00001
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter) rs1389794536 0.00001
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter) rs1245304444 0.00001
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter) rs909730457 0.00001
NM_001142800.2(EYS):c.7578+1G>A rs1228475082 0.00001
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter) rs1197863938 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001242957.3(MAK):c.553G>A (p.Ala185Thr) rs527236080 0.00001
NM_001242957.3(MAK):c.718_719del (p.Gln240fs) rs1039053911 0.00001
NM_001252024.2(TRPM1):c.580G>T (p.Gly194Cys) rs2034398158 0.00001
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys) rs1557106557 0.00001
NM_001256789.3(CACNA1F):c.4008+1G>A rs782557600 0.00001
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958 0.00001
NM_001330691.3(CEP78):c.1417G>T (p.Glu473Ter) rs1363359148 0.00001
NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp) rs1042726781 0.00001
NM_001330691.3(CEP78):c.76C>T (p.Gln26Ter) rs776271026 0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter) rs1674967197 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001379270.1(CNGA1):c.1688del (p.Ser563fs) rs1738673948 0.00001
NM_001379500.1(COL18A1):c.1897-2A>G rs778612831 0.00001
NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) rs713993047 0.00001
NM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter) rs781881541 0.00001
NM_002905.5(RDH5):c.355G>A (p.Gly119Arg) rs778777287 0.00001
NM_003322.6(TULP1):c.100C>T (p.Arg34Ter) rs1331834680 0.00001
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter) rs751589956 0.00001
NM_003322.6(TULP1):c.971A>C (p.Tyr324Ser) rs749776323 0.00001
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu) rs980876322 0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209 0.00001
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser) rs281865236 0.00001
NM_004183.4(BEST1):c.449G>C (p.Arg150Pro) rs1249897117 0.00001
NM_004183.4(BEST1):c.5C>G (p.Thr2Ser) rs1209208472 0.00001
NM_004727.3(SLC24A1):c.680del (p.Ala227fs) rs2074443699 0.00001
NM_004928.3(CFAP410):c.137C>T (p.Thr46Met) rs763821454 0.00001
NM_006017.3(PROM1):c.1002+5G>A rs1196489060 0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 0.00001
NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter) rs761152494 0.00001
NM_006017.3(PROM1):c.1579-2A>C rs1472802723 0.00001
NM_006017.3(PROM1):c.2077-521A>G rs796051882 0.00001
NM_006204.4(PDE6C):c.2425del (p.Arg809fs) rs2058673701 0.00001
NM_006343.3(MERTK):c.1650del (p.Ile550fs) rs1252719064 0.00001
NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter) rs774755041 0.00001
NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys) rs757858711 0.00001
NM_012338.4(TSPAN12):c.460del (p.Gln154fs) rs1793956441 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) rs770890983 0.00001
NM_014714.4(IFT140):c.4040+1G>A rs748523056 0.00001
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_015072.5(TTLL5):c.1408C>T (p.Arg470Ter) rs766173950 0.00001
NM_015072.5(TTLL5):c.1654C>T (p.Arg552Ter) rs779740894 0.00001
NM_015102.5(NPHP4):c.2444dup (p.Val816fs) rs1643875847 0.00001
NM_015629.4(PRPF31):c.837C>T (p.Ile279=) rs1374316824 0.00001
NM_016247.4(IMPG2):c.1739T>G (p.Leu580Ter) rs770399625 0.00001
NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer) rs771980888 0.00001
NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter) rs878853357 0.00001
NM_016247.4(IMPG2):c.826G>T (p.Glu276Ter) rs746003280 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter) rs769742202 0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) rs751644763 0.00001
NM_024685.4(BBS10):c.206T>A (p.Val69Glu) rs1176176320 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) rs370581600 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter) rs778188580 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs) rs2065896039 0.00001
NM_033100.4(CDHR1):c.954_958del (p.His319fs) rs760608593 0.00001
NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter) rs778977288 0.00001
NM_133497.4(KCNV2):c.643A>T (p.Lys215Ter) rs763785730 0.00001
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) rs761991624 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152443.3(RDH12):c.210dup (p.Arg71fs) rs797044761 0.00001
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile) rs200302290 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter) rs763759470 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter) rs1426006136 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_201548.5(CERKL):c.1566T>G (p.Tyr522Ter) rs1278226911 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_206933.4(USH2A):c.11585C>G (p.Thr3862Arg) rs886044126 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp) rs755480221 0.00001
NM_206933.4(USH2A):c.13392G>A (p.Trp4464Ter) rs1219505844 0.00001
NM_206933.4(USH2A):c.13811+1G>A rs1177257719 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.14791+5G>T rs1235430504 0.00001
NM_206933.4(USH2A):c.15200del (p.Ile5067fs) rs1295968274 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) rs886039449 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.5573-834A>G rs1558244152 0.00001
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter) rs769609970 0.00001
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly) rs772407116 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala) rs762358589 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NC_000011.10:g.119346419_119352600del
NC_000015.10:g.89206897_89214258del
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr) rs1975936032
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2926C>T (p.Arg976Cys) rs1975949139
NM_000180.4(GUCY2D):c.3175A>T (p.Arg1059Ter) rs878853342
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000188.3(HK1):c.409T>A (p.Phe137Ile)
NM_000214.3(JAG1):c.73_74del (p.Arg25fs) rs2067513100
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) rs782639389
NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro) rs1953075862
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.2302A>T (p.Lys768Ter) rs1954927143
NM_000260.4(MYO7A):c.2694+1G>A rs1955083613
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) rs878853376
NM_000260.4(MYO7A):c.4568+1G>A rs1956849074
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.6355-2A>G rs1957972028
NM_000274.4(OAT):c.1014+1G>A rs1951414426
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala) rs121965045
NM_000283.4(PDE6B):c.1031T>C (p.Leu344Pro)
NM_000283.4(PDE6B):c.1066A>G (p.Asn356Asp) rs1736225856
NM_000283.4(PDE6B):c.1161dup (p.Ile388fs) rs1736334634
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.1841dup (p.Asn614fs) rs747970185
NM_000283.4(PDE6B):c.1927_1969delinsGG (p.Asn643fs) rs1737428529
NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter) rs1737429976
NM_000283.4(PDE6B):c.2019dup (p.Lys674fs)
NM_000283.4(PDE6B):c.2353-18_2354del rs1174120641
NM_000283.4(PDE6B):c.315del (p.Glu105fs) rs1734075026
NM_000283.4(PDE6B):c.774C>G (p.His258Gln) rs1735848896
NM_000283.4(PDE6B):c.993-1G>C rs527236090
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter) rs1242862941
NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter) rs1761921113
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg) rs1761907993
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter) rs1582780550
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly) rs61755794
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs) rs2152005352
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.644A>C (p.Asn215Thr)
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) rs61755805
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg) rs61755806
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr) rs1442844778
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe) rs1442844778
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val) rs1800113364
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) rs61755813
NM_000322.5(PRPH2):c.743del (p.Arg248fs) rs1800111486
NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe) rs1458793437
NM_000322.5(PRPH2):c.765_769del (p.Ser256fs) rs1800110798
NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter) rs1800110757
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.828G>T (p.Glu276Asp)
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) rs1799988458
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489
NM_000322.5(PRPH2):c.964_965del (p.Ser322fs) rs1799985749
NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter) rs561618945
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000327.4(ROM1):c.712del (p.Leu238fs) rs747855165
NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe) rs1645824260
NM_000329.3(RPE65):c.1420T>G (p.Ser474Ala)
NM_000330.4(RS1):c.133G>T (p.Gly45Ter) rs1928222017
NM_000330.4(RS1):c.176G>A (p.Cys59Tyr) rs1928220547
NM_000330.4(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.4(RS1):c.266dup (p.Tyr89Ter) rs1927819239
NM_000330.4(RS1):c.316C>T (p.Gln106Ter) rs1386256334
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.35T>A (p.Leu12His) rs62645879
NM_000330.4(RS1):c.375_379del (p.Asp126fs) rs1927703176
NM_000330.4(RS1):c.460C>T (p.Gln154Ter) rs61753164
NM_000330.4(RS1):c.53-1G>A rs1928241490
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369
NM_000350.3(ABCA4):c.1016G>A (p.Trp339Ter) rs1661663692
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1192dup (p.Ile398fs) rs1661625047
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg) rs886039299
NM_000350.3(ABCA4):c.160+2T>A rs886044721
NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs) rs1661162346
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) rs760790294
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs) rs1553192432
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu) rs58331765
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp) rs61749449
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys) rs1570377861
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.2980_2987del (p.Ile994fs) rs1306732480
NM_000350.3(ABCA4):c.302+4A>C rs1662599697
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.3235_3236del (p.Asp1079fs) rs1660532299
NM_000350.3(ABCA4):c.3279C>A (p.Asp1093Glu) rs1237125868
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn) rs1553190559
NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter) rs373868915
NM_000350.3(ABCA4):c.3379G>A (p.Gly1127Arg) rs1660481072
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His) rs1801269
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu) rs1660480045
NM_000350.3(ABCA4):c.3607+1G>A rs61752421
NM_000350.3(ABCA4):c.3682G>T (p.Glu1228Ter) rs1057517869
NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp) rs61752422
NM_000350.3(ABCA4):c.4254-1G>A rs886044740
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter) rs1283350532
NM_000350.3(ABCA4):c.4340_4343del (p.Glu1447fs) rs1660166963
NM_000350.3(ABCA4):c.4468T>G (p.Cys1490Gly) rs61750148
NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe) rs1660137001
NM_000350.3(ABCA4):c.4634+1del rs1659997092
NM_000350.3(ABCA4):c.4654dup (p.Val1552fs) rs1659953619
NM_000350.3(ABCA4):c.4667+1G>A rs751319688
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) rs61752438
NM_000350.3(ABCA4):c.4880T>C (p.Leu1627Pro)
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) rs1659840790
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5203del (p.Tyr1735fs) rs1659721337
NM_000350.3(ABCA4):c.5289del (p.Val1764fs) rs1553188071
NM_000350.3(ABCA4):c.5313-2A>G rs759513613
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter) rs776757706
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp) rs61750574
NM_000350.3(ABCA4):c.53G>C (p.Arg18Pro) rs868543294
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr) rs62642562
NM_000350.3(ABCA4):c.5575G>A (p.Ala1859Thr)
NM_000350.3(ABCA4):c.5580del (p.Phe1861fs) rs1659538743
NM_000350.3(ABCA4):c.570+2T>G
NM_000350.3(ABCA4):c.5846del (p.Gly1949fs) rs1659452428
NM_000350.3(ABCA4):c.5887C>A (p.Arg1963Ser)
NM_000350.3(ABCA4):c.5915del (p.Gly1972fs) rs1659430143
NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg) rs61750639
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala) rs1571247308
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter) rs62642580
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly) rs61750645
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs) rs1659061509
NM_000350.3(ABCA4):c.6817-2A>G rs1658918693
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) rs1356104318
NM_000390.2(CHM):c.1167del rs1927017073
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
NM_000390.4(CHM):c.1094_1095del (p.Leu365fs) rs1929999634
NM_000390.4(CHM):c.116+1G>T rs786204761
NM_000390.4(CHM):c.1286_1287del (p.Ile428_Ser429insTer)
NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)
NM_000390.4(CHM):c.1349+3A>C rs1326972655
NM_000390.4(CHM):c.1411C>T (p.Gln471Ter) rs1926202704
NM_000390.4(CHM):c.1438G>T (p.Glu480Ter)
NM_000390.4(CHM):c.1649T>C (p.Leu550Pro)
NM_000390.4(CHM):c.1770+2T>A rs1924181543
NM_000390.4(CHM):c.189+1G>C rs1931625021
NM_000390.4(CHM):c.315-1536A>G rs1555955061
NM_000390.4(CHM):c.355C>T (p.Gln119Ter) rs1930445401
NM_000390.4(CHM):c.37del (p.Ile12_Val13insTer) rs1934694621
NM_000390.4(CHM):c.436_439del (p.Leu146fs) rs1930435879
NM_000390.4(CHM):c.49+2T>C rs1934693393
NM_000390.4(CHM):c.509del (p.Asn170fs)
NM_000390.4(CHM):c.534dup (p.Glu179fs)
NM_000390.4(CHM):c.535dup (p.Glu179fs) rs1930424797
NM_000390.4(CHM):c.586del (p.Asp195_Met196insTer) rs1930421028
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) rs1930414140
NM_000390.4(CHM):c.820-1G>A rs1930090887
NM_000390.4(CHM):c.88del (p.Ser30fs)
NM_000431.4(MVK):c.794T>G (p.Leu265Arg) rs104895316
NM_000440.3(PDE6A):c.1263+1G>T rs369896113
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter) rs1754021035
NM_000440.3(PDE6A):c.999-2A>G rs1753232409
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.1034T>A (p.Val345Glu) rs1578281706
NM_000539.3(RHO):c.1045T>C (p.Ter349Gln) rs2084801700
NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter) rs2084757329
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.263T>C (p.Leu88Pro) rs1057521112
NM_000539.3(RHO):c.316G>T (p.Gly106Trp) rs104893773
NM_000539.3(RHO):c.532T>C (p.Tyr178His) rs2084785435
NM_000539.3(RHO):c.538C>G (p.Pro180Ala) rs1560046837
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.560G>T (p.Cys187Phe) rs1578280588
NM_000539.3(RHO):c.562G>A (p.Gly188Arg) rs527236100
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.569A>G (p.Asp190Gly) rs104893777
NM_000539.3(RHO):c.578C>A (p.Thr193Lys)
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.647T>G (p.Met216Arg) rs984572250
NM_000539.3(RHO):c.68C>T (p.Pro23Leu) rs104893768
NM_000539.3(RHO):c.918T>A (p.Tyr306Ter)
NM_000539.3(RHO):c.937-2A>G rs1578281565
NM_000539.3(RHO):c.948C>A (p.Cys316Ter)
NM_000539.3(RHO):c.969C>A (p.Cys323Ter) rs142771862
NM_000541.5(SAG):c.238G>T (p.Gly80Cys)
NM_000554.6(CRX):c.101-1G>A rs1968115710
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.193G>C (p.Asp65His) rs527236062
NM_000554.6(CRX):c.24dup (p.Pro9fs) rs62636512
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.437_449del (p.Leu146fs) rs1968165080
NM_000554.6(CRX):c.586del (p.Ala196fs) rs1968169004
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs) rs1968170098
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000554.6(CRX):c.727G>T (p.Gly243Ter)
NM_000717.5(CA4):c.687C>A (p.Cys229Ter)
NM_000717.5(CA4):c.937T>C (p.Ter313Arg)
NM_000843.4(GRM6):c.1205_1229del (p.Gln402fs) rs1760621228
NM_000883.4(IMPDH1):c.1296_1297del (p.Tyr433fs)
NM_000883.4(IMPDH1):c.1299C>A (p.Tyr433Ter)
NM_000883.4(IMPDH1):c.809T>G (p.Leu270Arg)
NM_000883.4(IMPDH1):c.809_810delinsGT (p.Leu270Arg) rs1798216037
NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro) rs121912552
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) rs121912550
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913
NM_001017979.3(RAB28):c.502del (p.Leu168fs) rs1328767121
NM_001023570.4(IQCB1):c.1278+1G>A rs1553711564
NM_001029883.3(PCARE):c.1883_1887del (p.Ala628fs) rs1667506537
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs) rs1667504255
NM_001029883.3(PCARE):c.2092A>T (p.Lys698Ter)
NM_001029883.3(PCARE):c.2665dup (p.Leu889fs) rs1558488513
NM_001029883.3(PCARE):c.2751del (p.Arg918fs) rs1182748194
NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs) rs761147595
NM_001029883.3(PCARE):c.3316G>T (p.Glu1106Ter)
NM_001029883.3(PCARE):c.402_405del (p.Ser134fs) rs762973163
NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001031710.3(KLHL7):c.472T>C (p.Cys158Arg) rs1784156837
NM_001034853.2(RPGR):c.1040del (p.Phe346_Leu347insTer)
NM_001034853.2(RPGR):c.1048A>G (p.Ile350Val)
NM_001034853.2(RPGR):c.1060-2A>G rs2067453631
NM_001034853.2(RPGR):c.1077T>A (p.Cys359Ter)
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter) rs2067451355
NM_001034853.2(RPGR):c.1135G>T (p.Glu379Ter)
NM_001034853.2(RPGR):c.1170del (p.Leu391fs) rs2067449854
NM_001034853.2(RPGR):c.1245+3A>G rs62635002
NM_001034853.2(RPGR):c.128dup (p.Asp44fs) rs2067985696
NM_001034853.2(RPGR):c.1304_1305del (p.Leu435fs)
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_001034853.2(RPGR):c.1491del (p.Asp498fs) rs2067277129
NM_001034853.2(RPGR):c.1538del (p.Lys513fs) rs2067267431
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)
NM_001034853.2(RPGR):c.1573-2del
NM_001034853.2(RPGR):c.1642G>T (p.Glu548Ter)
NM_001034853.2(RPGR):c.1663G>T (p.Glu555Ter) rs2067218363
NM_001034853.2(RPGR):c.1677T>A (p.Cys559Ter) rs2067217874
NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs) rs2067976665
NM_001034853.2(RPGR):c.1691dup (p.Gln565fs) rs2067217398
NM_001034853.2(RPGR):c.1721_1722insAT (p.Thr574_Thr575insTer)
NM_001034853.2(RPGR):c.1724_1725insGCATGAAGCAT (p.Ile576fs)
NM_001034853.2(RPGR):c.1807del (p.Glu603fs)
NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs) rs2067201139
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg) rs2067975926
NM_001034853.2(RPGR):c.2002del (p.His668fs)
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs) rs2067196140
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter) rs2067194648
NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter) rs2067193056
NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs) rs2067190364
NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter) rs1305342570
NM_001034853.2(RPGR):c.2138del (p.Lys713fs) rs2067191635
NM_001034853.2(RPGR):c.2153del (p.Gly718fs)
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter) rs2067191154
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs) rs2067190922
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs) rs1555961852
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter) rs2067188111
NM_001034853.2(RPGR):c.2293_2297del (p.Glu765fs) rs2067186762
NM_001034853.2(RPGR):c.2316del (p.Gly773fs)
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2409del (p.Arg804fs) rs2067182990
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter) rs2067182354
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter) rs2067179538
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs) rs2067176160
NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter) rs2067169164
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.28+5G>A rs62638626
NM_001034853.2(RPGR):c.2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs) rs2067136586
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter) rs866524368
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del) rs748582313
NM_001034853.2(RPGR):c.3190G>T (p.Glu1064Ter) rs2067117239
NM_001034853.2(RPGR):c.327dup (p.Ala110fs) rs2067878443
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs) rs2067114709
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp) rs2067878321
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.382_383del (p.Asn128fs) rs2067877357
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter) rs878853374
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg) rs62642057
NM_001042432.2(CLN3):c.533+1G>A rs386833728
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter) rs2046158549
NM_001042472.3(ABHD12):c.1036dup (p.Ser346fs) rs2088652401
NM_001042472.3(ABHD12):c.400G>T (p.Glu134Ter) rs2089115544
NM_001042472.3(ABHD12):c.620-2A>G rs1555811525
NM_001077182.3(FSCN2):c.827-1delG
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001122769.3(LCA5):c.1460_1461del (p.Pro487fs) rs1769707298
NM_001122769.3(LCA5):c.1794del (p.Glu599fs) rs1769692830
NM_001122769.3(LCA5):c.190+1G>A rs746351112
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter) rs781198326
NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs) rs1784887448
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.703dup (p.Arg235fs) rs1336317768
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter) rs1766556883
NM_001142800.2(EYS):c.116_117del (p.Tyr39fs)
NM_001142800.2(EYS):c.1207A>T (p.Lys403Ter) rs1765728504
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1222del (p.Ala408fs) rs1765727233
NM_001142800.2(EYS):c.1485G>C (p.Gly495=)
NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs) rs1768657480
NM_001142800.2(EYS):c.1871C>A (p.Ser624Ter) rs548565748
NM_001142800.2(EYS):c.216del (p.Ala73fs) rs1459031771
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2359del (p.Thr787fs)
NM_001142800.2(EYS):c.2381+1G>A rs1769267226
NM_001142800.2(EYS):c.2399G>T (p.Gly800Val)
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter) rs1767699695
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.3227_3243+1del
NM_001142800.2(EYS):c.3349del (p.Ser1117fs)
NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter) rs1767601715
NM_001142800.2(EYS):c.3568+1G>A rs1767600988
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs) rs1767312015
NM_001142800.2(EYS):c.3595G>T (p.Glu1199Ter)
NM_001142800.2(EYS):c.3684G>C (p.Met1228Ile)
NM_001142800.2(EYS):c.3736_3737del (p.Leu1246fs)
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs) rs2149832523
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4518del (p.Ile1507fs) rs1766404452
NM_001142800.2(EYS):c.4859C>G (p.Ser1620Ter)
NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs) rs1766383947
NM_001142800.2(EYS):c.5157dup (p.Glu1720fs)
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5836-1G>C rs2150463984
NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter) rs1774743530
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.6726-2973_6834+548del
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs) rs1770904723
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs) rs1431427428
NM_001142800.2(EYS):c.7807G>T (p.Gly2603Ter)
NM_001142800.2(EYS):c.7836_7837del (p.Pro2613fs)
NM_001142800.2(EYS):c.786dup (p.His263fs) rs1766009155
NM_001142800.2(EYS):c.7902dup (p.Asn2635fs)
NM_001142800.2(EYS):c.803del (p.Gly268fs) rs1766006937
NM_001142800.2(EYS):c.8233+1G>C rs1768621810
NM_001142800.2(EYS):c.8236G>C (p.Asp2746His)
NM_001142800.2(EYS):c.8278C>T (p.Arg2760Cys) rs1384884334
NM_001142800.2(EYS):c.8522_8525del (p.Pro2841fs) rs1768389030
NM_001142800.2(EYS):c.8687del (p.Thr2896fs)
NM_001142800.2(EYS):c.8868del (p.Ala2957fs) rs2149624477
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) rs1165454778
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9261dup (p.Gly3088fs) rs1768346880
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001142800.2(EYS):c.9432A>G (p.Thr3144=)
NM_001164665.2(KIAA1549):c.1796_1797del (p.Glu599fs)
NM_001164665.2(KIAA1549):c.2132C>T (p.Pro711Leu)
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) rs761440783
NM_001201543.2(FAM161A):c.804G>A (p.Ala268=) rs765487110
NM_001242957.3(MAK):c.1223A>T (p.Glu408Val)
NM_001242957.3(MAK):c.156+2T>C rs1201940872
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) rs1347914291
NM_001242957.3(MAK):c.368A>G (p.His123Arg)
NM_001242957.3(MAK):c.97A>C (p.Lys33Gln)
NM_001252024.2(TRPM1):c.415_422delinsC (p.Lys139fs) rs2034427266
NM_001256789.3(CACNA1F):c.1159dup (p.Asp387fs) rs2065833777
NM_001256789.3(CACNA1F):c.1183C>T (p.Gln395Ter) rs2065833366
NM_001256789.3(CACNA1F):c.2544-2A>T rs2065753439
NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter) rs2065740868
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter) rs2065717735
NM_001256789.3(CACNA1F):c.3406G>T (p.Glu1136Ter) rs2065701414
NM_001256789.3(CACNA1F):c.4490T>C (p.Leu1497Pro) rs2065644808
NM_001278293.3(ARL6):c.349+2T>C
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser) rs1555036138
NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp) rs906525288
NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter) rs1468272829
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001297.5(CNGB1):c.1976_1980dup (p.Phe661fs)
NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter) rs1960899756
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) rs1210263161
NM_001297.5(CNGB1):c.2225del (p.Leu742fs)
NM_001297.5(CNGB1):c.2256T>C (p.Tyr752=)
NM_001297.5(CNGB1):c.2542_2543insA (p.Gly848fs)
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.257G>C (p.Arg86Pro)
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_001297.5(CNGB1):c.3307del (p.Ala1103fs)
NM_001297.5(CNGB1):c.622C>T (p.Gln208Ter)
NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del
NM_001298.3(CNGA3):c.1271T>C (p.Met424Thr) rs1692915919
NM_001298.3(CNGA3):c.1580T>C (p.Leu527Pro) rs779023431
NM_001298.3(CNGA3):c.1611G>A (p.Gln537=) rs1692928194
NM_001298.3(CNGA3):c.1686C>A (p.Asn562Lys) rs1692930941
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter) rs1692508715
NM_001298.3(CNGA3):c.787T>G (p.Tyr263Asp) rs943314733
NM_001319074.4(RAX2):c.155C>G (p.Pro52Arg) rs76076446
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
NM_001319074.4(RAX2):c.465_475del (p.Ala156fs) rs886041039
NM_001330691.3(CEP78):c.211del (p.Val71fs) rs1363491382
NM_001330691.3(CEP78):c.254-1G>T rs1826145876
NM_001330691.3(CEP78):c.778+1G>A rs1826338661
NM_001349884.2(DRAM2):c.340-2A>G rs1292874452
NM_001354768.3(NRL):c.149C>T (p.Ser50Leu) rs2036353932
NM_001354768.3(NRL):c.152C>T (p.Pro51Leu) rs2036353653
NM_001354768.3(NRL):c.371A>C (p.Gln124Pro)
NM_001354768.3(NRL):c.516C>A (p.Tyr172Ter) rs768178406
NM_001354768.3(NRL):c.604C>A (p.Arg202=)
NM_001354768.3(NRL):c.74G>A (p.Arg25Gln)
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.831dup (p.Val278fs) rs775699005
NM_001377295.2(GNAT2):c.591-1G>C rs1649583816
NM_001377295.2(GNAT2):c.720+2T>C rs1557918544
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.2955_2956insCTATTCTGGACTG (p.Gly986fs) rs1553403585
NM_001378454.1(ALMS1):c.4498_4499del (p.Leu1500fs) rs1671925979
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) rs1270472063
NM_001378454.1(ALMS1):c.8811T>G (p.Tyr2937Ter) rs541559170
NM_001378454.1(ALMS1):c.9084T>A (p.Cys3028Ter) rs1672973685
NM_001378477.3(NYX):c.603_746del (p.Ser205_Arg252del) rs2064376489
NM_001378477.3(NYX):c.811_833del (p.Asp271fs) rs2064378728
NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro) rs748126956
NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs) rs772867912
NM_001379270.1(CNGA1):c.1429del (p.Ala477fs)
NM_001379270.1(CNGA1):c.1435T>C (p.Cys479Arg) rs1738698692
NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs) rs768694789
NM_001379500.1(COL18A1):c.1248+1G>A rs2035758739
NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter) rs1555870809
NM_001379500.1(COL18A1):c.2673del (p.Gly892fs) rs749009747
NM_001379500.1(COL18A1):c.688dup (p.Gln230fs) rs756223600
NM_001384140.1(PCDH15):c.3501+1G>A rs1402893508
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly) rs1768016995
NM_001384910.1(GUCA1A):c.332A>C (p.Glu111Ala) rs1554186385
NM_001384910.1(GUCA1A):c.428delinsACAC (p.Ile143delinsAsnThr) rs1554186463
NM_001563.4(IMPG1):c.1824+1G>T
NM_001563.4(IMPG1):c.262C>T (p.Gln88Ter) rs986664547
NM_001563.4(IMPG1):c.307C>T (p.Gln103Ter)
NM_001563.4(IMPG1):c.713T>C (p.Leu238Pro) rs713993045
NM_001844.5(COL2A1):c.1221+1G>A rs1399741348
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.2193_2193+1inv
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) rs2098614719
NM_002335.4(LRP5):c.4189_4192del (p.Leu1397fs) rs2098676296
NM_002335.4(LRP5):c.4452del (p.Ser1484fs) rs2098677212
NM_002497.4(NEK2):c.1010G>C (p.Arg337Pro)
NM_002497.4(NEK2):c.1027G>A (p.Asp343Asn)
NM_002497.4(NEK2):c.1270del (p.Ala424fs)
NM_002497.4(NEK2):c.534C>T (p.Gly178=)
NM_002497.4(NEK2):c.618_624del (p.Glu208fs)
NM_002500.5(NEUROD1):c.764C>T (p.Pro255Leu)
NM_002764.4(PRPS1):c.47C>T (p.Ser16Phe) rs1556297584
NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp) rs1556300610
NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp) rs1556300621
NM_002764.4(PRPS1):c.827C>T (p.Pro276Leu) rs1925733148
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) rs782469310
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) rs782215106
NM_002900.3(RBP3):c.2971_2973del (p.Met991del)
NM_002900.3(RBP3):c.3087C>T (p.Ile1029=)
NM_002900.3(RBP3):c.3459G>C (p.Glu1153Asp)
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys) rs200769197
NM_003322.6(TULP1):c.1255C>T (p.Arg419Trp) rs775334320
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.246_247del (p.Pro84fs) rs1305999116
NM_003322.6(TULP1):c.369G>C (p.Glu123Asp)
NM_003322.6(TULP1):c.821del (p.Lys274fs) rs774204108
NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del
NM_004183.4(BEST1):c.1100+1_1100+10del rs1941898895
NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter) rs1942208203
NM_004183.4(BEST1):c.169G>T (p.Glu57Ter) rs1382219910
NM_004183.4(BEST1):c.16A>G (p.Thr6Ala) rs28940275
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.241G>A (p.Val81Met) rs1555098634
NM_004183.4(BEST1):c.248-2A>G rs1941247515
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile) rs281865269
NM_004385.5(VCAN):c.1720del (p.Asp574fs) rs1746018557
NM_004523.4(KIF11):c.1134T>G (p.Tyr378Ter) rs1844615558
NM_004523.4(KIF11):c.2434_2438del (p.Ser812fs) rs1844909478
NM_004523.4(KIF11):c.2729dup (p.Asn910fs) rs1844944116
NM_004525.3(LRP2):c.4733G>C (p.Arg1578Pro) rs111733491
NM_004525.3(LRP2):c.9733G>T (p.Asp3245Tyr) rs759025536
NM_004698.4(PRPF3):c.1345C>G (p.Arg449Gly) rs1657981991
NM_004698.4(PRPF3):c.1532A>C (p.His511Pro) rs1658082808
NM_004727.3(SLC24A1):c.1132_1133del (p.Ser378fs) rs1566947860
NM_004727.3(SLC24A1):c.481C>T (p.Gln161Ter) rs200047855
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter) rs878853351
NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro) rs567435284
NM_004928.3(CFAP410):c.96+1G>T rs752137434
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs) rs1587620892
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter) rs869312183
NM_005802.5(TOPORS):c.2587dup (p.Arg863fs) rs1821068883
NM_005802.5(TOPORS):c.961A>G (p.Ile321Val) rs2118968698
NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1151G>A (p.Arg384Lys)
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_006017.3(PROM1):c.1682+1G>T rs1722845773
NM_006017.3(PROM1):c.1697del (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.2131-1G>A rs1577845276
NM_006017.3(PROM1):c.2309del (p.Pro770fs) rs878853400
NM_006017.3(PROM1):c.2373G>T (p.Leu791Phe) rs1718726537
NM_006017.3(PROM1):c.630+2T>A rs1578097528
NM_006017.3(PROM1):c.77_78del (p.Thr26fs) rs1743846367
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006204.4(PDE6C):c.1083_1086dup (p.Asn363fs) rs1403661741
NM_006204.4(PDE6C):c.1250A>G (p.His417Arg) rs746820022
NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer) rs1236291370
NM_006204.4(PDE6C):c.251T>C (p.Leu84Pro) rs2058399145
NM_006204.4(PDE6C):c.481-1G>A rs2058440863
NM_006214.4(PHYH):c.517C>A (p.Pro173Thr) rs1835617888
NM_006269.2(RP1):c.1001dup (p.Met335fs)
NM_006269.2(RP1):c.1047G>A (p.Trp349Ter) rs1805986090
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006269.2(RP1):c.1462del (p.Glu488fs) rs878853327
NM_006269.2(RP1):c.1598_1601del (p.Arg533fs) rs878853329
NM_006269.2(RP1):c.1721C>G (p.Ser574Ter) rs1806020324
NM_006269.2(RP1):c.1981G>T (p.Glu661Ter)
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2065C>T (p.Gln689Ter)
NM_006269.2(RP1):c.2185G>T (p.Glu729Ter)
NM_006269.2(RP1):c.2219C>A (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2232T>A (p.Cys744Ter) rs1806037949
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter) rs1488237523
NM_006269.2(RP1):c.2336_2337del (p.Lys778_Ser779insTer)
NM_006269.2(RP1):c.2360T>A (p.Leu787Ter) rs1806043158
NM_006269.2(RP1):c.2377A>G (p.Arg793Gly)
NM_006269.2(RP1):c.2430C>A (p.Cys810Ter) rs1230883512
NM_006269.2(RP1):c.2560del (p.Ser854fs)
NM_006269.2(RP1):c.2592_2596del (p.Thr865fs)
NM_006269.2(RP1):c.2597del (p.Thr865_Leu866insTer)
NM_006269.2(RP1):c.2599A>T (p.Lys867Ter)
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) rs1554519651
NM_006269.2(RP1):c.2671del (p.Arg891fs) rs1806057300
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.2756G>A (p.Trp919Ter) rs779290365
NM_006269.2(RP1):c.2757G>A (p.Trp919Ter) rs746396730
NM_006269.2(RP1):c.2999del (p.Gly1000fs)
NM_006269.2(RP1):c.3150dup (p.Leu1051fs) rs1806079331
NM_006269.2(RP1):c.3171C>A (p.Asn1057Lys)
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu) rs939932729
NM_006269.2(RP1):c.3669C>A (p.Cys1223Ter)
NM_006269.2(RP1):c.3827_3837del (p.Pro1276fs)
NM_006269.2(RP1):c.4089_4092del (p.Arg1364fs)
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570
NM_006269.2(RP1):c.4327C>T (p.Arg1443Trp) rs373109791
NM_006269.2(RP1):c.458del (p.Pro153fs)
NM_006269.2(RP1):c.4957_4984del (p.Lys1653fs) rs1806160527
NM_006269.2(RP1):c.5017del (p.Tyr1673fs) rs753090404
NM_006269.2(RP1):c.5502G>A (p.Leu1834=)
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479
NM_006269.2(RP1):c.742C>T (p.Gln248Ter) rs769156393
NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del
NM_006343.3(MERTK):c.1296+2dup rs1681147109
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs) rs775776288
NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly) rs541717028
NM_006343.3(MERTK):c.2189_2189+7delinsGGGGA rs1677289241
NM_006343.3(MERTK):c.368_369del (p.Tyr123fs) rs1684627892
NM_006343.3(MERTK):c.604C>T (p.Gln202Ter) rs1684979540
NM_006343.3(MERTK):c.933_935delinsTT (p.Pro313fs) rs878853355
NM_006445.4(PRPF8):c.3613G>A (p.Glu1205Lys)
NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs) rs878853387
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) rs1911391944
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.5986_5987+2del
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6449A>G (p.Gln2150Arg) rs1911081749
NM_006445.4(PRPF8):c.6778C>T (p.Gln2260Ter)
NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser) rs121434239
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006445.4(PRPF8):c.6961C>T (p.Gln2321Ter)
NM_006445.4(PRPF8):c.957G>T (p.Leu319Phe)
NM_006915.3(RP2):c.122_128delinsGGA (p.Met41fs) rs1924895234
NM_006915.3(RP2):c.168_178del (p.Val57fs) rs1924896735
NM_006915.3(RP2):c.178C>T (p.Gln60Ter) rs1924897230
NM_006915.3(RP2):c.28A>T (p.Lys10Ter)
NM_006915.3(RP2):c.296dup (p.Ser99fs)
NM_006915.3(RP2):c.324C>A (p.Cys108Ter) rs1924901288
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.353G>A (p.Arg118His) rs28933687
NM_006915.3(RP2):c.37A>T (p.Lys13Ter) rs1924521211
NM_006915.3(RP2):c.381del (p.Leu129fs)
NM_006915.3(RP2):c.507del (p.Asn169fs) rs878853381
NM_006915.3(RP2):c.677del (p.Gly226fs)
NM_006915.3(RP2):c.768+1G>C rs1924915809
NM_006915.3(RP2):c.774_777del (p.Gly259fs) rs1925035229
NM_006915.3(RP2):c.801_804del (p.Glu269fs)
NM_006915.3(RP2):c.87G>A (p.Trp29Ter) rs2147074689
NM_006944.3(SPP2):c.278G>A (p.Arg93Lys) rs2125455747
NM_006944.3(SPP2):c.49_52dup (p.Phe18fs)
NM_012418.4(FSCN2):c.1415G>C (p.Gly472Ala)
NM_012418.4(FSCN2):c.22C>T (p.Gln8Ter)
NM_012469.4(PRPF6):c.*1T>C rs1167495795
NM_012469.4(PRPF6):c.1629G>A (p.Trp543Ter)
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp) rs369787039
NM_014003.4(DHX38):c.1879T>A (p.Tyr627Asn)
NM_014003.4(DHX38):c.2258T>C (p.Ile753Thr) rs760947148
NM_014003.4(DHX38):c.601C>T (p.Arg201Ter)
NM_014014.5(SNRNP200):c.1249dup (p.Thr417fs)
NM_014014.5(SNRNP200):c.1625C>T (p.Ala542Val) rs2063918440
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser) rs2063893838
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) rs556400279
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr) rs2063883437
NM_014014.5(SNRNP200):c.2800A>C (p.Thr934Pro)
NM_014014.5(SNRNP200):c.5096del (p.Glu1699fs)
NM_014053.4(FLVCR1):c.539del (p.Gly180fs) rs1216093309
NM_014249.4(NR2E3):c.1199T>A (p.Met400Lys) rs2054237722
NM_014249.4(NR2E3):c.166G>C (p.Gly56Arg) rs121912631
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys) rs775720634
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) rs1257334132
NM_014249.4(NR2E3):c.748-1G>A rs2054201689
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014714.4(IFT140):c.1250_1271dup (p.Ser425fs) rs2034747055
NM_014714.4(IFT140):c.1359+1G>A rs2034739931
NM_014714.4(IFT140):c.1390G>T (p.Val464Leu) rs2034681207
NM_014714.4(IFT140):c.1525-2_1525-1del
NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs) rs2033706353
NM_014714.4(IFT140):c.217_218del (p.Arg73fs) rs2035847573
NM_014714.4(IFT140):c.2654G>A (p.Trp885Ter)
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.2772C>G (p.Tyr924Ter)
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys) rs759898401
NM_014714.4(IFT140):c.3014_3021del (p.Asn1005fs)
NM_014714.4(IFT140):c.3271-2A>C
NM_014714.4(IFT140):c.4078dup (p.Cys1360fs)
NM_014956.5(CEP164):c.470del (p.Pro157fs) rs2041025786
NM_015047.3(EMC1):c.793G>A (p.Asp265Asn) rs1439129239
NM_015047.3(EMC1):c.948C>T (p.Phe316=)
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) rs745934202
NM_015102.5(NPHP4):c.3644+1G>A rs756111113
NM_015629.4(PRPF31):c.1033dup (p.Ala345fs)
NM_015629.4(PRPF31):c.1040del (p.Leu347fs) rs2073964314
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) rs1342475527
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1073+1G>A rs794727001
NM_015629.4(PRPF31):c.1107_1113dup (p.Arg372fs) rs2073970450
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_015629.4(PRPF31):c.1146+1G>A rs2073971858
NM_015629.4(PRPF31):c.1154_1155insAG (p.Asp386fs)
NM_015629.4(PRPF31):c.118C>T (p.Gln40Ter)
NM_015629.4(PRPF31):c.1231_1232del (p.Gln411fs)
NM_015629.4(PRPF31):c.1406dup (p.Lys470fs) rs2074043162
NM_015629.4(PRPF31):c.183dup (p.Glu62Ter) rs2073708846
NM_015629.4(PRPF31):c.195del (p.Met65fs) rs2073709089
NM_015629.4(PRPF31):c.239-1G>A rs2073798309
NM_015629.4(PRPF31):c.239-1G>T rs2073798309
NM_015629.4(PRPF31):c.265G>T (p.Glu89Ter)
NM_015629.4(PRPF31):c.304G>T (p.Glu102Ter)
NM_015629.4(PRPF31):c.310G>T (p.Glu104Ter)
NM_015629.4(PRPF31):c.323-1G>C rs2146413215
NM_015629.4(PRPF31):c.358_361del (p.Lys120fs) rs2073817965
NM_015629.4(PRPF31):c.359del (p.Lys120fs) rs1555792415
NM_015629.4(PRPF31):c.400del (p.Asp134fs) rs878853331
NM_015629.4(PRPF31):c.421-2A>C rs1600340117
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.605dup (p.His202fs) rs2073854068
NM_015629.4(PRPF31):c.682GCC[1] (p.Ala229del) rs2073856361
NM_015629.4(PRPF31):c.698-1G>C rs2073871791
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs) rs2073701307
NM_015629.4(PRPF31):c.748del (p.Met250fs) rs2073873693
NM_015629.4(PRPF31):c.808dup (p.His270fs) rs2073875313
NM_015629.4(PRPF31):c.815G>T (p.Gly272Val) rs1555793203
NM_015629.4(PRPF31):c.854del (p.Pro285fs) rs2073876392
NM_015629.4(PRPF31):c.912_914dup (p.Val305dup) rs2073927586
NM_015629.4(PRPF31):c.946-2A>G rs2073961843
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter) rs878853335
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter) rs878853334
NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) rs1366937730
NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter) rs1706474422
NM_016247.4(IMPG2):c.1328_1335del (p.Ser443fs) rs1706473340
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs) rs1559643320
NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter) rs1472199114
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer) rs878853358
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter) rs1706439944
NM_016247.4(IMPG2):c.2867dup (p.Asn956fs) rs771246451
NM_016247.4(IMPG2):c.2973C>A (p.Tyr991Ter) rs1706423758
NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer) rs1706423076
NM_016247.4(IMPG2):c.3008_3009del (p.Leu1003fs) rs1706422873
NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe) rs1706305751
NM_016247.4(IMPG2):c.324dup (p.Lys109Ter)
NM_016247.4(IMPG2):c.3603_3604del (p.Gln1201fs)
NM_016247.4(IMPG2):c.572C>G (p.Ser191Ter) rs1706843510
NM_016247.4(IMPG2):c.68dup (p.Asp23fs) rs768660614
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro) rs1706811719
NM_016247.4(IMPG2):c.854dup (p.Gly286fs) rs1706755871
NM_016247.4(IMPG2):c.89_92del (p.Gln30fs)
NM_016247.4(IMPG2):c.922del (p.Tyr308fs) rs1706627397
NM_017890.4(VPS13B):c.(5983+1_5984-1)_(7125+1_7126-1)dup
NM_017890.4(VPS13B):c.(?_-1)_(937+1_938-1)del
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) rs878853385
NM_018418.5(SPATA7):c.730A>G (p.Thr244Ala)
NM_018474.6(KIZ):c.117G>T (p.Lys39Asn)
NM_018474.6(KIZ):c.1395_1398dup (p.Gln467fs) rs890128759
NM_018474.6(KIZ):c.62_65del (p.Gly21fs)
NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del
NM_019098.5(CNGB3):c.1197T>G (p.Tyr399Ter) rs1822989898
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_020184.4(CNNM4):c.648dup (p.Val217fs) rs2078764558
NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) rs878853392
NM_020366.4(RPGRIP1):c.1445T>A (p.Leu482Ter) rs878853391
NM_020366.4(RPGRIP1):c.1773dup (p.Asp592fs) rs1882854195
NM_020366.4(RPGRIP1):c.2007del (p.Val670fs) rs878853390
NM_020366.4(RPGRIP1):c.2230G>T (p.Glu744Ter) rs1882945917
NM_020366.4(RPGRIP1):c.2406G>A (p.Trp802Ter) rs1883031542
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs) rs1739469293
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs) rs878853389
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020949.3(SLC7A14):c.1682C>T (p.Thr561Met)
NM_020949.3(SLC7A14):c.1778A>G (p.Gln593Arg)
NM_021831.6(AGBL5):c.1114del (p.Gln372fs) rs1668402514
NM_021831.6(AGBL5):c.1618C>T (p.Pro540Ser)
NM_022124.6(CDH23):c.2060-1G>A rs1865145294
NM_022124.6(CDH23):c.2132_2139del (p.Ile710_Tyr711insTer) rs1865149889
NM_022124.6(CDH23):c.336+1G>T rs764824311
NM_022124.6(CDH23):c.3369+1G>A rs769524849
NM_022124.6(CDH23):c.3417C>A (p.Tyr1139Ter) rs1866696630
NM_022124.6(CDH23):c.6050-1G>A rs762805265
NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs) rs1841315122
NM_022124.6(CDH23):c.6838_6841del (p.Thr2280fs) rs1841460358
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_022124.6(CDH23):c.849del (p.Phe284fs) rs1861132418
NM_022124.6(CDH23):c.9198+2T>A rs1841921374
NM_022367.4(SEMA4A):c.1122_1123dup (p.Arg375fs) rs760609808
NM_022367.4(SEMA4A):c.1377G>C (p.Glu459Asp)
NM_022787.4(NMNAT1):c.104T>C (p.Met35Thr) rs1641704371
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1473+2T>C rs1856699646
NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter) rs1856787758
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) rs1856790811
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.472A>G (p.Ser158Gly)
NM_024649.5(BBS1):c.724-8_726del rs1856202628
NM_024741.3(ZNF408):c.1219C>T (p.Arg407Trp)
NM_024741.3(ZNF408):c.604C>T (p.Gln202Ter)
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.1894A>G (p.Lys632Glu)
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2124_2125insGGCTTTCA (p.Thr709fs)
NM_025114.4(CEP290):c.2818-2A>G rs2038012556
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3220G>T (p.Glu1074Ter) rs2037229663
NM_025114.4(CEP290):c.4490C>A (p.Ser1497Ter) rs1345994179
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361
NM_025114.4(CEP290):c.5201_5202del (p.Leu1734fs)
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.560_561insTT (p.Ile187_Asp188insTer)
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter) rs2033943937
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) rs2033937635
NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs) rs1555874538
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) rs1243587288
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_031885.5(BBS2):c.1276G>T (p.Glu426Ter)
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.2060-1G>T rs1555520142
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs) rs1307312865
NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs) rs1754556067
NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs) rs1755688091
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) rs1758488956
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) rs1764301206
NM_032119.4(ADGRV1):c.16940del (p.Val5647fs) rs1364707671
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter) rs1185617030
NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs) rs878853348
NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter) rs1748947002
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_033028.5(BBS4):c.642+3A>G rs2065735740
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly) rs1554857529
NM_033100.4(CDHR1):c.1468delinsCGC (p.Ser490fs) rs1842324166
NM_033100.4(CDHR1):c.2410_2485del (p.Thr804fs) rs1564666557
NM_033100.4(CDHR1):c.270dup (p.Thr91fs) rs878853347
NM_033100.4(CDHR1):c.790del (p.Glu264fs) rs1842189258
NM_033629.6(TREX1):c.940del (p.Glu314fs)
NM_080680.3(COL11A2):c.3075del (p.Gly1027fs) rs1770116834
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.908T>A (p.Leu303Ter) rs1732788163
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs) rs1554628460
NM_133497.4(KCNV2):c.381del (p.Thr128fs) rs141099767
NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs) rs1819778559
NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg) rs977790637
NM_133497.4(KCNV2):c.721_722delinsTA (p.Pro241Ter) rs1819787095
NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly) rs754275640
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs) rs1819797791
NM_145200.5(CABP4):c.65del (p.Pro22fs) rs775166854
NM_145200.5(CABP4):c.800-18_*795del rs1554998040
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg) rs2038196341
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp) rs751589863
NM_152443.3(RDH12):c.759del (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.761_762insA (p.Phe254fs)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter) rs974173261
NM_153676.4(USH1C):c.491_492del (p.Val164fs) rs1850741468
NM_153676.4(USH1C):c.560del (p.Gln187fs) rs1850697098
NM_170784.3(MKKS):c.1268_1272delinsC (p.His423fs) rs2064852005
NM_172240.3(POC1B):c.238C>T (p.Arg80Ter) rs769102771
NM_174878.3(CLRN1):c.154C>T (p.Gln52Ter) rs1715594024
NM_174878.3(CLRN1):c.165del (p.Asp55fs) rs1235835151
NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter) rs878853379
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.342-2A>G rs1560664459
NM_178857.6(RP1L1):c.1288C>T (p.Gln430Ter)
NM_178857.6(RP1L1):c.1779G>T (p.Thr593=)
NM_178857.6(RP1L1):c.2053_2056del (p.Gln685fs) rs1797868307
NM_178857.6(RP1L1):c.25C>T (p.Gln9Ter) rs1486810062
NM_178857.6(RP1L1):c.3026_3029del (p.Ala1009fs)
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.397G>T (p.Glu133Ter)
NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter) rs2117226120
NM_178857.6(RP1L1):c.4483C>T (p.Pro1495Ser)
NM_178857.6(RP1L1):c.5154G>C (p.Thr1718=)
NM_178857.6(RP1L1):c.5438A>G (p.Asn1813Ser)
NM_178857.6(RP1L1):c.583C>T (p.Gln195Ter)
NM_178857.6(RP1L1):c.831del (p.Arg277fs) rs1797910388
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1229G>A (p.Gly410Asp) rs2125468954
NM_201253.3(CRB1):c.1253del (p.Asn418fs)
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) rs878853364
NM_201253.3(CRB1):c.1689del (p.Ser563fs)
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.201_202del (p.Cys67_Asp68delinsTer) rs1658656722
NM_201253.3(CRB1):c.2138C>T (p.Ala713Val) rs1664643556
NM_201253.3(CRB1):c.2363T>C (p.Leu788Pro)
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr) rs1553249226
NM_201253.3(CRB1):c.2598A>C (p.Pro866=)
NM_201253.3(CRB1):c.2676+1G>T rs1664686689
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) rs878853371
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) rs1558138741
NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter) rs1665100409
NM_201253.3(CRB1):c.3522_3523del (p.Cys1174_Glu1175delinsTer) rs1665102146
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3878+2dup rs1665282720
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter) rs878853369
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.71del (p.Asn24fs) rs1654722914
NM_201253.3(CRB1):c.807dup (p.Pro270fs) rs878853366
NM_201253.3(CRB1):c.84dup (p.Lys29Ter)
NM_201548.5(CERKL):c.1269-3C>G rs1553512879
NM_201548.5(CERKL):c.1393A>G (p.Thr465Ala)
NM_201548.5(CERKL):c.252T>A (p.Tyr84Ter) rs1685573282
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.419T>C (p.Leu140Pro) rs1481841151
NM_201548.5(CERKL):c.550C>T (p.Gln184Ter) rs1689011389
NM_201548.5(CERKL):c.566_569delinsGTG (p.Lys189fs) rs1689010156
NM_201548.5(CERKL):c.638dup (p.Ser214fs)
NM_201548.5(CERKL):c.677+1G>A rs1005130980
NM_201548.5(CERKL):c.896-1G>A rs1687854945
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter) rs769632183
NM_205861.3(DHDDS):c.736C>T (p.Gln246Ter)
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10183-2A>G rs1661818720
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter) rs1661687852
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10939+1G>T
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter) rs1661140054
NM_206933.4(USH2A):c.11053T>C (p.Trp3685Arg)
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter) rs143453173
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11189del (p.Glu3730fs) rs1660922779
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs) rs762070900
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.4(USH2A):c.11895del (p.Gln3966fs) rs1659887829
NM_206933.4(USH2A):c.12226C>T (p.Gln4076Ter)
NM_206933.4(USH2A):c.12252del (p.Leu4085fs) rs1658179729
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter) rs1657997730
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter) rs757525434
NM_206933.4(USH2A):c.12407C>T (p.Thr4136Ile)
NM_206933.4(USH2A):c.12409del (p.Arg4137fs) rs1657992342
NM_206933.4(USH2A):c.12416del (p.Gly4139fs)
NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.4(USH2A):c.1267G>T (p.Gly423Ter)
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.4(USH2A):c.1277dup (p.Asn426fs) rs2037679829
NM_206933.4(USH2A):c.12913del (p.Met4305fs) rs1657961646
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs) rs1485393201
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13834dup (p.Cys4612fs)
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs) rs1419913594
NM_206933.4(USH2A):c.14010C>A (p.Tyr4670Ter)
NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter) rs1657799720
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter) rs1657798642
NM_206933.4(USH2A):c.14103A>G (p.Glu4701=)
NM_206933.4(USH2A):c.14125dup (p.Glu4709fs) rs1657796004
NM_206933.4(USH2A):c.14205del (p.Glu4736fs)
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter) rs766370703
NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14649del (p.Ile4883fs) rs1656901821
NM_206933.4(USH2A):c.14739C>A (p.Asn4913Lys)
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs) rs1656646221
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs) rs1656416727
NM_206933.4(USH2A):c.15192A>G (p.Gln5064=)
NM_206933.4(USH2A):c.1550+2T>C rs2037658254
NM_206933.4(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.4(USH2A):c.1562A>G (p.His521Arg)
NM_206933.4(USH2A):c.1644+2T>A rs2037617658
NM_206933.4(USH2A):c.1672del (p.Asp558fs) rs2037018431
NM_206933.4(USH2A):c.1774_1792del (p.Pro592fs)
NM_206933.4(USH2A):c.199T>C (p.Cys67Arg)
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.4(USH2A):c.2293del (p.Gln765fs) rs2036066604
NM_206933.4(USH2A):c.2649dup (p.Pro884fs) rs2036054600
NM_206933.4(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.4(USH2A):c.2761del (p.Leu921fs) rs2036051613
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs) rs2035704899
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_206933.4(USH2A):c.3718del (p.Gln1240fs)
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3934del (p.Ala1312fs) rs2102464166
NM_206933.4(USH2A):c.4083A>C (p.Ala1361=)
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.4(USH2A):c.4431_4448del (p.Ile1478_Ile1483del)
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs) rs2032220940
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs) rs1558251742
NM_206933.4(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.4(USH2A):c.5391_5395del (p.Asn1797fs)
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
NM_206933.4(USH2A):c.5857+1G>C rs2031604509
NM_206933.4(USH2A):c.5865_5866del (p.Ser1956fs)
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6470del (p.Arg2157fs) rs878853414
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His) rs1421761057
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg) rs2038568675
NM_206933.4(USH2A):c.7252C>T (p.Gln2418Ter)
NM_206933.4(USH2A):c.725dup (p.Ser243fs) rs1195779037
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.7940del (p.Pro2647fs) rs1665132445
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs) rs1664810877
NM_206933.4(USH2A):c.8859del (p.Gln2954fs) rs1663836291
NM_206933.4(USH2A):c.9201T>A (p.Asn3067Lys)
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9307del (p.Ile3103fs) rs1558121260
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) rs1662771528
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_207352.4(CYP4V2):c.1090G>A (p.Gly364Arg)
NM_207352.4(CYP4V2):c.1297T>C (p.Phe433Leu)
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp) rs199476190
NM_207352.4(CYP4V2):c.792dup (p.Thr265fs) rs775749608
NM_207352.4(CYP4V2):c.873del (p.Ser292fs)
Single allele

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