ClinVar Miner

List of variants reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5255
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_001004334.4(GPR179):c.1478A>G (p.His493Arg) rs4550493 0.95085
NM_001004334.4(GPR179):c.909C>T (p.Val303=) rs9894059 0.75365
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_203288.2(RP9):c.629A>G (p.Lys210Arg) rs150987618 0.16255
NM_004698.4(PRPF3):c.1283-25_1288dup rs372916275 0.08240
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02173
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_014989.7(RIMS1):c.1776G>A (p.Glu592=) rs77121218 0.01826
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_006445.4(PRPF8):c.3061-11T>G rs11652160 0.01070
NM_001034853.2(RPGR):c.2808A>T (p.Glu936Asp) rs187844918 0.01026
NM_001099271.2(POC5):c.337C>T (p.Pro113Ser) rs79392300 0.00913
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly) rs751314374 0.00844
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr) rs148594713 0.00636
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
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_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_173467.5(MCAT):c.235C>G (p.Arg79Gly) rs77536207 0.00355
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_001012720.2(RGR):c.744+5A>G rs143720091 0.00334
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_014989.7(RIMS1):c.438C>T (p.Arg146=) rs142196418 0.00298
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00239
NM_000313.4(PROS1):c.227C>T (p.Pro76Leu) rs73846070 0.00238
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_002929.3(GRK1):c.1220G>A (p.Arg407Gln) rs202076986 0.00214
NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) rs61751223 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984 0.00198
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_001330691.3(CEP78):c.1846-1G>C rs146563928 0.00193
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_031475.3(ESPN):c.858+11G>T rs768433856 0.00182
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) rs150172233 0.00178
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) rs138190335 0.00175
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=) rs200934141 0.00157
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398 0.00154
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_003322.6(TULP1):c.1297G>A (p.Glu433Lys) rs74461100 0.00149
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00148
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_145290.4(ADGRA3):c.1582G>A (p.Gly528Ser) rs61745011 0.00146
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_033100.4(CDHR1):c.1553+6T>C rs199567321 0.00139
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_001142800.2(EYS):c.1184+14T>C rs182780299 0.00132
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) rs121909075 0.00129
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser) rs184500376 0.00122
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_025103.4(IFT74):c.665T>C (p.Met222Thr) rs144847384 0.00121
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) rs41306784 0.00112
NM_001177701.3(IFT27):c.322C>T (p.Arg108Trp) rs143842386 0.00112
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_003322.6(TULP1):c.797G>T (p.Gly266Val) rs150480343 0.00111
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=) rs190562383 0.00108
NM_001029883.3(PCARE):c.2502T>C (p.Pro834=) rs184644658 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) rs138315990 0.00098
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119 0.00097
NM_138393.4(REEP6):c.469G>A (p.Asp157Asn) rs145541565 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_005559.4(LAMA1):c.6257A>C (p.Lys2086Thr) rs142934543 0.00094
NM_014003.4(DHX38):c.55G>A (p.Asp19Asn) rs145829337 0.00094
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) rs143529458 0.00093
NM_000440.3(PDE6A):c.498G>A (p.Val166=) rs138274547 0.00092
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln) rs186714117 0.00087
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) rs142244640 0.00084
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_001385641.1(SAMD11):c.1596G>C (p.Glu532Asp) rs564703450 0.00083
NM_145290.4(ADGRA3):c.470G>A (p.Arg157Gln) rs144574896 0.00083
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383 0.00082
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_001012720.2(RGR):c.454C>A (p.His152Asn) rs150808273 0.00081
NM_001012720.2(RGR):c.493G>T (p.Asp165Tyr) rs149516779 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=) rs185715311 0.00079
NM_032520.5(GNPTG):c.161A>T (p.Asp54Val) rs368478807 0.00079
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827 0.00075
NM_199355.4(ADAMTS18):c.37G>C (p.Ala13Pro) rs751818903 0.00074
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104 0.00073
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr) rs144637286 0.00070
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00070
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_005559.4(LAMA1):c.6152G>A (p.Arg2051Gln) rs145781920 0.00068
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271 0.00067
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_001177701.3(IFT27):c.503C>T (p.Ala168Val) rs118095726 0.00066
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) rs201186180 0.00066
NM_004385.5(VCAN):c.854C>T (p.Ala285Val) rs144939909 0.00066
NM_144643.4(SCLT1):c.447A>T (p.Glu149Asp) rs140181990 0.00066
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_001385641.1(SAMD11):c.1774C>T (p.Arg592Trp) rs546721340 0.00063
NM_002497.4(NEK2):c.401G>A (p.Gly134Asp) rs146297864 0.00063
NM_001164688.2(RD3):c.519G>A (p.Val173=) rs139419737 0.00062
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala) rs148744804 0.00062
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_000440.3(PDE6A):c.1408-11G>A rs201527437 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) rs201617759 0.00058
NM_018418.5(SPATA7):c.381C>T (p.Gly127=) rs371280215 0.00058
NM_145290.4(ADGRA3):c.989G>A (p.Arg330His) rs150340074 0.00058
NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu) rs138435590 0.00058
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518 0.00057
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala) rs201393573 0.00057
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln) rs139299230 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys) rs199583058 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001379286.1(ZNF423):c.2876C>T (p.Thr959Met) rs200057861 0.00052
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_014444.5(TUBGCP4):c.1652G>A (p.Arg551Gln) rs199517801 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_052844.4(DYNC2I2):c.1499C>T (p.Ala500Val) rs142210358 0.00051
NM_052844.4(DYNC2I2):c.19C>T (p.Pro7Ser) rs762357801 0.00051
NM_000440.3(PDE6A):c.177A>G (p.Glu59=) rs146550067 0.00050
NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys) rs749409983 0.00050
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353 0.00050
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00050
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_145290.4(ADGRA3):c.2392C>T (p.Leu798Phe) rs149451001 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_178857.6(RP1L1):c.6586A>G (p.Ile2196Val) rs200407750 0.00047
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00046
NM_015072.5(TTLL5):c.609G>C (p.Glu203Asp) rs17856074 0.00046
NM_015072.5(TTLL5):c.824A>G (p.Lys275Arg) rs145430209 0.00046
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln) rs138511988 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser) rs199731969 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_004183.4(BEST1):c.1087A>C (p.Thr363Pro) rs147228028 0.00045
NM_006343.3(MERTK):c.2305A>G (p.Ile769Val) rs147899488 0.00045
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_005802.5(TOPORS):c.722C>T (p.Thr241Met) rs41272913 0.00044
NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr) rs146822426 0.00044
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_000883.4(IMPDH1):c.833C>T (p.Thr278Met) rs149093302 0.00043
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319 0.00043
NM_024741.3(ZNF408):c.457C>T (p.Leu153Phe) rs140201502 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala) rs140967031 0.00042
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_006329.4(FBLN5):c.127A>G (p.Ile43Val) rs143928468 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_001164665.2(KIAA1549):c.598A>G (p.Met200Val) rs371772877 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_032730.5(RTN4IP1):c.685G>T (p.Asp229Tyr) rs138679791 0.00041
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) rs34447581 0.00040
NM_000350.3(ABCA4):c.4353-4T>C rs375886479 0.00039
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp) rs201017334 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr) rs200490093 0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_199355.4(ADAMTS18):c.1916A>G (p.Asn639Ser) rs142639977 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_006269.2(RP1):c.615+3G>A rs199632605 0.00037
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_005559.4(LAMA1):c.5789C>T (p.Thr1930Met) rs142286229 0.00036
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006269.2(RP1):c.5375C>G (p.Ala1792Gly) rs780301238 0.00035
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371 0.00034
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met) rs148015012 0.00034
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_000541.5(SAG):c.473C>A (p.Thr158Lys) rs199537652 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.3568+5T>C rs539477235 0.00034
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) rs183144150 0.00034
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) rs190014426 0.00034
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_006204.4(PDE6C):c.792G>A (p.Ala264=) rs375235184 0.00034
NM_006944.3(SPP2):c.328T>G (p.Tyr110Asp) rs200097563 0.00034
NM_015102.5(NPHP4):c.2485+9C>A rs200952409 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_207352.4(CYP4V2):c.169T>C (p.Tyr57His) rs374174110 0.00034
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000539.3(RHO):c.517G>A (p.Ala173Thr) rs139731264 0.00033
NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu) rs201933656 0.00033
NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His) rs117105175 0.00033
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_005559.4(LAMA1):c.7550C>T (p.Thr2517Met) rs376219041 0.00033
NM_005559.4(LAMA1):c.7600C>T (p.Arg2534Trp) rs376978539 0.00033
NM_006343.3(MERTK):c.98C>T (p.Pro33Leu) rs144751432 0.00033
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg) rs200637817 0.00033
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813 0.00033
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln) rs374009466 0.00032
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960 0.00032
NM_001349884.2(DRAM2):c.737T>C (p.Leu246Pro) rs148031211 0.00032
NM_001379286.1(ZNF423):c.2531C>T (p.Ala844Val) rs201213567 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_015041.3(CLUAP1):c.1084G>A (p.Asp362Asn) rs142451935 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_172364.5(CACNA2D4):c.1562C>T (p.Thr521Met) rs376351407 0.00032
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg) rs144099488 0.00031
NM_006343.3(MERTK):c.791C>G (p.Ala264Gly) rs199779970 0.00031
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe) rs78239264 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011 0.00030
NM_145290.4(ADGRA3):c.2926A>G (p.Met976Val) rs200785534 0.00030
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln) rs200213603 0.00030
NM_178857.6(RP1L1):c.609+2T>C rs199958805 0.00030
NM_000313.4(PROS1):c.431C>A (p.Thr144Asn) rs146366248 0.00029
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_001029883.3(PCARE):c.959G>A (p.Arg320His) rs201617661 0.00029
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565 0.00029
NM_004055.5(CAPN5):c.1282A>G (p.Ile428Val) rs147530510 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_172364.5(CACNA2D4):c.1295T>C (p.Ile432Thr) rs200480596 0.00029
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) rs201609001 0.00029
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_003322.6(TULP1):c.901C>G (p.Gln301Glu) rs201070350 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_014249.4(NR2E3):c.205G>A (p.Gly69Ser) rs200102936 0.00028
NM_001034853.2(RPGR):c.1721C>T (p.Thr574Met) rs202013664 0.00027
NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp) rs571399433 0.00027
NM_001312673.2(PCYT1A):c.983G>A (p.Arg328His) rs199831548 0.00027
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_015041.3(CLUAP1):c.598A>G (p.Lys200Glu) rs140896019 0.00027
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_021831.6(AGBL5):c.1793G>A (p.Arg598His) rs201894006 0.00027
NM_000278.5(PAX2):c.491C>A (p.Thr164Asn) rs370214925 0.00026
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 0.00026
NM_000440.3(PDE6A):c.497T>C (p.Val166Ala) rs199887926 0.00026
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) rs200684841 0.00026
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_005530.3(IDH3A):c.13G>T (p.Ala5Ser) rs199857658 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006899.5(IDH3B):c.916-10C>T rs202127751 0.00026
NM_018942.3(HMX1):c.824G>A (p.Gly275Glu) rs577238615 0.00026
NM_021831.6(AGBL5):c.78A>C (p.Glu26Asp) rs140434382 0.00026
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500 0.00026
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000843.4(GRM6):c.643T>C (p.Tyr215His) rs144362143 0.00025
NM_005869.4(CWC27):c.121A>G (p.Ile41Val) rs201232840 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_018942.3(HMX1):c.578G>T (p.Arg193Leu) rs773754788 0.00025
NM_033100.4(CDHR1):c.1474G>C (p.Val492Leu) rs141797175 0.00025
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484 0.00024
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562 0.00024
NM_006269.2(RP1):c.652G>A (p.Ala218Thr) rs145691085 0.00024
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser) rs142411659 0.00024
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn) rs200389505 0.00024
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) rs202076893 0.00024
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) rs199882533 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015909.4(NBAS):c.4085C>A (p.Thr1362Lys) rs144520644 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_031475.3(ESPN):c.337C>T (p.Arg113Cys) rs143577178 0.00024
NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile) rs141173656 0.00024
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282 0.00024
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000440.3(PDE6A):c.282G>A (p.Met94Ile) rs150808864 0.00023
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_004385.5(VCAN):c.2656A>G (p.Thr886Ala) rs138220992 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001164665.2(KIAA1549):c.5312G>C (p.Gly1771Ala) rs200895778 0.00022
NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn) rs202154862 0.00022
NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys) rs146971652 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu) rs200802261 0.00022
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys) rs200809211 0.00021
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001164665.2(KIAA1549):c.5279C>T (p.Thr1760Met) rs201894165 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser) rs367824632 0.00021
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser) rs137853908 0.00021
NM_014003.4(DHX38):c.487G>T (p.Asp163Tyr) rs201640902 0.00021
NM_020366.4(RPGRIP1):c.218+6T>C rs370643056 0.00021
NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe) rs753129566 0.00021
NM_024741.3(ZNF408):c.2137G>A (p.Val713Met) rs201697919 0.00021
NM_182916.3(TRNT1):c.107A>T (p.Glu36Val) rs138682354 0.00021
NM_207352.4(CYP4V2):c.254G>A (p.Arg85His) rs559133074 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys) rs201406216 0.00020
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_001242957.3(MAK):c.787G>A (p.Glu263Lys) rs199689074 0.00020
NM_001377.3(DYNC2H1):c.913G>A (p.Val305Met) rs201188696 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001563.4(IMPG1):c.1738C>T (p.Arg580Cys) rs142123216 0.00020
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_015629.4(PRPF31):c.681G>A (p.Thr227=) rs141325097 0.00020
NM_172364.5(CACNA2D4):c.1216G>A (p.Gly406Ser) rs375148197 0.00020
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385 0.00020
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg) rs368367104 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu) rs376925793 0.00019
NM_001012720.2(RGR):c.595A>G (p.Met199Val) rs75812744 0.00019
NM_001164665.2(KIAA1549):c.5717C>G (p.Pro1906Arg) rs199760888 0.00019
NM_001252024.2(TRPM1):c.281A>G (p.Tyr94Cys) rs200514769 0.00019
NM_001256789.3(CACNA1F):c.3236+3G>A rs199932603 0.00019
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_001367823.1(ARHGEF18):c.3982G>A (p.Gly1328Arg) rs143702386 0.00019
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys) rs199901120 0.00019
NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val) rs142539130 0.00019
NM_005802.5(TOPORS):c.352C>T (p.Arg118Cys) rs200405067 0.00019
NM_006214.4(PHYH):c.581C>T (p.Thr194Met) rs141554572 0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_014003.4(DHX38):c.2011-3C>A rs368562010 0.00019
NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys) rs201478168 0.00019
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter) rs151039691 0.00019
NM_020949.3(SLC7A14):c.1976C>T (p.Ala659Val) rs200600060 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_031433.4(MFRP):c.192C>G (p.Arg64=) rs200143181 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_032730.5(RTN4IP1):c.1120A>G (p.Lys374Glu) rs146792329 0.00019
NM_130837.3(OPA1):c.2441-4dup rs761286590 0.00019
NM_201548.5(CERKL):c.1237G>T (p.Val413Leu) rs145489428 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00018
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000541.5(SAG):c.1132G>A (p.Val378Ile) rs200602069 0.00018
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567 0.00018
NM_001042472.3(ABHD12):c.62C>T (p.Ser21Phe) rs773035473 0.00018
NM_001298.3(CNGA3):c.1949A>C (p.Glu650Ala) rs139368657 0.00018
NM_001298.3(CNGA3):c.869G>A (p.Arg290His) rs199837807 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_022367.4(SEMA4A):c.2038T>C (p.Tyr680His) rs141712100 0.00018
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser) rs371273730 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_001004334.4(GPR179):c.5083G>A (p.Glu1695Lys) rs199697891 0.00017
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) rs79536709 0.00017
NM_001244926.2(PRPF4):c.1328C>T (p.Thr443Ile) rs199753287 0.00017
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala) rs563764064 0.00017
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_006269.2(RP1):c.2386G>A (p.Gly796Ser) rs202031905 0.00017
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746 0.00017
NM_020184.4(CNNM4):c.91T>C (p.Trp31Arg) rs760633483 0.00017
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) rs190235251 0.00017
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) rs150812168 0.00017
NM_177972.3(TUB):c.1270G>A (p.Glu424Lys) rs370188104 0.00017
NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys) rs201291934 0.00017
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489 0.00016
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys) rs148637474 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) rs191205969 0.00016
NM_001385641.1(SAMD11):c.994C>T (p.Arg332Cys) rs145975434 0.00016
NM_001851.6(COL9A1):c.158A>G (p.Asp53Gly) rs564421091 0.00016
NM_002098.6(GUCA1B):c.187C>T (p.Arg63Ter) rs200394928 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006017.3(PROM1):c.1378G>A (p.Val460Met) rs200142945 0.00016
NM_006269.2(RP1):c.3101A>T (p.His1034Leu) rs148296108 0.00016
NM_006269.2(RP1):c.5805T>G (p.Phe1935Leu) rs140137224 0.00016
NM_015072.5(TTLL5):c.1255A>G (p.Arg419Gly) rs143853946 0.00016
NM_020461.4(TUBGCP6):c.4513G>A (p.Asp1505Asn) rs201406500 0.00016
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_021831.6(AGBL5):c.1466G>A (p.Arg489His) rs202108566 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr) rs149652495 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_033100.4(CDHR1):c.1589C>G (p.Thr530Ser) rs140097244 0.00016
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_144643.4(SCLT1):c.1047+12A>G rs770806266 0.00016
NM_145200.5(CABP4):c.605C>T (p.Thr202Met) rs150929930 0.00016
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_001039348.3(EFEMP1):c.1420G>C (p.Gly474Arg) rs200959130 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile) rs147796755 0.00015
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258 0.00015
NM_007186.6(CEP250):c.4632G>T (p.Gln1544His) rs138568893 0.00015
NM_007348.4(ATF6):c.326A>G (p.Asp109Gly) rs2271011 0.00015
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_052844.4(DYNC2I2):c.14C>G (p.Ala5Gly) rs544655044 0.00015
NM_178857.6(RP1L1):c.262C>T (p.His88Tyr) rs201171027 0.00015
NM_207352.4(CYP4V2):c.414-1G>A rs767779208 0.00015
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000313.4(PROS1):c.1747A>C (p.Asn583His) rs139479630 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000440.3(PDE6A):c.998C>T (p.Pro333Leu) rs368428076 0.00014
NM_000539.3(RHO):c.1019C>T (p.Thr340Met) rs148748781 0.00014
NM_001122769.3(LCA5):c.521G>A (p.Arg174His) rs144016257 0.00014
NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile) rs377666612 0.00014
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001330691.3(CEP78):c.1214C>T (p.Pro405Leu) rs539146413 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870 0.00014
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_005869.4(CWC27):c.1075G>A (p.Glu359Lys) rs140490454 0.00014
NM_006269.2(RP1):c.3589A>G (p.Ser1197Gly) rs201446128 0.00014
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282 0.00014
NM_012338.4(TSPAN12):c.334G>A (p.Val112Ile) rs143445702 0.00014
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_015909.4(NBAS):c.5251A>G (p.Ile1751Val) rs760807984 0.00014
NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly) rs376502749 0.00014
NM_020461.4(TUBGCP6):c.1223C>T (p.Thr408Met) rs371357025 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser) rs145353541 0.00014
NM_033100.4(CDHR1):c.1445C>T (p.Pro482Leu) rs375576650 0.00014
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) rs762606406 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) rs373190681 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000188.3(HK1):c.2633C>T (p.Thr878Met) rs150481224 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) rs370988040 0.00013
NM_001098.3(ACO2):c.2282C>T (p.Thr761Met) rs142767544 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg) rs201088869 0.00013
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558 0.00013
NM_002242.4(KCNJ13):c.485G>A (p.Arg162Gln) rs757304681 0.00013
NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys) rs139637557 0.00013
NM_004183.4(BEST1):c.1193C>T (p.Ser398Phe) rs199890510 0.00013
NM_006269.2(RP1):c.2005G>A (p.Ala669Thr) rs201725231 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_015072.5(TTLL5):c.2357A>T (p.Glu786Val) rs372279209 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_052844.4(DYNC2I2):c.988C>T (p.Arg330Cys) rs200271161 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val) rs200854148 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser) rs199766341 0.00012
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) rs202065765 0.00012
NM_002900.3(RBP3):c.2021G>A (p.Arg674His) rs373691531 0.00012
NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr) rs146153708 0.00012
NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) rs368898051 0.00012
NM_004183.4(BEST1):c.1215G>A (p.Arg405=) rs751740475 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_006343.3(MERTK):c.1216A>G (p.Met406Val) rs377752022 0.00012
NM_006343.3(MERTK):c.2069C>T (p.Thr690Ile) rs139822416 0.00012
NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr) rs199564404 0.00012
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) rs201806410 0.00012
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00012
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618 0.00012
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile) rs140094683 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly) rs77797012 0.00012
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000330.4(RS1):c.150G>T (p.Trp50Cys) rs200866925 0.00011
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.3191-19G>A rs371455065 0.00011
NM_000539.3(RHO):c.959C>A (p.Thr320Asn) rs138831590 0.00011
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys) rs374283240 0.00011
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00011
NM_001142800.2(EYS):c.1466A>T (p.Glu489Val) rs140518088 0.00011
NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe) rs138123230 0.00011
NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp) rs549755324 0.00011
NM_001312673.2(PCYT1A):c.117+5G>A rs375529354 0.00011
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001379286.1(ZNF423):c.1132G>A (p.Ala378Thr) rs199760788 0.00011
NM_002098.6(GUCA1B):c.386G>A (p.Arg129Gln) rs150562239 0.00011
NM_002497.4(NEK2):c.1307T>C (p.Leu436Pro) rs202099146 0.00011
NM_002497.4(NEK2):c.50G>A (p.Gly17Asp) rs371921288 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003835.4(RGS9):c.296G>A (p.Ser99Asn) rs199644053 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_006744.4(RBP4):c.24G>T (p.Leu8Phe) rs11546956 0.00011
NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg) rs563014885 0.00011
NM_015662.3(IFT172):c.2159G>A (p.Arg720His) rs202089120 0.00011
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser) rs369780709 0.00011
NM_018191.4(RCBTB1):c.146A>G (p.Asn49Ser) rs376586330 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004 0.00011
NM_033100.4(CDHR1):c.1453G>A (p.Ala485Thr) rs532268197 0.00011
NM_144643.4(SCLT1):c.539A>G (p.Gln180Arg) rs142407438 0.00011
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_172364.5(CACNA2D4):c.2515G>T (p.Ala839Ser) rs756604812 0.00011
NM_178857.6(RP1L1):c.71C>T (p.Thr24Ile) rs771358254 0.00011
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala) rs138436479 0.00011
NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn) rs748833924 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu) rs141339026 0.00011
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000283.4(PDE6B):c.1923C>T (p.Thr641=) rs1162577076 0.00010
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000327.4(ROM1):c.629A>T (p.Asp210Val) rs200287184 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn) rs374847529 0.00010
NM_000539.3(RHO):c.361+10G>A rs372128112 0.00010
NM_001039348.3(EFEMP1):c.637G>A (p.Val213Ile) rs369629631 0.00010
NM_001297.5(CNGB1):c.2134C>T (p.Arg712Cys) rs376051016 0.00010
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00010
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_001377.3(DYNC2H1):c.3539C>T (p.Thr1180Ile) rs368273539 0.00010
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr) rs368447956 0.00010
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys) rs142945423 0.00010
NM_003119.4(SPG7):c.619C>T (p.Arg207Trp) rs199751531 0.00010
NM_005869.4(CWC27):c.143A>G (p.Tyr48Cys) rs370593428 0.00010
NM_006269.2(RP1):c.2972A>G (p.Asp991Gly) rs202057087 0.00010
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) rs367922991 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu) rs752875047 0.00010
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys) rs529914770 0.00010
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val) rs375371982 0.00010
NM_019098.5(CNGB3):c.1811G>A (p.Arg604Gln) rs369526115 0.00010
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His) rs367592401 0.00010
NM_020461.4(TUBGCP6):c.856G>A (p.Ala286Thr) rs377471604 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_032119.4(ADGRV1):c.5351G>A (p.Arg1784Lys) rs748852381 0.00010
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_172364.5(CACNA2D4):c.892G>A (p.Val298Met) rs371792930 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_178857.6(RP1L1):c.549C>T (p.Gly183=) rs200762007 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.5714+4C>T rs376586802 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000440.3(PDE6A):c.1092G>A (p.Ala364=) rs774836540 0.00009
NM_000440.3(PDE6A):c.2248C>T (p.Arg750Cys) rs577146307 0.00009
NM_001017979.3(RAB28):c.22A>T (p.Ser8Cys) rs563578751 0.00009
NM_001122769.3(LCA5):c.1912A>G (p.Asn638Asp) rs371962473 0.00009
NM_001164665.2(KIAA1549):c.3523C>G (p.Leu1175Val) rs766057548 0.00009
NM_001170700.3(DTHD1):c.1306A>G (p.Lys436Glu) rs754906230 0.00009
NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp) rs183615774 0.00009
NM_001329556.3(REEP6):c.535C>T (p.Arg179Cys) rs529651864 0.00009
NM_001330691.3(CEP78):c.139G>A (p.Ala47Thr) rs770673349 0.00009
NM_001367823.1(ARHGEF18):c.1904A>G (p.Lys635Arg) rs201963103 0.00009
NM_001377.3(DYNC2H1):c.9655G>A (p.Glu3219Lys) rs376974461 0.00009
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_004523.4(KIF11):c.193A>G (p.Thr65Ala) rs200410468 0.00009
NM_005869.4(CWC27):c.867A>T (p.Leu289Phe) rs140234898 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_006017.3(PROM1):c.2471C>T (p.Ser824Leu) rs575302651 0.00009
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_006343.3(MERTK):c.1998G>T (p.Lys666Asn) rs757089087 0.00009
NM_012469.4(PRPF6):c.1305+11C>T rs190123178 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr) rs769420945 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_015072.5(TTLL5):c.1513A>G (p.Met505Val) rs781316021 0.00009
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=) rs187149431 0.00009
NM_015102.5(NPHP4):c.853C>T (p.Arg285Trp) rs201680615 0.00009
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys) rs755124987 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe) rs181052380 0.00009
NM_020366.4(RPGRIP1):c.2869G>A (p.Glu957Lys) rs199589566 0.00009
NM_020949.3(SLC7A14):c.2092G>A (p.Val698Met) rs375670950 0.00009
NM_021831.6(AGBL5):c.239G>A (p.Arg80Gln) rs373073782 0.00009
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe) rs199502924 0.00009
NM_032730.5(RTN4IP1):c.962G>C (p.Gly321Ala) rs145695118 0.00009
NM_032898.5(CEP19):c.93G>C (p.Gln31His) rs201359879 0.00009
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715 0.00009
NM_145200.5(CABP4):c.256G>A (p.Ala86Thr) rs757725571 0.00009
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 0.00009
NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg) rs767784152 0.00009
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr) rs372327495 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000283.4(PDE6B):c.700C>T (p.Arg234Cys) rs374915809 0.00008
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_000350.3(ABCA4):c.2843G>A (p.Arg948His) rs148545207 0.00008
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056 0.00008
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=) rs762632312 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00008
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00008
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_006269.2(RP1):c.160G>A (p.Val54Met) rs148458501 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_014014.5(SNRNP200):c.5432C>T (p.Ala1811Val) rs199511035 0.00008
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504 0.00008
NM_015072.5(TTLL5):c.526C>T (p.Pro176Ser) rs146224123 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_020949.3(SLC7A14):c.68A>G (p.His23Arg) rs201686079 0.00008
NM_024741.3(ZNF408):c.1346G>A (p.Arg449Gln) rs376401300 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg) rs767725140 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577 0.00008
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys) rs747951577 0.00007
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met) rs150742659 0.00007
NM_000313.4(PROS1):c.1043C>T (p.Ala348Val) rs769125007 0.00007
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670 0.00007
NM_000541.5(SAG):c.682G>A (p.Val228Met) rs377019945 0.00007
NM_001142800.2(EYS):c.380G>T (p.Gly127Val) rs201076128 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_001377.3(DYNC2H1):c.11287G>A (p.Ala3763Thr) rs780426783 0.00007
NM_001385641.1(SAMD11):c.904C>G (p.Pro302Ala) rs144490434 0.00007
NM_001621.5(AHR):c.1282C>T (p.Pro428Ser) rs750208257 0.00007
NM_002242.4(KCNJ13):c.1043T>C (p.Ile348Thr) rs545594184 0.00007
NM_003322.6(TULP1):c.999+11A>C rs369348233 0.00007
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn) rs201831309 0.00007
NM_005559.4(LAMA1):c.7897G>A (p.Gly2633Arg) rs769644598 0.00007
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) rs201870277 0.00007
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) rs145108467 0.00007
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln) rs200426430 0.00007
NM_014053.4(FLVCR1):c.133G>A (p.Gly45Ser) rs532977695 0.00007
NM_015047.3(EMC1):c.61G>A (p.Ala21Thr) rs11558182 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_020366.4(RPGRIP1):c.2669G>A (p.Arg890Gln) rs374913550 0.00007
NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu) rs201943133 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.6646-11T>G rs1431021703 0.00007
NM_033100.4(CDHR1):c.1554-3C>A rs377416569 0.00007
NM_133497.4(KCNV2):c.1144A>T (p.Met382Leu) rs757516625 0.00007
NM_144631.6(ZNF513):c.787C>T (p.Arg263Trp) rs371894255 0.00007
NM_145290.4(ADGRA3):c.3233A>G (p.Asn1078Ser) rs370347164 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_173477.5(USH1G):c.955A>G (p.Arg319Gly) rs780717575 0.00007
NM_174878.3(CLRN1):c.401C>T (p.Pro134Leu) rs768357756 0.00007
NM_178857.6(RP1L1):c.236G>A (p.Arg79His) rs373251905 0.00007
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln) rs201630132 0.00007
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn) rs778199517 0.00007
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala) rs143711287 0.00007
NM_207391.3(RGS9BP):c.583T>G (p.Ser195Ala) rs777069518 0.00007
NM_000064.4(C3):c.1988C>G (p.Pro663Arg) rs112187261 0.00006
NM_000064.4(C3):c.2441-7C>T rs372528487 0.00006
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_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) rs752365478 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410 0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_000350.3(ABCA4):c.3637C>T (p.Leu1213Phe) rs142882518 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000440.3(PDE6A):c.2479A>C (p.Lys827Gln) rs780450680 0.00006
NM_000539.3(RHO):c.505G>A (p.Ala169Thr) rs377687329 0.00006
NM_000554.6(CRX):c.590C>T (p.Pro197Leu) rs761290111 0.00006
NM_000883.4(IMPDH1):c.1675C>T (p.Arg559Cys) rs777346676 0.00006
NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser) rs768563605 0.00006
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) rs201916371 0.00006
NM_001142800.2(EYS):c.6410G>A (p.Arg2137His) rs369090261 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001164665.2(KIAA1549):c.5590A>G (p.Arg1864Gly) rs377654979 0.00006
NM_001195263.2(PDZD7):c.1747C>T (p.Arg583Trp) rs972518774 0.00006
NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg) rs763165985 0.00006
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val) rs763332859 0.00006
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_001385641.1(SAMD11):c.1552C>T (p.Arg518Trp) rs367769858 0.00006
NM_001563.4(IMPG1):c.169A>G (p.Met57Val) rs748112840 0.00006
NM_001903.5(CTNNA1):c.1304A>G (p.Asn435Ser) rs752913534 0.00006
NM_002900.3(RBP3):c.2498G>A (p.Arg833His) rs200783520 0.00006
NM_003322.6(TULP1):c.296A>G (p.Lys99Arg) rs145518705 0.00006
NM_003611.3(OFD1):c.451C>T (p.His151Tyr) rs137993158 0.00006
NM_003816.3(ADAM9):c.2400G>T (p.Gln800His) rs145276865 0.00006
NM_004055.5(CAPN5):c.949G>A (p.Val317Met) rs782495056 0.00006
NM_004523.4(KIF11):c.2316T>G (p.Phe772Leu) rs202150514 0.00006
NM_004928.3(CFAP410):c.224C>T (p.Pro75Leu) rs778987436 0.00006
NM_005802.5(TOPORS):c.1525A>G (p.Lys509Glu) rs145465262 0.00006
NM_006204.4(PDE6C):c.1979C>G (p.Thr660Arg) rs767703174 0.00006
NM_006269.2(RP1):c.5123C>T (p.Ala1708Val) rs373678545 0.00006
NM_007186.6(CEP250):c.5963C>T (p.Ala1988Val) rs140286792 0.00006
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) rs200196832 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_014249.4(NR2E3):c.645C>T (p.Cys215=) rs375133059 0.00006
NM_014249.4(NR2E3):c.953C>T (p.Thr318Met) rs755224888 0.00006
NM_014285.7(EXOSC2):c.616T>C (p.Tyr206His) rs373884838 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014714.4(IFT140):c.2944C>T (p.Arg982Trp) rs142342085 0.00006
NM_014855.3(AP5Z1):c.628C>T (p.Pro210Ser) rs773542837 0.00006
NM_015404.4(WHRN):c.695A>C (p.His232Pro) rs533374297 0.00006
NM_015629.4(PRPF31):c.251T>C (p.Val84Ala) rs369049017 0.00006
NM_015909.4(NBAS):c.4337G>A (p.Arg1446Gln) rs139721454 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_018474.6(KIZ):c.1382C>T (p.Pro461Leu) rs758224894 0.00006
NM_020461.4(TUBGCP6):c.1789G>A (p.Val597Ile) rs201914434 0.00006
NM_020949.3(SLC7A14):c.1705G>A (p.Val569Met) rs147231592 0.00006
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.8426G>A (p.Arg2809His) rs780409612 0.00006
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) rs200733236 0.00006
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_031433.4(MFRP):c.1258C>G (p.Pro420Ala) rs767917702 0.00006
NM_031475.3(ESPN):c.338G>A (p.Arg113His) rs367832657 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_033100.4(CDHR1):c.1843G>A (p.Glu615Lys) rs144856473 0.00006
NM_130837.3(OPA1):c.869G>A (p.Arg290Gln) rs765118029 0.00006
NM_172240.3(POC1B):c.810+1G>T rs587777694 0.00006
NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu) rs536817048 0.00006
NM_178857.6(RP1L1):c.4610C>T (p.Ala1537Val) rs375128393 0.00006
NM_205861.3(DHDDS):c.761T>C (p.Leu254Pro) rs755439760 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.12358C>T (p.Arg4120Cys) rs727503718 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) rs754774098 0.00006
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000274.4(OAT):c.649C>T (p.Arg217Cys) rs370970194 0.00005
NM_000278.5(PAX2):c.739C>T (p.Arg247Cys) rs756570535 0.00005
NM_000327.4(ROM1):c.671C>T (p.Pro224Leu) rs781488213 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe) rs372508062 0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000539.3(RHO):c.178T>C (p.Tyr60His) rs771007146 0.00005
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter) rs62638624 0.00005
NM_001004334.4(GPR179):c.175G>A (p.Ala59Thr) rs200157347 0.00005
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln) rs749038401 0.00005
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu) rs149823162 0.00005
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001297.5(CNGB1):c.610G>A (p.Gly204Arg) rs201654405 0.00005
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met) rs552553452 0.00005
NM_001319074.4(RAX2):c.236G>A (p.Arg79Gln) rs779301810 0.00005
NM_001377.3(DYNC2H1):c.12578G>A (p.Arg4193His) rs201699865 0.00005
NM_001377.3(DYNC2H1):c.2974G>A (p.Asp992Asn) rs200222210 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_003322.6(TULP1):c.538C>T (p.Arg180Cys) rs139588263 0.00005
NM_005802.5(TOPORS):c.715C>A (p.Pro239Thr) rs373410505 0.00005
NM_005869.4(CWC27):c.275G>A (p.Arg92His) rs568150813 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) rs143494598 0.00005
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) rs377360782 0.00005
NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr) rs761437016 0.00005
NM_006915.3(RP2):c.8G>C (p.Cys3Ser) rs782344765 0.00005
NM_007348.4(ATF6):c.77A>G (p.Asp26Gly) rs747873305 0.00005
NM_012193.4(FZD4):c.379C>T (p.Arg127Cys) rs376854255 0.00005
NM_014336.5(AIPL1):c.1054_1065dup (p.Ala352_Pro355dup) rs776145713 0.00005
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys) rs774690522 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_015072.5(TTLL5):c.3104G>A (p.Arg1035Gln) rs767213119 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375 0.00005
NM_019098.5(CNGB3):c.2342G>A (p.Arg781His) rs772444831 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_020461.4(TUBGCP6):c.3352G>A (p.Gly1118Arg) rs574080138 0.00005
NM_021620.4(PRDM13):c.2020C>G (p.Pro674Ala) rs771065982 0.00005
NM_022124.6(CDH23):c.7838G>A (p.Arg2613His) rs768688999 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met) rs377173958 0.00005
NM_130837.3(OPA1):c.-3G>A rs964787052 0.00005
NM_145200.5(CABP4):c.478A>G (p.Thr160Ala) rs200254813 0.00005
NM_172240.3(POC1B):c.1079_1080del (p.Pro360fs) rs774472777 0.00005
NM_172364.5(CACNA2D4):c.2260G>A (p.Val754Met) rs373032354 0.00005
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile) rs3796241 0.00005
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile) rs142649882 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283 0.00005
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter) rs199476189 0.00005
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln) rs147166962 0.00004
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln) rs745426085 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.5G>C (p.Arg2Thr) rs142266551 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000283.4(PDE6B):c.1804C>T (p.Arg602Cys) rs754298498 0.00004
NM_000283.4(PDE6B):c.2274G>C (p.Met758Ile) rs140857147 0.00004
NM_000283.4(PDE6B):c.2281C>T (p.Arg761Trp) rs756653121 0.00004
NM_000313.4(PROS1):c.1816G>A (p.Val606Ile) rs371885410 0.00004
NM_000327.4(ROM1):c.859C>T (p.Arg287Trp) rs768652143 0.00004
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_000350.3(ABCA4):c.3830C>T (p.Thr1277Met) rs374565343 0.00004
NM_000350.3(ABCA4):c.3974C>T (p.Pro1325Leu) rs371582683 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_000350.3(ABCA4):c.5479G>A (p.Ala1827Thr) rs530098237 0.00004
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val) rs369973540 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643 0.00004
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu) rs374851665 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298 0.00004
NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe) rs201535083 0.00004
NM_000440.3(PDE6A):c.305G>A (p.Arg102His) rs750539462 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_000539.3(RHO):c.625G>A (p.Val209Met) rs567288669 0.00004
NM_000539.3(RHO):c.660T>G (p.Phe220Leu) rs141956356 0.00004
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000554.6(CRX):c.335C>T (p.Ala112Val) rs61748439 0.00004
NM_000554.6(CRX):c.568C>T (p.Pro190Ser) rs151169551 0.00004
NM_001029883.3(PCARE):c.3589C>T (p.Arg1197Cys) rs369031088 0.00004
NM_001034853.2(RPGR):c.1508C>G (p.Thr503Arg) rs374555833 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp) rs146904462 0.00004
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=) rs567306113 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001164665.2(KIAA1549):c.647C>T (p.Thr216Met) rs145518942 0.00004
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001201543.2(FAM161A):c.1568G>A (p.Arg523Gln) rs767768523 0.00004
NM_001252024.2(TRPM1):c.2849G>A (p.Arg950Gln) rs766396216 0.00004
NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile) rs757827406 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173 0.00004
NM_001319074.4(RAX2):c.92G>A (p.Arg31His) rs373009969 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001382391.1(CSPP1):c.484-4A>G rs142440392 0.00004
NM_001793.6(CDH3):c.2240G>A (p.Arg747Gln) rs772291014 0.00004
NM_001793.6(CDH3):c.448G>A (p.Ala150Thr) rs148231483 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) rs201185969 0.00004
NM_002900.3(RBP3):c.3388+4C>T rs375541479 0.00004
NM_002900.3(RBP3):c.509G>A (p.Arg170Gln) rs782671340 0.00004
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) rs777094000 0.00004
NM_003322.6(TULP1):c.853C>G (p.Pro285Ala) rs202027935 0.00004
NM_003835.4(RGS9):c.1765G>A (p.Gly589Ser) rs201578421 0.00004
NM_004055.5(CAPN5):c.185G>A (p.Arg62His) rs199504989 0.00004
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) rs121918286 0.00004
NM_004183.4(BEST1):c.830C>T (p.Thr277Met) rs775791299 0.00004
NM_004727.3(SLC24A1):c.2980G>A (p.Ala994Thr) rs200052767 0.00004
NM_004928.3(CFAP410):c.323G>A (p.Arg108His) rs754351767 0.00004
NM_005559.4(LAMA1):c.3110C>T (p.Ala1037Val) rs149260074 0.00004
NM_005559.4(LAMA1):c.944C>T (p.Pro315Leu) rs201386303 0.00004
NM_005802.5(TOPORS):c.17C>T (p.Pro6Leu) rs775421403 0.00004
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) rs778896066 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.659C>G (p.Ala220Gly) rs146962542 0.00004
NM_006744.4(RBP4):c.109C>G (p.Arg37Gly) rs759820276 0.00004
NM_006899.5(IDH3B):c.118-6A>G rs532273295 0.00004
NM_007186.6(CEP250):c.1555C>T (p.Arg519Trp) rs369614541 0.00004
NM_012106.4(ARL2BP):c.250C>T (p.Arg84Trp) rs150513555 0.00004
NM_012193.4(FZD4):c.330C>G (p.Ile110Met) rs370591370 0.00004
NM_012469.4(PRPF6):c.2755A>G (p.Ile919Val) rs149771221 0.00004
NM_014249.4(NR2E3):c.677G>A (p.Arg226His) rs544290323 0.00004
NM_014263.4(YME1L1):c.535G>A (p.Val179Met) rs199840538 0.00004
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser) rs201849591 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_015047.3(EMC1):c.1846C>T (p.Pro616Ser) rs750940846 0.00004
NM_015047.3(EMC1):c.2264C>T (p.Thr755Ile) rs200674851 0.00004
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015404.4(WHRN):c.724C>T (p.Arg242Cys) rs372265292 0.00004
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala) rs553301895 0.00004
NM_015909.4(NBAS):c.7022C>T (p.Ala2341Val) rs749416685 0.00004
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys) rs201361648 0.00004
NM_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465 0.00004
NM_020461.4(TUBGCP6):c.3869C>T (p.Thr1290Ile) rs772567265 0.00004
NM_020949.3(SLC7A14):c.1727T>A (p.Met576Lys) rs200211446 0.00004
NM_021831.6(AGBL5):c.2096G>A (p.Arg699Gln) rs778548414 0.00004
NM_021831.6(AGBL5):c.2104G>A (p.Asp702Asn) rs374424856 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022367.4(SEMA4A):c.592A>G (p.Met198Val) rs754739313 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) rs368510687 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00004
NM_031433.4(MFRP):c.201G>A (p.Trp67Ter) rs150232843 0.00004
NM_031433.4(MFRP):c.511G>A (p.Val171Met) rs372117205 0.00004
NM_031475.3(ESPN):c.493G>A (p.Val165Met) rs867037570 0.00004
NM_032119.4(ADGRV1):c.12379G>A (p.Glu4127Lys) rs372601452 0.00004
NM_033100.4(CDHR1):c.601G>A (p.Glu201Lys) rs200646223 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_145290.4(ADGRA3):c.3488G>A (p.Arg1163Gln) rs771076973 0.00004
NM_145698.5(ACBD5):c.287T>C (p.Ile96Thr) rs767839534 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.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_172364.5(CACNA2D4):c.2552-1G>A rs920314861 0.00004
NM_177972.3(TUB):c.641A>G (p.Asn214Ser) rs369363661 0.00004
NM_178857.6(RP1L1):c.194T>C (p.Met65Thr) rs377036512 0.00004
NM_198506.5(LRIT3):c.1286G>A (p.Ser429Asn) rs201714421 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201548.5(CERKL):c.1159+8G>A rs201778792 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.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu) rs758660532 0.00004
NM_206933.4(USH2A):c.15369C>T (p.Val5123=) rs142939648 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NM_000064.4(C3):c.4520G>A (p.Arg1507His) rs551187980 0.00003
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000188.3(HK1):c.1561G>A (p.Asp521Asn) rs762992945 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) rs121965057 0.00003
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000283.4(PDE6B):c.704G>A (p.Arg235His) rs757918699 0.00003
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859 0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.1937+1G>A rs61752401 0.00003
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met) rs61749426 0.00003
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) rs61750121 0.00003
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.4327C>T (p.Arg1443Cys) rs533422156 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4539+2001G>A rs1457937638 0.00003
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=) rs751844313 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_000440.3(PDE6A):c.998+1G>A rs748946491 0.00003
NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met) rs201001000 0.00003
NM_001029883.3(PCARE):c.1550C>T (p.Ser517Leu) rs753527026 0.00003
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala) rs769641256 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr) rs202192219 0.00003
NM_001252024.2(TRPM1):c.3127+1G>A rs749930261 0.00003
NM_001256789.3(CACNA1F):c.1717G>A (p.Gly573Ser) rs782016284 0.00003
NM_001256789.3(CACNA1F):c.4481G>T (p.Cys1494Phe) rs782025685 0.00003
NM_001256789.3(CACNA1F):c.5447G>A (p.Arg1816Gln) rs372426153 0.00003
NM_001297.5(CNGB1):c.1208A>G (p.Gln403Arg) rs1478593744 0.00003
NM_001297.5(CNGB1):c.2555C>T (p.Pro852Leu) rs768202610 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001298.3(CNGA3):c.1706G>A (p.Arg569His) rs201782746 0.00003
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) rs374258471 0.00003
NM_001330691.3(CEP78):c.1810A>G (p.Met604Val) rs771920596 0.00003
NM_001349884.2(DRAM2):c.719A>G (p.Asn240Ser) rs761405900 0.00003
NM_001367823.1(ARHGEF18):c.1003T>C (p.Ser335Pro) rs749679794 0.00003
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His) rs748624161 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) rs199831541 0.00003
NM_001385641.1(SAMD11):c.1648G>C (p.Gly550Arg) rs773665411 0.00003
NM_001563.4(IMPG1):c.1982G>A (p.Arg661His) rs200128845 0.00003
NM_001844.5(COL2A1):c.3970G>A (p.Val1324Ile) rs755207565 0.00003
NM_002075.4(GNB3):c.200C>T (p.Ser67Phe) rs140263599 0.00003
NM_003322.6(TULP1):c.263A>G (p.Tyr88Cys) rs762751444 0.00003
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln) rs1805142 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_004698.4(PRPF3):c.1985A>G (p.Lys662Arg) rs782229642 0.00003
NM_005530.3(IDH3A):c.550T>C (p.Phe184Leu) rs1259883219 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006204.4(PDE6C):c.1956C>A (p.Asn652Lys) rs370842108 0.00003
NM_006343.3(MERTK):c.1441C>T (p.Pro481Ser) rs781442827 0.00003
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp) rs780168150 0.00003
NM_007186.6(CEP250):c.1894A>G (p.Arg632Gly) rs754556013 0.00003
NM_007186.6(CEP250):c.3401C>T (p.Thr1134Met) rs545422424 0.00003
NM_007186.6(CEP250):c.6532C>T (p.Leu2178Phe) rs369913865 0.00003
NM_012193.4(FZD4):c.662T>C (p.Ile221Thr) rs747931382 0.00003
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr) rs145551546 0.00003
NM_014956.5(CEP164):c.1598C>T (p.Pro533Leu) rs761621131 0.00003
NM_014956.5(CEP164):c.2326C>T (p.Arg776Trp) rs377437628 0.00003
NM_015047.3(EMC1):c.602A>G (p.Lys201Arg) rs201268650 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015662.3(IFT172):c.336G>A (p.Thr112=) rs1158316267 0.00003
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val) rs376824384 0.00003
NM_015909.4(NBAS):c.5227A>G (p.Met1743Val) rs535474853 0.00003
NM_016247.4(IMPG2):c.2485G>A (p.Asp829Asn) rs754615164 0.00003
NM_016247.4(IMPG2):c.3263G>A (p.Arg1088Gln) rs531246692 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_020461.4(TUBGCP6):c.1413-5T>G rs369896334 0.00003
NM_020461.4(TUBGCP6):c.1441G>A (p.Ala481Thr) rs750355124 0.00003
NM_020949.3(SLC7A14):c.2047G>A (p.Ala683Thr) rs777189956 0.00003
NM_021831.6(AGBL5):c.91G>C (p.Asp31His) rs1284161656 0.00003
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) rs373273223 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025132.4(WDR19):c.1114G>A (p.Val372Ile) rs184326673 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_032119.4(ADGRV1):c.10570C>A (p.Gln3524Lys) rs766464017 0.00003
NM_032119.4(ADGRV1):c.14864A>G (p.Gln4955Arg) rs1407523233 0.00003
NM_032119.4(ADGRV1):c.16225C>T (p.Arg5409Ter) rs199806093 0.00003
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile) rs759954556 0.00003
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His) rs372054380 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_033100.4(CDHR1):c.628G>A (p.Val210Met) rs774747506 0.00003
NM_052844.4(DYNC2I2):c.173T>G (p.Ile58Ser) rs763670176 0.00003
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter) rs139027297 0.00003
NM_145200.5(CABP4):c.725C>T (p.Pro242Leu) rs758186712 0.00003
NM_145290.4(ADGRA3):c.1558C>T (p.Arg520Cys) rs748176960 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_152443.3(RDH12):c.194G>A (p.Arg65Gln) rs745471670 0.00003
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter) rs1349849938 0.00003
NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu) rs374742856 0.00003
NM_153240.5(NPHP3):c.2170C>T (p.Arg724Cys) rs542131508 0.00003
NM_170784.3(MKKS):c.464G>A (p.Arg155His) rs138111422 0.00003
NM_172240.3(POC1B):c.14C>A (p.Thr5Lys) rs202178815 0.00003
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_199355.4(ADAMTS18):c.194C>T (p.Thr65Met) rs745612415 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys) rs145647517 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_207391.3(RGS9BP):c.365C>G (p.Ser122Cys) rs749927570 0.00003
NM_000180.4(GUCY2D):c.2172G>A (p.Thr724=) rs760472338 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000274.4(OAT):c.46C>T (p.Arg16Cys) rs778757920 0.00002
NM_000283.4(PDE6B):c.1366G>A (p.Val456Met) rs376028657 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1654C>T (p.Arg552Trp) rs1201231261 0.00002
NM_000283.4(PDE6B):c.1655G>A (p.Arg552Gln) rs751859807 0.00002
NM_000283.4(PDE6B):c.2206G>A (p.Val736Met) rs779518964 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000326.5(RLBP1):c.212A>G (p.Gln71Arg) rs913607874 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136 0.00002
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000350.3(ABCA4):c.3610G>A (p.Asp1204Asn) rs61750127 0.00002
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=) rs139109485 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.4402C>G (p.Pro1468Ala) rs775082837 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000350.3(ABCA4):c.5069T>C (p.Met1690Thr) rs1333985048 0.00002
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363 0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537 0.00002
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) rs886044763 0.00002
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_000440.3(PDE6A):c.2525C>T (p.Pro842Leu) rs542180384 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000554.6(CRX):c.21G>A (p.Pro7=) rs772745666 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001012720.2(RGR):c.296C>T (p.Ala99Val) rs773435796 0.00002
NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln) rs746749375 0.00002
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) rs387907268 0.00002
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser) rs1010982936 0.00002
NM_001142800.2(EYS):c.5484A>C (p.Lys1828Asn) rs996239133 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His) rs775319351 0.00002
NM_001256789.3(CACNA1F):c.19G>A (p.Gly7Arg) rs938364029 0.00002
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His) rs764107600 0.00002
NM_001297.5(CNGB1):c.3305G>A (p.Arg1102Gln) rs368987059 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001330691.3(CEP78):c.691C>T (p.Arg231Cys) rs776232414 0.00002
NM_001377.3(DYNC2H1):c.11887A>G (p.Ser3963Gly) rs373776864 0.00002
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) rs754414120 0.00002
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795 0.00002
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.5971T>G (p.Ser1991Ala) rs777227174 0.00002
NM_001378615.1(CC2D2A):c.566A>G (p.Glu189Gly) rs762024789 0.00002
NM_001379286.1(ZNF423):c.2782C>T (p.Arg928Cys) rs201335350 0.00002
NM_001563.4(IMPG1):c.1882T>C (p.Phe628Leu) rs756434628 0.00002
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln) rs765231668 0.00002
NM_001854.4(COL11A1):c.2276C>T (p.Pro759Leu) rs749290763 0.00002
NM_002900.3(RBP3):c.1328G>A (p.Arg443His) rs781844060 0.00002
NM_002900.3(RBP3):c.3026A>T (p.Asp1009Val) rs781946449 0.00002
NM_002905.5(RDH5):c.632_633del (p.Pro211fs) rs763855790 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_004055.5(CAPN5):c.971+6T>C rs782006156 0.00002
NM_004183.4(BEST1):c.102C>T (p.Gly34=) rs771898125 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004183.4(BEST1):c.604C>T (p.Arg202Trp) rs765998048 0.00002
NM_004727.3(SLC24A1):c.3051-9A>G rs774208027 0.00002
NM_004727.3(SLC24A1):c.55C>T (p.Arg19Trp) rs766449693 0.00002
NM_004928.3(CFAP410):c.96+6T>A rs758835278 0.00002
NM_006005.3(WFS1):c.2104G>A (p.Gly702Ser) rs71532862 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) rs372632641 0.00002
NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) rs1231060253 0.00002
NM_006017.3(PROM1):c.806C>T (p.Ala269Val) rs770901015 0.00002
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys) rs777275171 0.00002
NM_006269.2(RP1):c.3100C>G (p.His1034Asp) rs746848660 0.00002
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn) rs753732597 0.00002
NM_006343.3(MERTK):c.526A>C (p.Lys176Gln) rs776424157 0.00002
NM_006915.3(RP2):c.949G>A (p.Glu317Lys) rs782721235 0.00002
NM_007186.6(CEP250):c.5089C>T (p.Arg1697Trp) rs200384192 0.00002
NM_007186.6(CEP250):c.7318G>A (p.Ala2440Thr) rs748792917 0.00002
NM_012193.4(FZD4):c.1128G>T (p.Leu376Phe) rs773474310 0.00002
NM_012469.4(PRPF6):c.193G>A (p.Ala65Thr) rs771734100 0.00002
NM_014014.5(SNRNP200):c.3614C>T (p.Thr1205Met) rs376746667 0.00002
NM_014055.4(IFT81):c.1855C>T (p.Arg619Trp) rs188705157 0.00002
NM_014249.4(NR2E3):c.264G>T (p.Gly88=) rs558123422 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014425.5(INVS):c.2774G>A (p.Arg925His) rs370713515 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00002
NM_014989.7(RIMS1):c.1723C>T (p.Arg575Trp) rs767118962 0.00002
NM_015072.5(TTLL5):c.2029C>T (p.Arg677Ter) rs138370992 0.00002
NM_015662.3(IFT172):c.135A>T (p.Glu45Asp) rs1350745027 0.00002
NM_015909.4(NBAS):c.6071T>C (p.Val2024Ala) rs762515966 0.00002
NM_017739.4(POMGNT1):c.644G>A (p.Arg215Gln) rs770634205 0.00002
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter) rs775124094 0.00002
NM_019098.5(CNGB3):c.1433G>A (p.Arg478Gln) rs772270787 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.1663-1205G>A rs1000861056 0.00002
NM_019098.5(CNGB3):c.221C>T (p.Ser74Phe) rs762689312 0.00002
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020533.3(MCOLN1):c.362C>T (p.Thr121Met) rs750170007 0.00002
NM_022124.6(CDH23):c.2117A>G (p.Gln706Arg) rs868733212 0.00002
NM_022124.6(CDH23):c.2159G>A (p.Arg720Gln) rs768074758 0.00002
NM_022367.4(SEMA4A):c.1036A>G (p.Ile346Val) rs1325322725 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) rs781192528 0.00002
NM_024741.3(ZNF408):c.833A>G (p.Asn278Ser) rs371159153 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_031220.4(PITPNM3):c.2045G>T (p.Arg682Leu) rs759141007 0.00002
NM_031220.4(PITPNM3):c.950G>A (p.Arg317His) rs757430953 0.00002
NM_031433.4(MFRP):c.1148C>G (p.Pro383Arg) rs758398734 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) rs765376986 0.00002
NM_032119.4(ADGRV1):c.3838G>A (p.Asp1280Asn) rs184031236 0.00002
NM_033100.4(CDHR1):c.887A>C (p.Asn296Thr) rs764219118 0.00002
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys) rs530896300 0.00002
NM_133497.4(KCNV2):c.1408G>A (p.Gly470Ser) rs990370382 0.00002
NM_138773.4(SLC25A46):c.370C>T (p.Arg124Cys) rs750732884 0.00002
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_144643.4(SCLT1):c.367A>G (p.Ile123Val) rs147766080 0.00002
NM_145200.5(CABP4):c.230G>C (p.Gly77Ala) rs748865845 0.00002
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter) rs531851447 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_172240.3(POC1B):c.179A>G (p.Lys60Arg) rs768855674 0.00002
NM_172240.3(POC1B):c.404G>A (p.Arg135His) rs149976035 0.00002
NM_172240.3(POC1B):c.718G>T (p.Gly240Cys) rs1219460585 0.00002
NM_178857.6(RP1L1):c.353G>A (p.Arg118Gln) rs557203614 0.00002
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe) rs768713412 0.00002
NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter) rs748394238 0.00002
NM_201548.5(CERKL):c.497C>T (p.Pro166Leu) rs1344137236 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=) rs773859845 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val) rs768158580 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter) rs369063468 0.00002
NC_000006.12:g.99593111G>C rs1554264613 0.00001
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000188.3(HK1):c.1393G>A (p.Glu465Lys) rs780576140 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln) rs1462490364 0.00001
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.37G>C (p.Asp13His) rs1555051432 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) rs771889662 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 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_000274.4(OAT):c.49G>A (p.Gly17Arg) rs760716065 0.00001
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000283.4(PDE6B):c.2419T>C (p.Trp807Arg) rs121918583 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000321.3(RB1):c.2318C>T (p.Ser773Phe) rs267603841 0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys) rs1761910060 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.634A>C (p.Ser212Arg) rs61755800 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg) rs190761343 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser) rs61752887 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000330.4(RS1):c.221G>T (p.Gly74Val) rs104894933 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724 0.00001
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr) rs748487419 0.00001
NM_000350.3(ABCA4):c.1239+1G>C rs765707028 0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979 0.00001
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) rs886044725 0.00001
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter) rs886044727 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp) rs147932486 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln) rs761380652 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.2160+1G>T rs61749427 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu) rs542919944 0.00001
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406 0.00001
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.2654-8T>G rs765263670 0.00001
NM_000350.3(ABCA4):c.2919-10T>C rs886044733 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp) rs61750062 0.00001
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp) rs61752412 0.00001
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) rs765429911 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.3329-1G>A rs544428779 0.00001
NM_000350.3(ABCA4):c.3409A>G (p.Arg1137Gly) rs765328414 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739 0.00001
NM_000350.3(ABCA4):c.3953A>G (p.Asn1318Ser) rs960704174 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4253+4C>T rs61754044 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys) rs886044741 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) rs61750149 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4823A>G (p.His1608Arg) rs151145662 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000350.3(ABCA4):c.5645T>C (p.Met1882Thr) rs780817685 0.00001
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=) rs886044757 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln) rs886044759 0.00001
NM_000350.3(ABCA4):c.6282+1G>C rs770453727 0.00001
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000350.3(ABCA4):c.6499G>A (p.Val2167Ile) rs761087853 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.66+19G>A rs777949965 0.00001
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser) rs62645950 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000440.3(PDE6A):c.1607A>G (p.His536Arg) rs890622058 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000440.3(PDE6A):c.197G>A (p.Arg66Gln) rs753177050 0.00001
NM_000440.3(PDE6A):c.2254G>A (p.Val752Met) rs536549575 0.00001
NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile) rs746482403 0.00001
NM_000440.3(PDE6A):c.43T>A (p.Ser15Thr) rs1754417825 0.00001
NM_000466.3(PEX1):c.1277T>C (p.Met426Thr) rs780611674 0.00001
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile) rs183965018 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.124G>A (p.Ala42Thr) rs538820015 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000539.3(RHO):c.520G>A (p.Gly174Ser) rs527236103 0.00001
NM_000539.3(RHO):c.530+5T>C rs759637818 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000539.3(RHO):c.933G>A (p.Lys311=) rs139566602 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000554.6(CRX):c.140C>T (p.Thr47Ile) rs1203670123 0.00001
NM_000554.6(CRX):c.20C>T (p.Pro7Leu) rs558522333 0.00001
NM_000883.4(IMPDH1):c.1012C>T (p.Arg338Cys) rs776847595 0.00001
NM_000883.4(IMPDH1):c.1219C>T (p.Arg407Cys) rs758941308 0.00001
NM_000883.4(IMPDH1):c.1536G>A (p.Gln512=) rs572975271 0.00001
NM_000883.4(IMPDH1):c.799A>G (p.Arg267Gly) rs751763023 0.00001
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) rs748092776 0.00001
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter) rs773022324 0.00001
NM_001004334.4(GPR179):c.2992G>A (p.Ala998Thr) rs551318324 0.00001
NM_001017979.3(RAB28):c.245A>G (p.Tyr82Cys) rs773702140 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs) rs1196801124 0.00001
NM_001029883.3(PCARE):c.2813G>A (p.Gly938Asp) rs1490916881 0.00001
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025 0.00001
NM_001029883.3(PCARE):c.3660C>T (p.Gly1220=) rs769772064 0.00001
NM_001034853.2(RPGR):c.778+5G>A rs62640583 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001127649.3(PEX26):c.698C>T (p.Pro233Leu) rs765734604 0.00001
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001142800.2(EYS):c.3877+6T>C rs937888425 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met) rs765829827 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.5054C>G (p.Ser1685Ter) rs1293996279 0.00001
NM_001142800.2(EYS):c.5186A>C (p.Lys1729Thr) rs1378944082 0.00001
NM_001142800.2(EYS):c.5319_5342del (p.Asn1773_Val1781delinsLys) rs1447628856 0.00001
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg) rs753945993 0.00001
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.8233+8T>G rs886061666 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001142800.2(EYS):c.96G>A (p.Trp32Ter) rs1388177618 0.00001
NM_001164665.2(KIAA1549):c.475A>G (p.Asn159Asp) rs761737159 0.00001
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001
NM_001170700.3(DTHD1):c.1582A>G (p.Ile528Val) rs1215637414 0.00001
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His) rs761433545 0.00001
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro) rs72653798 0.00001
NM_001201543.2(FAM161A):c.1111G>T (p.Asp371Tyr) rs752075492 0.00001
NM_001242957.3(MAK):c.1238A>G (p.Tyr413Cys) rs200944697 0.00001
NM_001242957.3(MAK):c.1618A>G (p.Ile540Val) rs374286792 0.00001
NM_001242957.3(MAK):c.37G>A (p.Gly13Ser) rs387906647 0.00001
NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu) rs587777599 0.00001
NM_001252024.2(TRPM1):c.3646A>G (p.Met1216Val) rs373111126 0.00001
NM_001252024.2(TRPM1):c.494-1G>C rs760391688 0.00001
NM_001252024.2(TRPM1):c.84-3C>G rs751427833 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys) rs202044896 0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678 0.00001
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) rs104893680 0.00001
NM_001297.5(CNGB1):c.160C>A (p.Pro54Thr) rs200557535 0.00001
NM_001297.5(CNGB1):c.3077C>A (p.Ser1026Tyr) rs781682721 0.00001
NM_001298.3(CNGA3):c.1250T>C (p.Ile417Thr) rs750132405 0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg) rs764918448 0.00001
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) rs104893612 0.00001
NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys) rs757650055 0.00001
NM_001312673.2(PCYT1A):c.418C>T (p.Arg140Cys) rs771371499 0.00001
NM_001319074.4(RAX2):c.134C>T (p.Ala45Val) rs775581464 0.00001
NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp) rs1042726781 0.00001
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser) rs761661253 0.00001
NM_001349884.2(DRAM2):c.246T>G (p.Ser82Arg) rs772262465 0.00001
NM_001367823.1(ARHGEF18):c.2905-1G>T rs201797784 0.00001
NM_001367823.1(ARHGEF18):c.4019C>T (p.Ser1340Leu) rs769776144 0.00001
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu) rs760640742 0.00001
NM_001371596.2(MFSD8):c.706C>T (p.Arg236Cys) rs758002981 0.00001
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly) rs779029779 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg) rs1381524403 0.00001
NM_001379270.1(CNGA1):c.1258C>T (p.Arg420Ter) rs369717052 0.00001
NM_001379270.1(CNGA1):c.1867G>T (p.Val623Phe) rs758429898 0.00001
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln) rs371238926 0.00001
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala) rs754153035 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001563.4(IMPG1):c.802C>A (p.Leu268Ile) rs756720530 0.00001
NM_001621.5(AHR):c.1700C>G (p.Ser567Cys) rs769792376 0.00001
NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter) rs779888126 0.00001
NM_001793.6(CDH3):c.1507C>T (p.Arg503Cys) rs375040740 0.00001
NM_001793.6(CDH3):c.1508G>A (p.Arg503His) rs121434542 0.00001
NM_001793.6(CDH3):c.160+1G>A rs1474181679 0.00001
NM_001793.6(CDH3):c.2041C>T (p.Arg681Trp) rs752908359 0.00001
NM_001793.6(CDH3):c.2191C>T (p.Arg731Cys) rs139153891 0.00001
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) rs886043832 0.00001
NM_001851.6(COL9A1):c.437T>G (p.Ile146Ser) rs780230984 0.00001
NM_002098.6(GUCA1B):c.584G>A (p.Arg195Gln) rs771976584 0.00001
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) rs761131376 0.00001
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln) rs80358312 0.00001
NM_002335.4(LRP5):c.4099G>A (p.Glu1367Lys) rs28939709 0.00001
NM_002900.3(RBP3):c.1807G>A (p.Gly603Ser) rs202017297 0.00001
NM_002900.3(RBP3):c.1829G>C (p.Gly610Ala) rs781924662 0.00001
NM_002900.3(RBP3):c.2491G>A (p.Gly831Ser) rs782324558 0.00001
NM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser) rs782519239 0.00001
NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) rs200239015 0.00001
NM_002905.5(RDH5):c.833G>A (p.Arg278Gln) rs756680042 0.00001
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val) rs746668495 0.00001
NM_003322.6(TULP1):c.1132C>T (p.Arg378Cys) rs749599096 0.00001
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter) rs751589956 0.00001
NM_003322.6(TULP1):c.1528G>A (p.Ala510Thr) rs759749871 0.00001
NM_003835.4(RGS9):c.1925G>A (p.Gly642Glu) rs778574059 0.00001
NM_003835.4(RGS9):c.976+2T>C rs199537336 0.00001
NM_004055.5(CAPN5):c.1411A>C (p.Ile471Leu) rs782580306 0.00001
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288 0.00001
NM_004183.4(BEST1):c.274C>A (p.Arg92Ser) rs281865224 0.00001
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu) rs980876322 0.00001
NM_004183.4(BEST1):c.290A>G (p.Tyr97Cys) rs369484820 0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.56G>A (p.Arg19His) rs752923595 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.72G>A (p.Trp24Ter) rs281865213 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218 0.00001
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn) rs281865277 0.00001
NM_004523.4(KIF11):c.1494+10T>G rs779621928 0.00001
NM_004928.3(CFAP410):c.293C>T (p.Pro98Leu) rs749261239 0.00001
NM_004928.3(CFAP410):c.96+1G>A rs752137434 0.00001
NM_005654.6(NR2F1):c.1013C>T (p.Ala338Val) rs1192010938 0.00001
NM_005802.5(TOPORS):c.2704T>G (p.Ser902Ala) rs374744430 0.00001
NM_005869.4(CWC27):c.733G>C (p.Val245Leu) rs147540109 0.00001
NM_006005.3(WFS1):c.1540C>T (p.Leu514Phe) rs781498347 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 0.00001
NM_006017.3(PROM1):c.1651A>G (p.Lys551Glu) rs760815481 0.00001
NM_006017.3(PROM1):c.1730A>G (p.Asn577Ser) rs1448174401 0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00001
NM_006017.3(PROM1):c.401G>A (p.Arg134His) rs749128711 0.00001
NM_006017.3(PROM1):c.605G>A (p.Arg202Gln) rs200352674 0.00001
NM_006204.4(PDE6C):c.548C>T (p.Pro183Leu) rs753424342 0.00001
NM_006269.2(RP1):c.1096G>A (p.Glu366Lys) rs139214330 0.00001
NM_006269.2(RP1):c.367C>T (p.Arg123Cys) rs769522856 0.00001
NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter) rs1359338583 0.00001
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006269.2(RP1):c.74G>A (p.Arg25His) rs886062989 0.00001
NM_006269.2(RP1):c.809G>C (p.Ser270Thr) rs746650875 0.00001
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_006343.3(MERTK):c.2360G>A (p.Gly787Asp) rs747894786 0.00001
NM_006899.5(IDH3B):c.400C>G (p.Arg134Gly) rs757627319 0.00001
NM_006915.3(RP2):c.761T>C (p.Ile254Thr) rs1556318773 0.00001
NM_006944.3(SPP2):c.358G>A (p.Val120Met) rs141839502 0.00001
NM_006944.3(SPP2):c.591C>A (p.Tyr197Ter) rs750842592 0.00001
NM_007186.6(CEP250):c.5975G>A (p.Arg1992His) rs760800311 0.00001
NM_012062.5(DNM1L):c.1750C>G (p.Pro584Ala) rs745309773 0.00001
NM_012210.4(TRIM32):c.1162G>A (p.Ala388Thr) rs886042328 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_014003.4(DHX38):c.3485G>A (p.Arg1162His) rs372331694 0.00001
NM_014003.4(DHX38):c.3550C>T (p.Arg1184Ter) rs771877681 0.00001
NM_014003.4(DHX38):c.748A>T (p.Thr250Ser) rs202052654 0.00001
NM_014014.5(SNRNP200):c.1996C>T (p.Arg666Cys) rs200546584 0.00001
NM_014014.5(SNRNP200):c.6097G>A (p.Gly2033Arg) rs752450131 0.00001
NM_014053.4(FLVCR1):c.785A>G (p.Asn262Ser) rs547679833 0.00001
NM_014055.4(IFT81):c.1739G>A (p.Arg580His) rs757736289 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) rs786205493 0.00001
NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg) rs2054189787 0.00001
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp) rs767442358 0.00001
NM_014336.5(AIPL1):c.1028C>T (p.Pro343Leu) rs778794784 0.00001
NM_014336.5(AIPL1):c.239G>A (p.Arg80Gln) rs781282752 0.00001
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp) rs772357501 0.00001
NM_014714.4(IFT140):c.157G>A (p.Val53Met) rs776811329 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_014874.4(MFN2):c.541G>A (p.Val181Met) rs863224064 0.00001
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys) rs772514202 0.00001
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn) rs950631722 0.00001
NM_014989.7(RIMS1):c.2708G>A (p.Arg903Gln) rs776822598 0.00001
NM_014989.7(RIMS1):c.3281T>G (p.Leu1094Trp) rs761114297 0.00001
NM_015047.3(EMC1):c.1150C>T (p.Arg384Trp) rs759816328 0.00001
NM_015047.3(EMC1):c.1327T>C (p.Trp443Arg) rs371025215 0.00001
NM_015047.3(EMC1):c.314G>A (p.Arg105Gln) rs1345784060 0.00001
NM_015047.3(EMC1):c.336_338del (p.Asn113del) rs747568977 0.00001
NM_015047.3(EMC1):c.862C>T (p.Arg288Trp) rs751352541 0.00001
NM_015072.5(TTLL5):c.1453A>C (p.Ile485Leu) rs770110882 0.00001
NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln) rs765491333 0.00001
NM_015072.5(TTLL5):c.3158T>G (p.Leu1053Arg) rs776004403 0.00001
NM_015404.4(WHRN):c.1676A>G (p.Asn559Ser) rs772432304 0.00001
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) rs1411083098 0.00001
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr) rs780205001 0.00001
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu) rs146309780 0.00001
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter) rs376113678 0.00001
NM_015909.4(NBAS):c.4561G>C (p.Glu1521Gln) rs1036475904 0.00001
NM_015909.4(NBAS):c.6005A>G (p.His2002Arg) rs1041923869 0.00001
NM_015910.7(WDPCP):c.1798C>T (p.Arg600Cys) rs747517141 0.00001
NM_016026.4(RDH11):c.55A>G (p.Met19Val) rs748351968 0.00001
NM_016247.4(IMPG2):c.263G>T (p.Gly88Val) rs759521183 0.00001
NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys) rs781743972 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.676G>T (p.Glu226Ter) rs932467788 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp) rs546654268 0.00001
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_017739.4(POMGNT1):c.677C>T (p.Ser226Phe) rs147938876 0.00001
NM_018191.4(RCBTB1):c.139G>A (p.Gly47Arg) rs1344848137 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_018418.5(SPATA7):c.1427C>T (p.Ser476Leu) rs545998461 0.00001
NM_019098.5(CNGB3):c.1778T>G (p.Ile593Ser) rs780344162 0.00001
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter) rs761969118 0.00001
NM_019098.5(CNGB3):c.241G>A (p.Asp81Asn) rs148834016 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_020184.4(CNNM4):c.1690C>T (p.Gln564Ter) rs80100937 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2614A>G (p.Ile872Val) rs747355604 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020461.4(TUBGCP6):c.1108C>T (p.Leu370Phe) rs1297233801 0.00001
NM_020461.4(TUBGCP6):c.2158C>T (p.Arg720Cys) rs201277381 0.00001
NM_020461.4(TUBGCP6):c.3098G>A (p.Gly1033Asp) rs185642293 0.00001
NM_020461.4(TUBGCP6):c.4199G>A (p.Arg1400His) rs745344235 0.00001
NM_020949.3(SLC7A14):c.2290G>T (p.Asp764Tyr) rs756433410 0.00001
NM_020949.3(SLC7A14):c.848C>T (p.Thr283Met) rs749136940 0.00001
NM_021620.4(PRDM13):c.664G>C (p.Gly222Arg) rs751779599 0.00001
NM_021831.6(AGBL5):c.2348G>A (p.Arg783Gln) rs781286009 0.00001
NM_021831.6(AGBL5):c.961G>A (p.Val321Ile) rs755544280 0.00001
NM_022124.6(CDH23):c.1153A>T (p.Met385Leu) rs772474417 0.00001
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022124.6(CDH23):c.9943C>G (p.Leu3315Val) rs1442206473 0.00001
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp) rs762468169 0.00001
NM_022367.4(SEMA4A):c.686A>G (p.His229Arg) rs773774359 0.00001
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024685.4(BBS10):c.955G>C (p.Val319Leu) rs769233464 0.00001
NM_024741.3(ZNF408):c.1546C>T (p.Arg516Trp) rs754950117 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys) rs763605289 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_031220.4(PITPNM3):c.2474G>A (p.Arg825His) rs148826628 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_032119.4(ADGRV1):c.18025C>T (p.Arg6009Ter) rs1462031084 0.00001
NM_032119.4(ADGRV1):c.8390T>G (p.Val2797Gly) rs374346827 0.00001
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848 0.00001
NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly) rs763251067 0.00001
NM_033100.4(CDHR1):c.1720C>G (p.Pro574Ala) rs746501731 0.00001
NM_133497.4(KCNV2):c.1480A>C (p.Asn494His) rs566673245 0.00001
NM_133497.4(KCNV2):c.220G>A (p.Glu74Lys) rs756949524 0.00001
NM_133497.4(KCNV2):c.47G>T (p.Trp16Leu) rs1339778237 0.00001
NM_138773.4(SLC25A46):c.194G>C (p.Gly65Ala) rs1410055577 0.00001
NM_144499.3(GNAT1):c.231C>G (p.Ile77Met) rs754189877 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp) rs1413362477 0.00001
NM_144643.4(SCLT1):c.130G>A (p.Asp44Asn) rs149071636 0.00001
NM_144643.4(SCLT1):c.1613A>C (p.Gln538Pro) rs759187846 0.00001
NM_145200.5(CABP4):c.322G>A (p.Ala108Thr) rs199718669 0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.493+4C>T rs372471081 0.00001
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896 0.00001
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met) rs1287447019 0.00001
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) rs372933126 0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_153240.5(NPHP3):c.3936G>A (p.Thr1312=) rs754601686 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr) rs1401483166 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_172240.3(POC1B):c.1279G>A (p.Ala427Thr) rs777371599 0.00001
NM_172240.3(POC1B):c.592G>A (p.Gly198Ser) rs759047892 0.00001
NM_172364.5(CACNA2D4):c.1617G>C (p.Glu539Asp) rs767999612 0.00001
NM_172364.5(CACNA2D4):c.1940+5G>A rs374475309 0.00001
NM_172364.5(CACNA2D4):c.2055-1G>A rs749463003 0.00001
NM_172364.5(CACNA2D4):c.2134A>G (p.Lys712Glu) rs771911683 0.00001
NM_172364.5(CACNA2D4):c.2470+3A>G rs972139903 0.00001
NM_173477.5(USH1G):c.43G>C (p.Glu15Gln) rs757653096 0.00001
NM_177965.4(CFAP418):c.394T>C (p.Cys132Arg) rs1050414071 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.3194C>T (p.Pro1065Leu) rs774639195 0.00001
NM_178857.6(RP1L1):c.593C>T (p.Thr198Met) rs757917733 0.00001
NM_182916.3(TRNT1):c.33_46del (p.Leu13fs) rs763685455 0.00001
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_199355.4(ADAMTS18):c.2767C>A (p.Pro923Thr) rs868570004 0.00001
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 0.00001
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala) rs772386967 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) rs62635656 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.17G>T (p.Arg6Leu) rs758592149 0.00001
NM_201548.5(CERKL):c.652G>A (p.Glu218Lys) rs778306988 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941 0.00001
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718 0.00001
NM_206933.4(USH2A):c.10586-2A>G rs370327669 0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464 0.00001
NM_206933.4(USH2A):c.11389+2dup rs1414433033 0.00001
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu) rs1660298900 0.00001
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys) rs772969352 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu) rs1378799607 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly) rs772407116 0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys) rs1368683731 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9638C>T (p.Pro3213Leu) rs758383069 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_207352.4(CYP4V2):c.801+1G>A rs761362530 0.00001
NC_000001.11:g.(?_197268413-1)_(197268482+1_197328422-1)del
NC_000001.11:g.(?_46188718)_(46190785_46192097)del
NC_000001.11:g.(?_93993236)_(94005583_94007633)del
NC_000001.11:g.(?_93993236)_(94121046_?)del
NC_000002.12:g.(111929541_111944959)_(112028.865_?)del
NC_000002.12:g.(?_110123891)_(110204968_?)del
NC_000002.12:g.(?_110123891)_(110204968_?)dup
NC_000002.12:g.(?_111898735)_(111975473_111982841)del
NC_000002.12:g.(?_111898735)_(112028865_?)del
NC_000002.12:g.(?_96274999)_(96809530_?)del
NC_000003.12:g.(?_193593377)_(193593410_193614722)del
NC_000003.12:g.(?_193593498)_(193593498_193614983)del
NC_000003.12:g.(?_193593498)_(193618878_193626118)del
NC_000003.12:g.(?_193593498)_(193694763_?)del
NC_000004.12:g.(16018322_16016241)_(16075907_?)dup
NC_000004.12:g.(634830_635879)_(670108_?)del
NC_000004.12:g.(?_13369875)_(13381595_13460698)del
NC_000005.10:g.(?_93585023)_(93593843_?)del
NC_000006.12:g.(65402477_65384501)_(65495411_?)del
NC_000008.11:g.(10616588_10622592)_(10623202_?)del
NC_000008.11:g.(?_10606894)_(10623202_?)del
NC_000009.12:g.(?_2717740)_(2729727_?)del
NC_000009.12:g.(?_78236350)_(78243637_78246668)del
NC_000014.9:g.(?_21288008)_(21294714_21300963)del
NC_000015.10:g.(31062703_31063117)_(31076985_?)del
NC_000015.10:g.(?_89210284)_(89211902_89215059)del
NC_000016.10:g.(?_16150133)_(16223434_?)del
NC_000016.10:g.(?_68645368)_(68645750_68676385)del
NC_000019.10:g.(54115478_54118425)_(54131513_?)del
NC_000019.10:g.(54129310_54131513)_(54131513_?)del
NC_000019.10:g.(?_54115478)_(54118852_54121934)del
NC_000019.10:g.(?_54115478)_(54123485_54123843)del
NC_000019.10:g.(?_54115478)_(54123843_54124602)del
NC_000019.10:g.(?_54115478)_(54129310_54131513)del
NC_000019.10:g.(?_54115478)_(54131513_?)del
NC_000019.10:g.(?_54118270)_(54118634_54121859)del
NC_000019.10:g.(?_54118278)_(54126618_54128072)del
NC_000021.9:g.(?_44330197)_(44330920_44331842)del
NC_000023.11:g.(18656759_18657639)_(18672069_?)del
NC_000023.11:g.(18657652_18672110)_(18672110_?)del
NC_000023.11:g.(18657666_18672016)_(18672069_?)del
NC_000023.11:g.(43950027_43958471)_(43958646_?)del
NC_000023.11:g.(86027558_86047483)_(86047533_?)del
NC_000023.11:g.(?_18641623)_(18641623_18644.669)del
NC_000023.11:g.(?_18642003)_(18647333_18656652)del
NC_000023.11:g.(?_38287109)_(38297356_38298961)del
NC_000023.11:g.(?_43949944)_(43958547_43973380)del
NC_000023.11:g.(?_43949944)_(43973380_?)del
NC_000023.11:g.(?_46837100)_(46879770_?)del
NC_000023.11:g.(?_49205136)_(49220525_49221034)del
NC_000023.11:g.(?_85864629)_(85864822_85873051)del
NC_000023.11:g.(?_85864629)_(85879064_85894187)del
NC_000023.11:g.(?_85864629)_(86047533_?)del
NC_012920.1(MT-ND1):m.3388C>A rs387906730
NC_012920.1(MT-ND1):m.3394T>C rs41460449
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NM_000064.4(C3):c.1450G>A (p.Glu484Lys)
NM_000064.4(C3):c.1846-5C>G
NM_000064.4(C3):c.2084A>G (p.Glu695Gly)
NM_000064.4(C3):c.4441G>A (p.Ala1481Thr)
NM_000064.4(C3):c.614A>G (p.Lys205Arg)
NM_000180.4(GUCY2D):c.1009delinsTCTGCAGCAGCT (p.Asp337fs)
NM_000180.4(GUCY2D):c.104G>A (p.Arg35Gln)
NM_000180.4(GUCY2D):c.1252T>C (p.Tyr418His)
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His) rs372005126
NM_000180.4(GUCY2D):c.1657G>C (p.Gly553Arg)
NM_000180.4(GUCY2D):c.1658G>A (p.Gly553Asp)
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1828C>T (p.Leu610Phe)
NM_000180.4(GUCY2D):c.1951A>G (p.Ile651Val)
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2363G>A (p.Trp788Ter)
NM_000180.4(GUCY2D):c.2384G>C (p.Arg795Pro)
NM_000180.4(GUCY2D):c.2413-7C>A
NM_000180.4(GUCY2D):c.2480A>C (p.Tyr827Ser)
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys) rs1975925661
NM_000180.4(GUCY2D):c.2480A>T (p.Tyr827Phe)
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.2522A>G (p.Glu841Gly)
NM_000180.4(GUCY2D):c.2588A>G (p.Glu863Gly)
NM_000180.4(GUCY2D):c.2642T>C (p.Leu881Pro)
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.2705T>C (p.Val902Ala) rs1975935914
NM_000180.4(GUCY2D):c.2740G>A (p.Ala914Thr)
NM_000180.4(GUCY2D):c.2747T>C (p.Ile916Thr)
NM_000180.4(GUCY2D):c.289G>A (p.Glu97Lys)
NM_000180.4(GUCY2D):c.2944+1G>T
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.314G>A (p.Cys105Tyr) rs61749669
NM_000180.4(GUCY2D):c.316C>G (p.Arg106Gly)
NM_000180.4(GUCY2D):c.3225G>T (p.Gly1075=)
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys) rs779735498
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.380C>G (p.Pro127Arg)
NM_000180.4(GUCY2D):c.671C>G (p.Ser224Cys)
NM_000180.4(GUCY2D):c.737T>C (p.Met246Thr)
NM_000180.4(GUCY2D):c.770_773dup (p.Tyr258Ter)
NM_000180.4(GUCY2D):c.7G>T (p.Ala3Ser)
NM_000180.4(GUCY2D):c.985C>T (p.Gln329Ter)
NM_000186.4(CFH):c.2234T>C (p.Val745Ala)
NM_000186.4(CFH):c.2303del (p.Lys768fs)
NM_000186.4(CFH):c.2469G>A (p.Met823Ile)
NM_000186.4(CFH):c.2503G>T (p.Val835Leu)
NM_000186.4(CFH):c.328G>C (p.Ala110Pro)
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
NM_000186.4(CFH):c.678_681del (p.Tyr227fs)
NM_000186.4(CFH):c.67G>A (p.Glu23Lys)
NM_000188.3(HK1):c.1273C>T (p.Arg425Trp)
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1574A>G (p.Asn525Ser)
NM_000188.3(HK1):c.2076C>G (p.Asn692Lys)
NM_000188.3(HK1):c.2263C>T (p.Arg755Cys)
NM_000188.3(HK1):c.328G>A (p.Glu110Lys)
NM_000188.3(HK1):c.916G>T (p.Val306Phe) rs2132855028
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp)
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000260.4(MYO7A):c.1157T>C (p.Leu386Pro)
NM_000260.4(MYO7A):c.1569_1571del (p.Met524del)
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs) rs2135345560
NM_000260.4(MYO7A):c.1771C>T (p.Gln591Ter) rs1953519454
NM_000260.4(MYO7A):c.1785_1797+13del
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)
NM_000260.4(MYO7A):c.2050C>T (p.Arg684Trp)
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2340_2364del (p.Gly780_His781insTer)
NM_000260.4(MYO7A):c.272del (p.Asp91fs)
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.3268del (p.Leu1090fs)
NM_000260.4(MYO7A):c.3504-5C>G
NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) rs797044513
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397del (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4510C>T (p.Gln1504Ter)
NM_000260.4(MYO7A):c.4555G>A (p.Val1519Met)
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4853C>A (p.Ala1618Glu)
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) rs782347270
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter) rs778009227
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5636+5A>G
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) rs1223784415
NM_000260.4(MYO7A):c.745G>A (p.Glu249Lys)
NM_000260.4(MYO7A):c.[3547C>A;5637-3C>G]
NM_000266.4(NDP):c.11_12del (p.His4fs)
NM_000266.4(NDP):c.162G>C (p.Lys54Asn)
NM_000266.4(NDP):c.174+5G>C rs1555977105
NM_000266.4(NDP):c.181C>T (p.Leu61Phe) rs104894880
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.4(NDP):c.288C>A (p.Cys96Ter) rs104894877
NM_000266.4(NDP):c.310A>C (p.Lys104Gln)
NM_000266.4(NDP):c.325C>T (p.Arg109Ter) rs886043023
NM_000266.4(NDP):c.329G>T (p.Cys110Phe) rs2147204715
NM_000266.4(NDP):c.330C>A (p.Cys110Ter)
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000266.4(NDP):c.362G>A (p.Arg121Gln)
NM_000266.4(NDP):c.378T>A (p.Cys126Ter)
NM_000272.5:c.(1251+1_1252-1)_(1437+1_1438-1)del
NM_000274.4(OAT):c.1014+1G>A rs1951414426
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.4(OAT):c.47G>A (p.Arg16His)
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer) rs386833612
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000274.4(OAT):c.982C>G (p.Leu328Val)
NM_000278.5(PAX2):c.219C>A (p.Tyr73Ter)
NM_000278.5(PAX2):c.842A>G (p.Lys281Arg)
NM_000283.4(PDE6B):c.1060-1G>T rs863223339
NM_000283.4(PDE6B):c.1401+4_1401+48del rs768567008
NM_000283.4(PDE6B):c.1403C>T (p.Pro468Leu) rs1420482878
NM_000283.4(PDE6B):c.1468-2A>G rs763371769
NM_000283.4(PDE6B):c.1670A>G (p.His557Arg) rs536742386
NM_000283.4(PDE6B):c.1684G>A (p.Gly562Ser)
NM_000283.4(PDE6B):c.1807G>A (p.Gly603Ser)
NM_000283.4(PDE6B):c.1837del (p.Gln613fs)
NM_000283.4(PDE6B):c.1921-9C>G rs1577301137
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs) rs1296042817
NM_000283.4(PDE6B):c.1969A>G (p.Ile657Val)
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) rs1737442897
NM_000283.4(PDE6B):c.2021+2T>C
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000283.4(PDE6B):c.2353-2A>T
NM_000283.4(PDE6B):c.2396G>C (p.Arg799Pro) rs546425862
NM_000283.4(PDE6B):c.2429T>C (p.Leu810Pro) rs1737988951
NM_000283.4(PDE6B):c.2473GAG[3] (p.Glu828del) rs777568669
NM_000283.4(PDE6B):c.468G>C (p.Glu156Asp)
NM_000283.4(PDE6B):c.469-1G>A
NM_000283.4(PDE6B):c.551A>G (p.Lys184Arg)
NM_000283.4(PDE6B):c.797_798insGGTACTT (p.Tyr267fs)
NM_000283.4(PDE6B):c.803T>C (p.Leu268Pro)
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000291.4(PGK1):c.1154C>T (p.Thr385Met)
NM_000313.4(PROS1):c.1187_1188delinsAA (p.Ser396Lys)
NM_000313.4(PROS1):c.1343G>T (p.Gly448Val)
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.1505G>T (p.Ser502Ile)
NM_000321.3(RB1):c.1226T>C (p.Val409Ala)
NM_000321.3(RB1):c.67C>T (p.Pro23Ser) rs1349657979
NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
NM_000322.5(PRPH2):c.*31_*43del
NM_000322.5(PRPH2):c.133del (p.Leu45fs)
NM_000322.5(PRPH2):c.195del (p.Ile65fs)
NM_000322.5(PRPH2):c.213del (p.Cys72fs)
NM_000322.5(PRPH2):c.230T>A (p.Leu77Gln)
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs) rs1761915143
NM_000322.5(PRPH2):c.281G>A (p.Trp94Ter) rs2152011008
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.359_362del (p.Phe120fs)
NM_000322.5(PRPH2):c.371del (p.Gly124fs) rs61755778
NM_000322.5(PRPH2):c.394del (p.Gln132fs) rs769723975
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His) rs61755780
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter) rs2152010946
NM_000322.5(PRPH2):c.433G>A (p.Asp145Asn)
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.442G>T (p.Gly148Cys)
NM_000322.5(PRPH2):c.457A>C (p.Lys153Gln)
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.466A>G (p.Ile156Val)
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.469G>T (p.Asp157Tyr)
NM_000322.5(PRPH2):c.479A>G (p.Gln160Arg)
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.514del (p.Arg172fs)
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.527A>T (p.Glu176Val) rs1761906163
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) rs61755796
NM_000322.5(PRPH2):c.545dup (p.Asn182fs) rs2152010877
NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter) rs2152010848
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) rs62645929
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.582-1G>A rs1800118693
NM_000322.5(PRPH2):c.582-2A>T rs2152005417
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter) rs1322278463
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.593G>C (p.Ser198Thr) rs1800118213
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.617T>C (p.Val206Ala) rs1064797323
NM_000322.5(PRPH2):c.626T>A (p.Val209Asp) rs1220783333
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
NM_000322.5(PRPH2):c.62G>A (p.Trp21Ter) rs2152011135
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>A (p.Ser212Asn)
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.645del (p.Pro216fs)
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) rs61755805
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs) rs1800115494
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg) rs61755806
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg) rs61755808
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) rs61755810
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu) rs973931180
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter) rs61755811
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.719C>A (p.Thr240Lys)
NM_000322.5(PRPH2):c.721G>C (p.Glu241Gln)
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser) rs2152005248
NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg) rs1064793931
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr) rs1458793437
NM_000322.5(PRPH2):c.74_77del (p.Trp25fs) rs2152011125
NM_000322.5(PRPH2):c.760del (p.Leu254fs) rs1800111025
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro) rs2152005198
NM_000322.5(PRPH2):c.829-3_829-1del rs2152003876
NM_000322.5(PRPH2):c.851G>A (p.Arg284His)
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs) rs61748429
NM_000322.5(PRPH2):c.898G>T (p.Glu300Ter)
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000322.5(PRPH2):c.920del (p.Leu307fs) rs61748433
NM_000322.5(PRPH2):c.945del (p.Trp316fs) rs2152003822
NM_000322.5:c.(581+1_582-1)_(828+1_829-1)del
NM_000326.5(RLBP1):c.115C>A (p.Gln39Lys)
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000326.5(RLBP1):c.827del (p.Phe276fs) rs2150968520
NM_000327.4(ROM1):c.116G>A (p.Ser39Asn)
NM_000327.4(ROM1):c.338G>A (p.Gly113Glu) rs145383959
NM_000327.4(ROM1):c.338G>C (p.Gly113Ala) rs145383959
NM_000327.4(ROM1):c.339del (p.Leu114fs) rs71458427
NM_000327.4(ROM1):c.835C>T (p.Gln279Ter)
NM_000327.4(ROM1):c.923del (p.Gly308fs)
NM_000329.3(RPE65):c.1004A>G (p.Glu335Gly)
NM_000329.3(RPE65):c.1053A>C (p.Glu351Asp)
NM_000329.3(RPE65):c.1094T>A (p.Val365Asp)
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1244-8T>G
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1366G>A (p.Glu456Lys)
NM_000329.3(RPE65):c.1433C>G (p.Ala478Gly)
NM_000329.3(RPE65):c.1475G>A (p.Ser492Asn)
NM_000329.3(RPE65):c.1533T>A (p.Ser511Arg)
NM_000329.3(RPE65):c.172del (p.Tyr58fs)
NM_000329.3(RPE65):c.200T>A (p.Leu67Gln)
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
NM_000329.3(RPE65):c.20A>G (p.His7Arg)
NM_000329.3(RPE65):c.220G>A (p.Glu74Lys) rs2100831197
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000329.3(RPE65):c.95-3C>T
NM_000329.3(RPE65):c.95-6T>G
NM_000330.4(RS1):c.120C>A (p.Cys40Ter) rs62645885
NM_000330.4(RS1):c.124del (p.Cys42fs)
NM_000330.4(RS1):c.175T>A (p.Cys59Ser) rs62645889
NM_000330.4(RS1):c.176G>A (p.Cys59Tyr) rs1928220547
NM_000330.4(RS1):c.183_184+12del
NM_000330.4(RS1):c.199_206dup (p.Gly70fs) rs1927824776
NM_000330.4(RS1):c.206T>C (p.Leu69Pro)
NM_000330.4(RS1):c.208G>T (p.Gly70Cys)
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.242T>A (p.Ile81Asn) rs61750457
NM_000330.4(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.4(RS1):c.275G>C (p.Trp92Ser)
NM_000330.4(RS1):c.276G>C (p.Trp92Cys) rs61752062
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.286T>G (p.Trp96Gly)
NM_000330.4(RS1):c.293C>A (p.Ala98Glu) rs61752065
NM_000330.4(RS1):c.311A>C (p.Asn104Thr) rs1927814979
NM_000330.4(RS1):c.318dup (p.Gly107fs) rs61752071
NM_000330.4(RS1):c.322_326+6del
NM_000330.4(RS1):c.323T>G (p.Phe108Cys) rs61752072
NM_000330.4(RS1):c.326G>C (p.Gly109Ala) rs281865345
NM_000330.4(RS1):c.328T>G (p.Cys110Gly)
NM_000330.4(RS1):c.332C>T (p.Ala111Val) rs2147191414
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.33_36del (p.Leu11fs) rs281865335
NM_000330.4(RS1):c.370del (p.Gln124fs)
NM_000330.4(RS1):c.375_377delinsC (p.Asp126fs)
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
NM_000330.4(RS1):c.378_380del (p.Asp126_Leu127delinsGlu)
NM_000330.4(RS1):c.380T>G (p.Leu127Arg)
NM_000330.4(RS1):c.3G>A (p.Met1Ile) rs1928500368
NM_000330.4(RS1):c.410T>C (p.Leu137Pro)
NM_000330.4(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000330.4(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.4(RS1):c.424T>C (p.Cys142Arg)
NM_000330.4(RS1):c.428A>C (p.Asp143Ala)
NM_000330.4(RS1):c.449A>C (p.Lys150Thr)
NM_000330.4(RS1):c.458T>C (p.Val153Ala)
NM_000330.4(RS1):c.466A>G (p.Arg156Gly) rs2147191190
NM_000330.4(RS1):c.467_469del (p.Arg156del)
NM_000330.4(RS1):c.491_494dup (p.Tyr166fs)
NM_000330.4(RS1):c.518del (p.Asn173fs)
NM_000330.4(RS1):c.522+1G>T rs281865348
NM_000330.4(RS1):c.527_528insA (p.Phe176fs)
NM_000330.4(RS1):c.535A>G (p.Asn179Asp) rs61753170
NM_000330.4(RS1):c.538T>C (p.Ser180Pro)
NM_000330.4(RS1):c.559C>T (p.Gln187Ter)
NM_000330.4(RS1):c.566dup (p.Leu190fs)
NM_000330.4(RS1):c.567_576dup (p.Pro193fs)
NM_000330.4(RS1):c.574C>A (p.Pro192Thr) rs61753174
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000330.4(RS1):c.578C>T (p.Pro193Leu) rs281865352
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.587C>T (p.Ser196Phe)
NM_000330.4(RS1):c.589C>G (p.Arg197Gly)
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000330.4(RS1):c.590G>T (p.Arg197Leu)
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) rs281865357
NM_000330.4(RS1):c.599G>A (p.Arg200His) rs281865358
NM_000330.4(RS1):c.602T>G (p.Leu201Arg)
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.617G>A (p.Trp206Ter)
NM_000330.4(RS1):c.617G>C (p.Trp206Ser) rs2147188942
NM_000330.4(RS1):c.618G>A (p.Trp206Ter) rs281865359
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.626G>A (p.Arg209His) rs281865362
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) rs281865365
NM_000330.4(RS1):c.637del (p.Arg213fs) rs2147188897
NM_000330.4(RS1):c.638G>A (p.Arg213Gln) rs281865364
NM_000330.4(RS1):c.643G>C (p.Glu215Gln) rs281865367
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369
NM_000330.4(RS1):c.97del (p.Trp33fs)
NM_000330.4:c.(184+1_185-1)_(522+1_523-1)del
NM_000330.4:c.(52+1_53-1)_(184+1_185-1)del
NM_000330.4:c.(78+1_79-1)_(184+1_185-1)del
NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1099+3A>C rs1570407965
NM_000350.3(ABCA4):c.1099+4A>C
NM_000350.3(ABCA4):c.113T>G (p.Val38Gly)
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1240-3_1240dup
NM_000350.3(ABCA4):c.1302del (p.Gln437fs) rs1448468321
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1356+1G>T
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1454del (p.Gly485fs) rs1661577361
NM_000350.3(ABCA4):c.1495T>C (p.Trp499Arg)
NM_000350.3(ABCA4):c.1520A>G (p.Asp507Gly)
NM_000350.3(ABCA4):c.1523G>C (p.Arg508Pro)
NM_000350.3(ABCA4):c.1553A>C (p.Glu518Ala)
NM_000350.3(ABCA4):c.1554+1G>T
NM_000350.3(ABCA4):c.1554+3_1554+4del
NM_000350.3(ABCA4):c.1555-6842A>G
NM_000350.3(ABCA4):c.1574T>C (p.Phe525Ser)
NM_000350.3(ABCA4):c.160+1G>A rs61748523
NM_000350.3(ABCA4):c.160+2T>C rs886044721
NM_000350.3(ABCA4):c.160+367G>A
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.161-1G>A
NM_000350.3(ABCA4):c.1652T>C (p.Val551Ala)
NM_000350.3(ABCA4):c.1653G>T (p.Val551=)
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile) rs886044728
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly) rs1553192682
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met) rs201838557
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly) rs886044729
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.180G>C (p.Ala60=) rs756647171
NM_000350.3(ABCA4):c.1832T>C (p.Leu611Pro)
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.3(ABCA4):c.1868A>G (p.Gln623Arg)
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg) rs886044730
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala) rs766570903
NM_000350.3(ABCA4):c.1937+3G>A
NM_000350.3(ABCA4):c.1938-621G>A
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1957del (p.Arg653fs)
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) rs757302286
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2069del (p.Gly690fs) rs2101075191
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter) rs886044722
NM_000350.3(ABCA4):c.2200T>G (p.Phe734Val)
NM_000350.3(ABCA4):c.2256C>A (p.Ser752Arg)
NM_000350.3(ABCA4):c.2290T>C (p.Cys764Arg)
NM_000350.3(ABCA4):c.2337C>G (p.Cys779Trp)
NM_000350.3(ABCA4):c.2368C>G (p.Leu790Val)
NM_000350.3(ABCA4):c.2382+4A>G
NM_000350.3(ABCA4):c.241T>C (p.Cys81Arg)
NM_000350.3(ABCA4):c.2440G>A (p.Glu814Lys)
NM_000350.3(ABCA4):c.2531T>G (p.Leu844Arg) rs1660938577
NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys) rs143797418
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp) rs61749436
NM_000350.3(ABCA4):c.2565_2572del (p.Trp855_Asp858delinsTer)
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter) rs61749441
NM_000350.3(ABCA4):c.2743G>A (p.Asp915Asn) rs139035971
NM_000350.3(ABCA4):c.2744-2A>G
NM_000350.3(ABCA4):c.2802_2804del (p.Val935del)
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala) rs61749444
NM_000350.3(ABCA4):c.2818C>T (p.Pro940Ser)
NM_000350.3(ABCA4):c.2829del (p.Pro944fs) rs1660702616
NM_000350.3(ABCA4):c.2843G>C (p.Arg948Pro)
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser) rs1660701838
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp) rs61749449
NM_000350.3(ABCA4):c.2905A>C (p.Lys969Gln)
NM_000350.3(ABCA4):c.2933G>A (p.Gly978Asp) rs61749453
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe) rs886044734
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.2950T>C (p.Ser984Pro)
NM_000350.3(ABCA4):c.2953G>A (p.Gly985Arg)
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp) rs1660620340
NM_000350.3(ABCA4):c.303-1G>T
NM_000350.3(ABCA4):c.303-3C>G
NM_000350.3(ABCA4):c.3050+1G>C
NM_000350.3(ABCA4):c.3050+5G>T
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.3(ABCA4):c.3089T>A (p.Leu1030Gln)
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.3191-11T>A
NM_000350.3(ABCA4):c.3191-2A>G rs61752415
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3264del (p.Thr1089fs)
NM_000350.3(ABCA4):c.3266C>T (p.Thr1089Ile)
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) rs1131691351
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.327dup (p.Gln110fs) rs61748531
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu) rs763267492
NM_000350.3(ABCA4):c.3289A>T (p.Arg1097Ter) rs886044731
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr) rs138641544
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro) rs1047376
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly) rs779426136
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu) rs1660480045
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His) rs1287053724
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) rs886044736
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp) rs61752422
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) rs61752425
NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=) rs886044737
NM_000350.3(ABCA4):c.3813G>C (p.Glu1271Asp)
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr) rs886044738
NM_000350.3(ABCA4):c.3819dup (p.Leu1274fs) rs281865514
NM_000350.3(ABCA4):c.3832G>T (p.Glu1278Ter)
NM_000350.3(ABCA4):c.3855_3856dup (p.Phe1286fs)
NM_000350.3(ABCA4):c.3857T>C (p.Phe1286Ser)
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) rs746541266
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val) rs552517556
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro) rs61752429
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys) rs1183074086
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.3(ABCA4):c.419G>C (p.Arg140Pro) rs369105023
NM_000350.3(ABCA4):c.4200C>A (p.Tyr1400Ter)
NM_000350.3(ABCA4):c.4204G>T (p.Ala1402Ser) rs554101094
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs) rs1571264574
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.4246TTC[1] (p.Phe1417del) rs1467000353
NM_000350.3(ABCA4):c.4253+1G>T rs61750139
NM_000350.3(ABCA4):c.4254-1G>C rs886044740
NM_000350.3(ABCA4):c.4289T>C (p.Leu1430Pro)
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp) rs61750140
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter) rs886044742
NM_000350.3(ABCA4):c.4437G>A (p.Trp1479Ter) rs1660139846
NM_000350.3(ABCA4):c.443G>A (p.Gly148Glu)
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr) rs1012017728
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1101G>A
NM_000350.3(ABCA4):c.4539+1321A>G
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4539+2T>G
NM_000350.3(ABCA4):c.4539G>C (p.Gln1513His)
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.4574_4577dup (p.Arg1528fs)
NM_000350.3(ABCA4):c.4595A>T (p.Asp1532Val)
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4615_4625del (p.Pro1539fs)
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=) rs886044744
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs) rs886044745
NM_000350.3(ABCA4):c.4663_4664del (p.Gln1555fs)
NM_000350.3(ABCA4):c.4667+1G>C
NM_000350.3(ABCA4):c.4670A>G (p.Tyr1557Cys) rs1401716074
NM_000350.3(ABCA4):c.4683del (p.Ile1562fs)
NM_000350.3(ABCA4):c.4687G>A (p.Gly1563Arg)
NM_000350.3(ABCA4):c.4753del (p.Arg1585fs)
NM_000350.3(ABCA4):c.4773+1G>A
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys) rs62645943
NM_000350.3(ABCA4):c.4848+2T>A rs1659900155
NM_000350.3(ABCA4):c.4848+2T>C rs1659900155
NM_000350.3(ABCA4):c.4849-2A>G rs1659893796
NM_000350.3(ABCA4):c.4872G>A (p.Trp1624Ter) rs2101023129
NM_000350.3(ABCA4):c.4880T>C (p.Leu1627Pro)
NM_000350.3(ABCA4):c.4880_4903dup (p.Ala1634_His1635insLeuValSerPheLeuAsnValAla)
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.4981del (p.Pro1660_Leu1661insTer) rs2101022823
NM_000350.3(ABCA4):c.5018+247T>C
NM_000350.3(ABCA4):c.5018+2T>A rs61750562
NM_000350.3(ABCA4):c.5018+7C>T
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5073del (p.Phe1692fs)
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu) rs61753021
NM_000350.3(ABCA4):c.5153T>G (p.Val1718Gly) rs886044732
NM_000350.3(ABCA4):c.5158C>A (p.Pro1720Thr)
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter) rs1437993640
NM_000350.3(ABCA4):c.5171G>C (p.Trp1724Ser) rs1571256634
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+1013A>G rs886044748
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro) rs61753028
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg) rs374015407
NM_000350.3(ABCA4):c.5342C>A (p.Ala1781Glu)
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu) rs886044751
NM_000350.3(ABCA4):c.5420dup (p.Ser1807fs)
NM_000350.3(ABCA4):c.5423del (p.Ala1808fs)
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5509C>G (p.Pro1837Ala)
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn) rs62642562
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg) rs886044752
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp) rs886044753
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5641del (p.Ala1881fs)
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg) rs886044754
NM_000350.3(ABCA4):c.5704dup (p.Leu1902fs)
NM_000350.3(ABCA4):c.571-7C>G
NM_000350.3(ABCA4):c.571_580dup rs1662216783
NM_000350.3(ABCA4):c.5761del (p.Val1921fs)
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro) rs886044755
NM_000350.3(ABCA4):c.5851T>C (p.Ser1951Pro)
NM_000350.3(ABCA4):c.5898+5G>A
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu) rs1659430629
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro) rs886044756
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg) rs61753036
NM_000350.3(ABCA4):c.5926G>A (p.Ala1976Thr)
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000350.3(ABCA4):c.5977T>C (p.Ser1993Pro)
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6005+5G>A rs1331785486
NM_000350.3(ABCA4):c.6006-609T>A
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg) rs1242866408
NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro) rs1553186896
NM_000350.3(ABCA4):c.6100del (p.Tyr2034fs)
NM_000350.3(ABCA4):c.6147G>A (p.Lys2049=)
NM_000350.3(ABCA4):c.6148-2A>G
NM_000350.3(ABCA4):c.6176G>A (p.Gly2059Asp)
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter) rs770272033
NM_000350.3(ABCA4):c.6209C>T (p.Thr2070Met)
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6225C>G (p.Asn2075Lys)
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6283-2A>G
NM_000350.3(ABCA4):c.6283-3C>A
NM_000350.3(ABCA4):c.6287A>G (p.Glu2096Gly)
NM_000350.3(ABCA4):c.6304G>C (p.Asp2102His)
NM_000350.3(ABCA4):c.6313del (p.Ala2105fs)
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro) rs886044761
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6387-5C>A
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.3(ABCA4):c.6419T>G (p.Leu2140Arg) rs774475956
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys) rs1571241947
NM_000350.3(ABCA4):c.6473A>T (p.Lys2158Met)
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu) rs1571241930
NM_000350.3(ABCA4):c.6479+5G>C
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg) rs886044762
NM_000350.3(ABCA4):c.652_660del (p.Gln218_Arg220del)
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del) rs63749058
NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs) rs61751409
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter) rs61753045
NM_000350.3(ABCA4):c.6632C>T (p.Ser2211Phe)
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.67-1G>C rs778908435
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg) rs886044764
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6735del (p.Phe2245fs)
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000350.3(ABCA4):c.6816G>A (p.Gln2272=)
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) rs755733328
NM_000350.3(ABCA4):c.717G>T (p.Trp239Cys)
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.769-605T>C
NM_000350.3(ABCA4):c.769-784C>T
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg) rs886044719
NM_000350.3(ABCA4):c.905C>T (p.Pro302Leu)
NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del) rs1440228037
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000350.3:c.(1554+1_1555-1)_(1937+1_1938-1)del
NM_000350.3:c.(2918+1_2919-1)_(3328+1_3329-1)del
NM_000350.3:c.(570+1_571-1)_(768+1_769-1)del
NM_000362.5(TIMP3):c.394C>T (p.Arg132Cys) rs2048424262
NM_000362.5(TIMP3):c.410A>G (p.Tyr137Cys) rs2048424649
NM_000362.5(TIMP3):c.452A>G (p.Tyr151Cys) rs2048464498
NM_000362.5(TIMP3):c.484G>A (p.Glu162Lys) rs137853302
NM_000362.5(TIMP3):c.499G>A (p.Asp167Asn) rs1042630476
NM_000362.5(TIMP3):c.530A>G (p.Tyr177Cys)
NM_000362.5(TIMP3):c.536C>G (p.Ser179Cys) rs137853300
NM_000362.5(TIMP3):c.545A>G (p.Tyr182Cys)
NM_000362.5(TIMP3):c.92C>G (p.Pro31Arg)
NM_000370.3(TTPA):c.604A>C (p.Ile202Leu)
NM_000370.3(TTPA):c.819T>G (p.Ile273Met)
NM_000390.4(CHM):c.1000C>T (p.Gln334Ter)
NM_000390.4(CHM):c.1036G>T (p.Glu346Ter)
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.1213C>T (p.Gln405Ter) rs1057517715
NM_000390.4(CHM):c.1244+1G>A
NM_000390.4(CHM):c.1255_1258del (p.Ala418_Ile419insTer)
NM_000390.4(CHM):c.1258del (p.Ile419_Ile420insTer)
NM_000390.4(CHM):c.1276A>T (p.Arg426Ter)
NM_000390.4(CHM):c.1287dup (p.Glu430Ter)
NM_000390.4(CHM):c.129T>G (p.Tyr43Ter)
NM_000390.4(CHM):c.131_134dup (p.Asn46fs)
NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)
NM_000390.4(CHM):c.1349G>A (p.Arg450Lys)
NM_000390.4(CHM):c.1350-10T>A
NM_000390.4(CHM):c.1350-2A>G
NM_000390.4(CHM):c.1358_1359del (p.Ile452_Ser453insTer)
NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer) rs1926208868
NM_000390.4(CHM):c.1413G>A (p.Gln471=) rs1556257626
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1509del (p.Tyr504fs)
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1745T>A (p.Leu582Ter)
NM_000390.4(CHM):c.1748G>T (p.Gly583Val)
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) rs1931625420
NM_000390.4(CHM):c.189+1G>A
NM_000390.4(CHM):c.217_221del (p.Pro73fs)
NM_000390.4(CHM):c.315-1G>A
NM_000390.4(CHM):c.315-5A>G
NM_000390.4(CHM):c.315_318del (p.Ser105Argfs) rs886041176
NM_000390.4(CHM):c.372dup (p.Val125fs)
NM_000390.4(CHM):c.49+5G>A rs1057521475
NM_000390.4(CHM):c.50-1G>A
NM_000390.4(CHM):c.50-1G>T
NM_000390.4(CHM):c.50-2A>G
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.534del (p.Glu179fs)
NM_000390.4(CHM):c.535G>T (p.Glu179Ter)
NM_000390.4(CHM):c.616dup (p.Thr206fs) rs2147675545
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) rs1930414140
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) rs886041178
NM_000390.4(CHM):c.762T>G (p.Tyr254Ter)
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.817C>T (p.Gln273Ter) rs2147667288
NM_000390.4(CHM):c.856del (p.Gln286fs)
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000390.4(CHM):c.940+1G>A
NM_000390.4(CHM):c.979C>T (p.Gln327Ter) rs2147663380
NM_000390.4:c.(116+1_117-1)_(1166+1_1167-1)del
NM_000390.4:c.(116+1_117-1)_(1244+1_1245-1)del
NM_000390.4:c.(116+1_117-1)_(189+1_190-1)del
NM_000390.4:c.(116+1_117-1)_(314+1_315-1)del
NM_000390.4:c.(1413+1_1414-1)_(1510+1_1511-1)del
NM_000390.4:c.(1510+1_1511-1)_(1770+1_1771-1)del
NM_000390.4:c.(314+1_315-1)_(1166+1_1167-1)del
NM_000390.4:c.(315-4311_315-1811)_(702+1_703-1)del
NM_000390.4:c.98_99insAluYb9
NM_000431.4(MVK):c.508G>A (p.Asp170Asn)
NM_000440.3(PDE6A):c.1129G>T (p.Glu377Ter)
NM_000440.3(PDE6A):c.1205C>A (p.Thr402Lys)
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.2042T>A (p.Phe681Tyr)
NM_000440.3(PDE6A):c.2242C>A (p.Leu748Met)
NM_000440.3(PDE6A):c.2245G>A (p.Glu749Lys)
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.2541C>A (p.Ser847Arg)
NM_000440.3(PDE6A):c.256T>C (p.Cys86Arg)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.378G>A (p.Val126=)
NM_000440.3(PDE6A):c.627+2T>G rs1581211727
NM_000440.3(PDE6A):c.63_68del (p.Lys21_Tyr23delinsAsn)
NM_000440.3(PDE6A):c.706C>T (p.Arg236Ter)
NM_000440.3(PDE6A):c.788T>C (p.Leu263Pro)
NM_000440.3(PDE6A):c.84C>A (p.Tyr28Ter)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2393G>A (p.Arg798His)
NM_000466.3(PEX1):c.3610A>G (p.Lys1204Glu)
NM_000466.3(PEX1):c.434_446delinsGC (p.Val145fs)
NM_000466.3(PEX1):c.938A>G (p.His313Arg)
NM_000539.3(RHO):c.1003del (p.Ala335fs)
NM_000539.3(RHO):c.1021_1028del (p.Glu341fs)
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) rs104893778
NM_000539.3(RHO):c.1030_1031del (p.Gln344fs)
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1034T>G (p.Val345Gly)
NM_000539.3(RHO):c.1037C>A (p.Ala346Asp)
NM_000539.3(RHO):c.10A>C (p.Thr4Pro)
NM_000539.3(RHO):c.130A>G (p.Met44Val)
NM_000539.3(RHO):c.140T>G (p.Leu47Arg)
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.181G>T (p.Val61Phe)
NM_000539.3(RHO):c.182T>A (p.Val61Asp)
NM_000539.3(RHO):c.217_219del (p.Asn73del) rs398122525
NM_000539.3(RHO):c.219_220delinsATACATCCTGCTCAACC (p.Asn73_Tyr74delinsLysTyrIleLeuLeuAsnHis)
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) rs104893790
NM_000539.3(RHO):c.26T>G (p.Phe9Cys)
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.337G>A (p.Glu113Lys) rs2108749341
NM_000539.3(RHO):c.376T>G (p.Trp126Gly)
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.485T>A (p.Val162Asp)
NM_000539.3(RHO):c.491C>A (p.Ala164Glu) rs104893793
NM_000539.3(RHO):c.503C>T (p.Ala168Val)
NM_000539.3(RHO):c.511C>T (p.Pro171Ser) rs104893794
NM_000539.3(RHO):c.527C>G (p.Ser176Cys)
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>G (p.Pro180Ala) rs1560046837
NM_000539.3(RHO):c.539C>G (p.Pro180Arg) rs2084785483
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.568G>C (p.Asp190His) rs104893779
NM_000539.3(RHO):c.569A>T (p.Asp190Val)
NM_000539.3(RHO):c.595AAC[1] (p.Asn200del)
NM_000539.3(RHO):c.644C>T (p.Pro215Leu) rs2084786704
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.68C>T (p.Pro23Leu) rs104893768
NM_000539.3(RHO):c.706C>T (p.Gln236Ter)
NM_000539.3(RHO):c.713A>G (p.Gln238Arg)
NM_000539.3(RHO):c.71T>C (p.Phe24Ser)
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) rs1553780837
NM_000539.3(RHO):c.854C>G (p.Pro285Arg)
NM_000539.3(RHO):c.886A>C (p.Lys296Gln) rs29001653
NM_000539.3(RHO):c.888G>C (p.Lys296Asn) rs2084793009
NM_000539.3(RHO):c.937-1G>T
NM_000539.3(RHO):c.937-2A>T rs1578281565
NM_000539.3(RHO):c.968G>T (p.Cys323Phe)
NM_000539.3(RHO):c.999dup (p.Ser334fs)
NM_000541.5(SAG):c.1012A>G (p.Thr338Ala)
NM_000541.5(SAG):c.1054G>T (p.Ala352Ser)
NM_000541.5(SAG):c.379C>T (p.Pro127Ser)
NM_000541.5(SAG):c.866C>A (p.Ala289Asp)
NM_000554.6(CRX):c.120_121delinsTT (p.Arg41Trp)
NM_000554.6(CRX):c.122G>C (p.Arg41Pro)
NM_000554.6(CRX):c.147C>G (p.Ser49Arg)
NM_000554.6(CRX):c.158A>G (p.Glu53Gly)
NM_000554.6(CRX):c.561del (p.Ser188fs)
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr) rs751790087
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) rs2123743692
NM_000843.4(GRM6):c.1195G>A (p.Gly399Ser)
NM_000843.4(GRM6):c.1551dup (p.Cys518fs)
NM_000843.4(GRM6):c.1852G>C (p.Ala618Pro)
NM_000843.4(GRM6):c.1982C>T (p.Thr661Met) rs143755306
NM_000843.4(GRM6):c.2267G>A (p.Gly756Asp)
NM_000843.4(GRM6):c.292A>C (p.Thr98Pro)
NM_000843.4(GRM6):c.49C>A (p.Pro17Thr) rs1329916303
NM_000843.4(GRM6):c.953G>T (p.Ser318Ile) rs755939082
NM_000883.4(IMPDH1):c.100C>G (p.Gln34Glu)
NM_000883.4(IMPDH1):c.1644C>T (p.Gly548=)
NM_000883.4(IMPDH1):c.1699A>G (p.Met567Val)
NM_000883.4(IMPDH1):c.31_52del (p.Gln11fs)
NM_000883.4(IMPDH1):c.34G>C (p.Gly12Arg)
NM_000883.4(IMPDH1):c.44C>T (p.Ala15Val)
NM_000883.4(IMPDH1):c.580-5C>G
NM_000883.4(IMPDH1):c.595T>G (p.Phe199Val)
NM_000883.4(IMPDH1):c.677G>T (p.Gly226Val)
NM_000883.4(IMPDH1):c.715C>T (p.Leu239=)
NM_000883.4(IMPDH1):c.730A>C (p.Thr244Pro) rs1253235754
NM_000883.4(IMPDH1):c.889G>A (p.Val297Ile)
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del) rs1554414710
NM_000883.4(IMPDH1):c.936GAA[4] (p.Lys314_Asn315insLys)
NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn) rs1798090540
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) rs1584728088
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913
NM_001001557.4(GDF6):c.1087T>A (p.Phe363Ile)
NM_001004334.4(GPR179):c.1303A>G (p.Ile435Val)
NM_001004334.4(GPR179):c.1345C>T (p.Arg449Cys)
NM_001004334.4(GPR179):c.1576G>T (p.Gly526Cys)
NM_001004334.4(GPR179):c.1891-11A>G
NM_001004334.4(GPR179):c.2167C>G (p.Leu723Val)
NM_001004334.4(GPR179):c.2520G>A (p.Ser840=) rs781023140
NM_001004334.4(GPR179):c.349G>T (p.Asp117Tyr)
NM_001004334.4(GPR179):c.362C>T (p.Ser121Phe)
NM_001004334.4(GPR179):c.3699G>C (p.Leu1233=) rs35803744
NM_001004334.4(GPR179):c.5049C>A (p.Ser1683Arg)
NM_001004334.4(GPR179):c.5726A>G (p.Glu1909Gly)
NM_001004334.4(GPR179):c.6019G>A (p.Val2007Met)
NM_001004334.4(GPR179):c.6127G>C (p.Glu2043Gln)
NM_001004334.4(GPR179):c.6809C>T (p.Ala2270Val)
NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001012720.2(RGR):c.239G>A (p.Arg80His) rs780295976
NM_001012720.2(RGR):c.337C>T (p.Arg113Cys) rs142050467
NM_001017979.3(RAB28):c.395A>T (p.Asp132Val)
NM_001017979.3(RAB28):c.565C>T (p.Gln189Ter) rs786200944
NM_001017979.3(RAB28):c.574-1223C>T
NM_001017979.3(RAB28):c.594T>G (p.Ile198Met)
NM_001017979.3(RAB28):c.71G>C (p.Gly24Ala)
NM_001023570.4(IQCB1):c.1203C>G (p.Tyr401Ter)
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.323T>C (p.Leu108Pro)
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001029883.3(PCARE):c.1139G>A (p.Trp380Ter)
NM_001029883.3(PCARE):c.1185del (p.His395fs)
NM_001029883.3(PCARE):c.1525del (p.Thr509fs) rs753619551
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001029883.3(PCARE):c.2159G>A (p.Trp720Ter)
NM_001029883.3(PCARE):c.2479del (p.Leu827fs)
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro) rs370203821
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter) rs1667480949
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3128_3129dup (p.Thr1044fs)
NM_001029883.3(PCARE):c.3494A>T (p.Asn1165Ile)
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001029883.3(PCARE):c.3725del (p.Pro1242fs)
NM_001029883.3(PCARE):c.689G>A (p.Ser230Asn)
NM_001029883.3(PCARE):c.718G>A (p.Gly240Arg)
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001029883.3(PCARE):c.930G>C (p.Lys310Asn)
NM_001030311.3:c.(238+1_239-1)_(481+1_482-1)del
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr) rs137853114
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001031710.3(KLHL7):c.575A>G (p.His192Arg)
NM_001031710.3(KLHL7):c.583A>G (p.Asn195Asp)
NM_001031710.3(KLHL7):c.62G>C (p.Arg21Pro)
NM_001034853.2(RPGR):c.1070G>T (p.Gly357Val)
NM_001034853.2(RPGR):c.1094C>T (p.Ala365Val)
NM_001034853.2(RPGR):c.1114G>T (p.Ala372Ser)
NM_001034853.2(RPGR):c.1193C>G (p.Ser398Ter)
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1245+1G>A rs2147232242
NM_001034853.2(RPGR):c.1245+1G>T
NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs) rs2067408614
NM_001034853.2(RPGR):c.139dup (p.Ser47fs)
NM_001034853.2(RPGR):c.1415-7C>A
NM_001034853.2(RPGR):c.143C>T (p.Ala48Val)
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.154+3_154+6del
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.1573-11A>G
NM_001034853.2(RPGR):c.1573-12A>G rs2067221066
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.1689_1690del (p.Ser564fs)
NM_001034853.2(RPGR):c.1754-2dup rs2067203496
NM_001034853.2(RPGR):c.1765G>T (p.Glu589Ter)
NM_001034853.2(RPGR):c.178G>T (p.Gly60Cys)
NM_001034853.2(RPGR):c.1852G>A (p.Gly618Arg)
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) rs2067200470
NM_001034853.2(RPGR):c.1921_1925dup (p.Ser643fs)
NM_001034853.2(RPGR):c.1978dup (p.Glu660fs)
NM_001034853.2(RPGR):c.1991C>G (p.Ser664Ter)
NM_001034853.2(RPGR):c.2031_2032del (p.Lys679fs)
NM_001034853.2(RPGR):c.2078_2148del (p.Glu693fs)
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter) rs2067193056
NM_001034853.2(RPGR):c.211dup (p.Ser71fs)
NM_001034853.2(RPGR):c.2167del (p.Arg723fs) rs2067190976
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.2252_2255del (p.Lys751fs) rs1475590979
NM_001034853.2(RPGR):c.2253_2260dup (p.Glu754fs)
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2268del (p.Glu757fs)
NM_001034853.2(RPGR):c.2283_2284del (p.Glu762fs) rs2067187127
NM_001034853.2(RPGR):c.2287G>T (p.Glu763Ter)
NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs)
NM_001034853.2(RPGR):c.2321_2334dup (p.Glu779fs)
NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs) rs2067185505
NM_001034853.2(RPGR):c.2344G>T (p.Gly782Trp)
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2395_2398dup (p.Glu800fs)
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2409del (p.Arg804fs) rs2067182990
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter) rs2147197770
NM_001034853.2(RPGR):c.2466del (p.Gly824fs)
NM_001034853.2(RPGR):c.2467A>T (p.Lys823Ter)
NM_001034853.2(RPGR):c.247+5G>A rs2067974156
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr) rs2067974263
NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs) rs2147197209
NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)
NM_001034853.2(RPGR):c.2485G>T (p.Glu829Ter)
NM_001034853.2(RPGR):c.2491dup (p.Glu831fs)
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
NM_001034853.2(RPGR):c.2501del (p.Glu834fs) rs2067178120
NM_001034853.2(RPGR):c.2530G>T (p.Glu844Ter)
NM_001034853.2(RPGR):c.2531A>G (p.Glu844Gly)
NM_001034853.2(RPGR):c.2540G>A (p.Gly847Glu)
NM_001034853.2(RPGR):c.2544G>A (p.Glu848=)
NM_001034853.2(RPGR):c.2547G>T (p.Gly849=)
NM_001034853.2(RPGR):c.2548G>A (p.Glu850Lys)
NM_001034853.2(RPGR):c.2552A>G (p.Glu851Gly)
NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys)
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.2572G>T (p.Gly858Trp)
NM_001034853.2(RPGR):c.2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs) rs2067169934
NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly)
NM_001034853.2(RPGR):c.2618_2620del (p.Glu873del)
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del) rs2067126569
NM_001034853.2(RPGR):c.2635del (p.Glu879fs)
NM_001034853.2(RPGR):c.2658G>T (p.Glu886Asp)
NM_001034853.2(RPGR):c.2664A>T (p.Glu888Asp)
NM_001034853.2(RPGR):c.2667G>A (p.Glu889=)
NM_001034853.2(RPGR):c.2681dup (p.Glu896fs)
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
NM_001034853.2(RPGR):c.2715A>G (p.Glu905=)
NM_001034853.2(RPGR):c.2715A>T (p.Glu905Asp)
NM_001034853.2(RPGR):c.2727del (p.Glu911fs)
NM_001034853.2(RPGR):c.2730_2731del (p.Glu911fs)
NM_001034853.2(RPGR):c.2753_2826dup (p.Asp943fs)
NM_001034853.2(RPGR):c.2760del (p.Glu922fs)
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
NM_001034853.2(RPGR):c.2796G>A (p.Gly932=)
NM_001034853.2(RPGR):c.2799A>T (p.Glu933Asp)
NM_001034853.2(RPGR):c.28+1G>T
NM_001034853.2(RPGR):c.2819A>C (p.Glu940Ala)
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2840del (p.Glu947fs)
NM_001034853.2(RPGR):c.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.284G>A (p.Gly95Glu)
NM_001034853.2(RPGR):c.2860G>T (p.Glu954Ter)
NM_001034853.2(RPGR):c.2872G>T (p.Glu958Ter)
NM_001034853.2(RPGR):c.2893G>T (p.Glu965Ter) rs1420285326
NM_001034853.2(RPGR):c.2899del (p.Glu967fs)
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.29-2A>G rs2147291936
NM_001034853.2(RPGR):c.29-6T>A
NM_001034853.2(RPGR):c.2915G>T (p.Gly972Val)
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_001034853.2(RPGR):c.2971G>T (p.Glu991Ter)
NM_001034853.2(RPGR):c.2983_2986dup (p.Glu996fs)
NM_001034853.2(RPGR):c.2992_2993del (p.Glu998fs)
NM_001034853.2(RPGR):c.2993_2997del (p.Glu998fs)
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
NM_001034853.2(RPGR):c.3007_3008del (p.Gly1003fs)
NM_001034853.2(RPGR):c.3011_3012del (p.Glu1004fs)
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) rs1569235565
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs) rs2067127718
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1]) rs201134185
NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter) rs1799325384
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs) rs2067124487
NM_001034853.2(RPGR):c.3085G>T (p.Glu1029Ter)
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.311-21_311-9delinsG
NM_001034853.2(RPGR):c.3114_3117del (p.Gly1039fs)
NM_001034853.2(RPGR):c.3134_3137del (p.Glu1045fs)
NM_001034853.2(RPGR):c.3222AGA[1] (p.Glu1076del)
NM_001034853.2(RPGR):c.3271del (p.Lys1090_Ile1091insTer)
NM_001034853.2(RPGR):c.3320C>A (p.Ser1107Ter)
NM_001034853.2(RPGR):c.3364del (p.Met1122fs)
NM_001034853.2(RPGR):c.3423G>C (p.Trp1141Cys)
NM_001034853.2(RPGR):c.353A>G (p.Gln118Arg)
NM_001034853.2(RPGR):c.370A>C (p.Thr124Pro)
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.379del (p.Arg127fs) rs2067877633
NM_001034853.2(RPGR):c.469G>T (p.Glu157Ter)
NM_001034853.2(RPGR):c.470-2A>G
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys) rs62638648
NM_001034853.2(RPGR):c.571C>T (p.Pro191Ser)
NM_001034853.2(RPGR):c.593G>A (p.Gly198Glu)
NM_001034853.2(RPGR):c.613del (p.Phe204_Val205insTer)
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_001034853.2(RPGR):c.805G>C (p.Gly269Arg)
NM_001034853.2(RPGR):c.878G>T (p.Arg293Met)
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr) rs62640590
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu) rs878853375
NM_001034853.2(RPGR):c.958G>A (p.Gly320Arg) rs62640593
NM_001034853.2(RPGR):c.983del (p.Gly328fs) rs1555965107
NM_001034853.2:c.(310+1_311-1)_(1414+1_1415-1)dup
NM_001034853.2:c.(778+1_779-1)_(1059+1_1060-1)del
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
NM_001039348.3(EFEMP1):c.1125-6C>G
NM_001039348.3(EFEMP1):c.343G>C (p.Gly115Arg)
NM_001039348.3(EFEMP1):c.61G>A (p.Glu21Lys)
NM_001039348.3(EFEMP1):c.761-9T>C
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.2(CLN3):c.295-2A>G
NM_001042432.2(CLN3):c.473C>A (p.Ala158Asp)
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2:c.(460+1_461-1)_(677+1_678-1)del
NM_001042472.3(ABHD12):c.625G>C (p.Gly209Arg)
NM_001083926.2(ASRGL1):c.191-1G>A
NM_001083926.2(ASRGL1):c.327G>T (p.Met109Ile)
NM_001098.3(ACO2):c.-8T>C
NM_001098.3(ACO2):c.1300C>T (p.Gln434Ter)
NM_001098.3(ACO2):c.1360C>T (p.Gln454Ter)
NM_001098.3(ACO2):c.1371-1G>C
NM_001098.3(ACO2):c.1483-5T>G
NM_001098.3(ACO2):c.197C>T (p.Ser66Leu)
NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) rs752034900
NM_001098.3(ACO2):c.1994A>G (p.Tyr665Cys)
NM_001098.3(ACO2):c.2006C>T (p.Ser669Leu) rs764832926
NM_001098.3(ACO2):c.2209-1G>T
NM_001098.3(ACO2):c.2275_2277del (p.Asn759del)
NM_001098.3(ACO2):c.2328_2331del (p.Lys776fs) rs786204830
NM_001098.3(ACO2):c.36G>A (p.Gln12=)
NM_001098.3(ACO2):c.740T>C (p.Val247Ala) rs750687436
NM_001098.3(ACO2):c.774A>T (p.Lys258Asn) rs751703387
NM_001099271.2(POC5):c.1324A>G (p.Arg442Gly)
NM_001099271.2(POC5):c.1336G>A (p.Ala446Thr) rs34678567
NM_001099271.2(POC5):c.1466G>A (p.Arg489Gln)
NM_001099271.2(POC5):c.1646C>T (p.Thr549Ile)
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1316G>A (p.Gly439Glu)
NM_001122769.3(LCA5):c.262C>T (p.Leu88Phe)
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001122769.3(LCA5):c.830A>G (p.Glu277Gly)
NM_001127649.3(PEX26):c.566A>G (p.Glu189Gly)
NM_001128178.3(NPHP1):c.341C>G (p.Pro114Arg)
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.790G>A (p.Val264Met) rs1559074346
NM_001128178.3(NPHP1):c.978T>G (p.Ile326Met)
NM_001134831.2(AHI1):c.1627-10G>A
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2512G>A (p.Val838Ile)
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.712A>C (p.Lys238Gln)
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001142800.2(EYS):c.1056+5G>C
NM_001142800.2(EYS):c.1299+3A>C
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1307_1310del (p.Cys436fs)
NM_001142800.2(EYS):c.1376del (p.Cys459fs)
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter)
NM_001142800.2(EYS):c.1459+1G>T
NM_001142800.2(EYS):c.150C>A (p.Cys50Ter)
NM_001142800.2(EYS):c.1529A>G (p.Asp510Gly)
NM_001142800.2(EYS):c.1697A>C (p.Asn566Thr)
NM_001142800.2(EYS):c.1699dup (p.Thr567fs)
NM_001142800.2(EYS):c.1762C>A (p.Pro588Thr)
NM_001142800.2(EYS):c.1786T>C (p.Tyr596His) rs1409350172
NM_001142800.2(EYS):c.2280_2283del (p.Ser761fs)
NM_001142800.2(EYS):c.2381G>A (p.Arg794Gln)
NM_001142800.2(EYS):c.2382-5T>A
NM_001142800.2(EYS):c.2799del (p.Ser934fs)
NM_001142800.2(EYS):c.2829T>A (p.Cys943Ter)
NM_001142800.2(EYS):c.2854del (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.2923T>A (p.Cys975Ser)
NM_001142800.2(EYS):c.3002G>A (p.Cys1001Tyr)
NM_001142800.2(EYS):c.3167G>T (p.Cys1056Phe)
NM_001142800.2(EYS):c.3304A>G (p.Thr1102Ala)
NM_001142800.2(EYS):c.3493T>C (p.Cys1165Arg)
NM_001142800.2(EYS):c.3503C>A (p.Ser1168Ter) rs894122437
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.3612_3625del (p.Pro1204_Asn1205insTer)
NM_001142800.2(EYS):c.3647A>C (p.Glu1216Ala)
NM_001142800.2(EYS):c.3779C>T (p.Thr1260Ile) rs759438157
NM_001142800.2(EYS):c.3954del (p.Leu1319fs)
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4392_4393del (p.Ala1465fs)
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) rs1582929649
NM_001142800.2(EYS):c.4727A>G (p.His1576Arg)
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter) rs2149831862
NM_001142800.2(EYS):c.4786T>G (p.Trp1596Gly)
NM_001142800.2(EYS):c.4815_4816delinsATAG (p.Thr1606Ter)
NM_001142800.2(EYS):c.5129del (p.Thr1710fs)
NM_001142800.2(EYS):c.5188G>A (p.Gly1730Arg)
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter) rs1766367970
NM_001142800.2(EYS):c.5546A>G (p.Gln1849Arg)
NM_001142800.2(EYS):c.5666del (p.Tyr1889fs)
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6078+3A>G rs1400181347
NM_001142800.2(EYS):c.607C>T (p.Gln203Ter) rs1766182274
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.6331G>A (p.Gly2111Arg)
NM_001142800.2(EYS):c.6365G>T (p.Gly2122Val)
NM_001142800.2(EYS):c.6482del (p.Phe2160_Leu2161insTer)
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs) rs1488052513
NM_001142800.2(EYS):c.6634G>C (p.Val2212Leu)
NM_001142800.2(EYS):c.6920G>A (p.Gly2307Asp) rs1171456122
NM_001142800.2(EYS):c.694del (p.Arg232fs)
NM_001142800.2(EYS):c.7131del (p.Asn2377fs)
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7352C>G (p.Ala2451Gly)
NM_001142800.2(EYS):c.788_789del (p.His263fs)
NM_001142800.2(EYS):c.8072-12T>G
NM_001142800.2(EYS):c.8122T>C (p.Ser2708Pro)
NM_001142800.2(EYS):c.8122_8125delinsG (p.Ser2708_Phe2709delinsVal) rs961817248
NM_001142800.2(EYS):c.819dup (p.Thr274fs)
NM_001142800.2(EYS):c.8636G>A (p.Cys2879Tyr)
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr) rs1582139965
NM_001142800.2(EYS):c.8945T>C (p.Ile2982Thr)
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) rs1225304963
NM_001142800.2(EYS):c.9053T>G (p.Leu3018Trp)
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9100_9103del (p.Tyr3034fs)
NM_001142800.2(EYS):c.9265G>A (p.Gly3089Ser)
NM_001142800.2(EYS):c.9305A>G (p.Glu3102Gly)
NM_001142800.2(EYS):c.9349_9358del (p.Phe3117fs)
NM_001142800.2:c.(1766+1_1767-1)_(2023+1_2024-1)del
NM_001142800.2:c.(1766+1_1767-1)_(3443+1_3444-1)del
NM_001142800.2:c.(2023+1_2024-1)_(2259+1_2260-1)del
NM_001142800.2:c.(2023+1_2024-1)_(2992+1_2993-1)del
NM_001142800.2:c.(2846+1_2847-1)_(3443+1_3444-1)del
NM_001142800.2:c.(5835+1_5836-1294)_(6078+1_6079-1)dup
NM_001142800.2:c.(6191+1_6192-1)_(6424+1_6425-1)dup
NM_001142800.2:c.(6424+1_6425-1)_(6571+1_6572-1)dup
NM_001142800.2:c.(6725+1_6726-1)_(6834+1_6835-1)dup
NM_001142800.2:c.(7228+1_7229-1)_(7898+1_7899-1)dup
NM_001164665.2(KIAA1549):c.1288C>T (p.Gln430Ter)
NM_001164665.2(KIAA1549):c.166C>A (p.Arg56=)
NM_001164665.2(KIAA1549):c.2504G>A (p.Gly835Asp)
NM_001164665.2(KIAA1549):c.2900A>G (p.Gln967Arg)
NM_001164665.2(KIAA1549):c.4427C>T (p.Pro1476Leu) rs201971426
NM_001164665.2(KIAA1549):c.509G>A (p.Arg170Gln)
NM_001164665.2(KIAA1549):c.676G>T (p.Ala226Ser)
NM_001164665.2(KIAA1549):c.679A>C (p.Ser227Arg)
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
NM_001164688.2(RD3):c.346del (p.Gln116fs)
NM_001164688.2(RD3):c.361G>A (p.Val121Met)
NM_001164688.2(RD3):c.3G>A (p.Met1Ile)
NM_001166114.2(PNPLA6):c.1608+11C>T rs368627125
NM_001166114.2(PNPLA6):c.2119C>T (p.Arg707Cys)
NM_001166114.2(PNPLA6):c.2281C>T (p.Pro761Ser)
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3134A>G (p.Tyr1045Cys)
NM_001166114.2(PNPLA6):c.643C>T (p.Arg215Trp)
NM_001170700.3(DTHD1):c.1585G>A (p.Asp529Asn)
NM_001170700.3(DTHD1):c.1746TGT[1] (p.Val584del) rs747697241
NM_001170700.3(DTHD1):c.497G>A (p.Gly166Glu)
NM_001171.6(ABCC6):c.1270G>A (p.Val424Ile)
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001171.6(ABCC6):c.3391T>C (p.Phe1131Leu)
NM_001171.6(ABCC6):c.346A>G (p.Ser116Gly)
NM_001171.6(ABCC6):c.3736-7_3736-6delinsAA
NM_001171971.3(CDHR1):c.2196T>A (p.Asn732Lys)
NM_001177701.3(IFT27):c.-1C>T
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.2005+6_2005+9del
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001201543.2(FAM161A):c.1109del (p.Asn370fs)
NM_001201543.2(FAM161A):c.1230G>T (p.Arg410Ser)
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.2034_2037del (p.Glu680fs) rs748147923
NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del) rs558080743
NM_001201543.2(FAM161A):c.332C>A (p.Ala111Glu)
NM_001201543.2(FAM161A):c.422+5G>T
NM_001201543.2(FAM161A):c.493C>T (p.Gln165Ter)
NM_001201543.2(FAM161A):c.730del (p.Gln243_Met244insTer) rs1167380267
NM_001242957.3(MAK):c.104T>A (p.Met35Lys)
NM_001242957.3(MAK):c.1051C>T (p.Gln351Ter)
NM_001242957.3(MAK):c.1465+2dup
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) rs1347914291
NM_001242957.3(MAK):c.1741C>T (p.Gln581Ter)
NM_001242957.3(MAK):c.388A>C (p.Asn130His) rs387906646
NM_001242957.3(MAK):c.455C>G (p.Ser152Ter)
NM_001242957.3(MAK):c.552G>C (p.Trp184Cys)
NM_001242957.3(MAK):c.668_671del (p.Asp223fs)
NM_001242957.3(MAK):c.790A>G (p.Met264Val)
NM_001242957.3(MAK):c.79G>C (p.Gly27Arg) rs754916169
NM_001242957.3:c.(831+1_832-1)_(1143+1_1144-1)del
NM_001243925.2(MAPKAPK3):c.239A>C (p.Lys80Thr)
NM_001244926.2(PRPF4):c.482A>G (p.Tyr161Cys)
NM_001244926.2(PRPF4):c.5C>T (p.Ala2Val)
NM_001244926.2(PRPF4):c.854C>T (p.Thr285Ile)
NM_001252024.2(TRPM1):c.1437+3A>T
NM_001252024.2(TRPM1):c.1623+4A>T
NM_001252024.2(TRPM1):c.2194A>G (p.Thr732Ala) rs1451287233
NM_001252024.2(TRPM1):c.2336T>C (p.Leu779Pro)
NM_001252024.2(TRPM1):c.2952G>A (p.Met984Ile)
NM_001252024.2(TRPM1):c.3399G>C (p.Met1133Ile)
NM_001252024.2(TRPM1):c.3613C>T (p.Arg1205Trp) rs1369436827
NM_001252024.2(TRPM1):c.3907G>C (p.Glu1303Gln) rs117855013
NM_001252024.2(TRPM1):c.736G>A (p.Val246Met)
NM_001252024.2(TRPM1):c.833G>A (p.Gly278Glu)
NM_001256789.3(CACNA1F):c.1079C>T (p.Ser360Phe)
NM_001256789.3(CACNA1F):c.1687G>A (p.Val563Met)
NM_001256789.3(CACNA1F):c.2381G>T (p.Gly794Val)
NM_001256789.3(CACNA1F):c.2391GGA[8] (p.Glu814dup) rs112450928
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.2882G>A (p.Arg961Gln)
NM_001256789.3(CACNA1F):c.2900G>A (p.Arg967Gln)
NM_001256789.3(CACNA1F):c.3090-23_3104del
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3159C>A (p.Asn1053Lys)
NM_001256789.3(CACNA1F):c.367G>T (p.Ala123Ser) rs2065875840
NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter) rs2065670611
NM_001256789.3(CACNA1F):c.3863G>C (p.Arg1288Pro) rs1316183278
NM_001256789.3(CACNA1F):c.3907C>T (p.Arg1303Cys)
NM_001256789.3(CACNA1F):c.4082C>T (p.Ala1361Val)
NM_001256789.3(CACNA1F):c.4100+2T>C
NM_001256789.3(CACNA1F):c.4157G>T (p.Arg1386Leu)
NM_001256789.3(CACNA1F):c.4466C>G (p.Pro1489Arg)
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.4921del (p.Glu1641fs)
NM_001256789.3(CACNA1F):c.5207dup (p.Asp1736fs)
NM_001256789.3(CACNA1F):c.5743G>A (p.Ala1915Thr)
NM_001256789.3(CACNA1F):c.605T>A (p.Val202Glu)
NM_001256789.3(CACNA1F):c.672_673del (p.Ile225fs)
NM_001256964.2(CCDC51):c.1007G>A (p.Gly336Glu)
NM_001256964.2(CCDC51):c.278A>G (p.Asn93Ser)
NM_001267727.2(ARSG):c.889C>G (p.Leu297Val)
NM_001267727.2(ARSG):c.901+5A>G
NM_001278293.3(ARL6):c.186-2A>C
NM_001278293.3(ARL6):c.294T>G (p.Asp98Glu)
NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)
NM_001278293.3(ARL6):c.482C>T (p.Ala161Val) rs1188627299
NM_001278431.2(C1QTNF5):c.236A>G (p.Asp79Gly) rs746399664
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr) rs1591299252
NM_001278431.2(C1QTNF5):c.66C>G (p.Asn22Lys) rs761587369
NM_001278431.2(C1QTNF5):c.70A>G (p.Ile24Val)
NM_001278431.2(C1QTNF5):c.71T>C (p.Ile24Thr)
NM_001278431.2(C1QTNF5):c.76A>G (p.Ser26Gly)
NM_001278431.2(C1QTNF5):c.83G>A (p.Cys28Tyr)
NM_001297.5(CNGB1):c.1080AGAGGA[1] (p.Glu370_Glu371del) rs750979647
NM_001297.5(CNGB1):c.1320G>A (p.Trp440Ter)
NM_001297.5(CNGB1):c.1684del (p.Ala562fs) rs2149366536
NM_001297.5(CNGB1):c.178_183delinsCCCCCGAA (p.Lys60fs)
NM_001297.5(CNGB1):c.1811del (p.Lys604fs)
NM_001297.5(CNGB1):c.1896C>G (p.Cys632Trp)
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001297.5(CNGB1):c.202G>C (p.Asp68His)
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) rs1210263161
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001297.5(CNGB1):c.2527dup (p.Leu843fs) rs1451575280
NM_001297.5(CNGB1):c.2542G>A (p.Gly848Arg)
NM_001297.5(CNGB1):c.2600C>A (p.Thr867Lys)
NM_001297.5(CNGB1):c.2645T>C (p.Val882Ala)
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs) rs1365926616
NM_001297.5(CNGB1):c.3148G>A (p.Gly1050Arg)
NM_001297.5(CNGB1):c.3242+1G>C
NM_001297.5(CNGB1):c.3319A>G (p.Lys1107Glu)
NM_001297.5(CNGB1):c.3442C>T (p.Gln1148Ter)
NM_001297.5(CNGB1):c.3541A>G (p.Thr1181Ala)
NM_001297.5(CNGB1):c.3574C>T (p.Pro1192Ser)
NM_001297.5(CNGB1):c.584-10C>A
NM_001297.5(CNGB1):c.879C>T (p.Ser293=)
NM_001298.3(CNGA3):c.1091C>A (p.Thr364Asn)
NM_001298.3(CNGA3):c.1126GAG[1] (p.Glu377del)
NM_001298.3(CNGA3):c.1412A>G (p.Asn471Ser)
NM_001298.3(CNGA3):c.1456T>C (p.Cys486Arg)
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg) rs2104250058
NM_001298.3(CNGA3):c.1749del (p.Leu584fs) rs2104250161
NM_001298.3(CNGA3):c.1855G>A (p.Ala619Thr)
NM_001298.3(CNGA3):c.271C>T (p.Gln91Ter)
NM_001298.3(CNGA3):c.400T>C (p.Trp134Arg)
NM_001298.3(CNGA3):c.542A>G (p.Tyr181Cys) rs1692740329
NM_001298.3(CNGA3):c.586C>T (p.Gln196Ter)
NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala) rs2104236067
NM_001298.3(CNGA3):c.784G>C (p.Ala262Pro)
NM_001298.3(CNGA3):c.811C>T (p.Pro271Ser)
NM_001312673.2(PCYT1A):c.121T>G (p.Leu41Val)
NM_001312673.2(PCYT1A):c.486+1G>C
NM_001319074.4(RAX2):c.*7C>A
NM_001319074.4(RAX2):c.116T>C (p.Leu39Pro) rs752094189
NM_001319074.4(RAX2):c.247C>T (p.Arg83Cys)
NM_001319074.4(RAX2):c.466G>A (p.Ala156Thr)
NM_001319074.4(RAX2):c.515A>G (p.Glu172Gly)
NM_001321103.2(SLC4A7):c.1504A>G (p.Thr502Ala)
NM_001321103.2(SLC4A7):c.1714A>G (p.Thr572Ala)
NM_001321103.2(SLC4A7):c.299C>T (p.Ser100Phe)
NM_001321103.2(SLC4A7):c.812G>A (p.Arg271Gln)
NM_001329556.3(REEP6):c.557C>T (p.Pro186Leu) rs770429286
NM_001330691.3(CEP78):c.1129T>C (p.Tyr377His)
NM_001330691.3(CEP78):c.1165T>C (p.Phe389Leu)
NM_001330691.3(CEP78):c.1220_1223del (p.Ile407fs)
NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter)
NM_001330691.3(CEP78):c.1459-1G>T rs2118460550
NM_001330691.3(CEP78):c.1785G>A (p.Met595Ile)
NM_001330691.3(CEP78):c.283dup (p.Arg95fs) rs1826148463
NM_001330691.3(CEP78):c.40del (p.Asp14fs)
NM_001330691.3(CEP78):c.454C>T (p.His152Tyr)
NM_001330691.3(CEP78):c.633del (p.Trp212fs) rs1057517692
NM_001330691.3(CEP78):c.70G>A (p.Ala24Thr)
NM_001346022.3(USP45):c.1008del (p.Val337fs) rs554927779
NM_001346022.3(USP45):c.1082C>T (p.Thr361Met)
NM_001346022.3(USP45):c.1794T>G (p.Tyr598Ter) rs766826756
NM_001346022.3(USP45):c.2039C>T (p.Ala680Val)
NM_001346022.3(USP45):c.2073+1G>T
NM_001346022.3(USP45):c.2190C>A (p.Tyr730Ter)
NM_001346022.3(USP45):c.2320A>T (p.Lys774Ter)
NM_001346022.3(USP45):c.341A>G (p.His114Arg)
NM_001346022.3(USP45):c.597C>G (p.Cys199Trp)
NM_001346022.3(USP45):c.658G>T (p.Glu220Ter)
NM_001346022.3(USP45):c.7del (p.Arg2_Val3insTer)
NM_001349884.2(DRAM2):c.231A>T (p.Gln77His)
NM_001354768.3(NRL):c.104dup (p.Thr36fs) rs1566561006
NM_001354768.3(NRL):c.148T>C (p.Ser50Pro)
NM_001354768.3(NRL):c.152C>A (p.Pro51His) rs2036353653
NM_001354768.3(NRL):c.382-7T>A
NM_001354768.3(NRL):c.452_459dup (p.Arg154fs)
NM_001354768.3(NRL):c.512_513delinsTT (p.Gly171Val)
NM_001367823.1(ARHGEF18):c.1673A>G (p.Asn558Ser)
NM_001367823.1(ARHGEF18):c.2002A>C (p.Lys668Gln)
NM_001367823.1(ARHGEF18):c.2377G>A (p.Glu793Lys)
NM_001367823.1(ARHGEF18):c.2697C>G (p.Asp899Glu)
NM_001367823.1(ARHGEF18):c.3559G>C (p.Val1187Leu) rs754464153
NM_001367823.1(ARHGEF18):c.3719C>T (p.Ala1240Val)
NM_001367823.1(ARHGEF18):c.3986del (p.Gly1329fs) rs776138789
NM_001371596.2(MFSD8):c.1024G>C (p.Gly342Arg)
NM_001371596.2(MFSD8):c.1445G>C (p.Arg482Pro)
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln) rs139409959
NM_001371596.2(MFSD8):c.438A>G (p.Ala146=)
NM_001371596.2(MFSD8):c.673ATT[1] (p.Ile226del)
NM_001371596.2(MFSD8):c.710T>G (p.Val237Gly)
NM_001371596.2(MFSD8):c.754+1G>T rs868732642
NM_001371596.2(MFSD8):c.854_863+31del
NM_001377.3(DYNC2H1):c.10642A>G (p.Ile3548Val)
NM_001377.3(DYNC2H1):c.11838G>C (p.Gln3946His)
NM_001377.3(DYNC2H1):c.12528A>C (p.Pro4176=)
NM_001377.3(DYNC2H1):c.12623T>G (p.Leu4208Arg)
NM_001377.3(DYNC2H1):c.1858-4G>A
NM_001377.3(DYNC2H1):c.3127C>T (p.Arg1043Cys)
NM_001377.3(DYNC2H1):c.3437A>G (p.Asn1146Ser)
NM_001377.3(DYNC2H1):c.3492del (p.Met1164fs)
NM_001377.3(DYNC2H1):c.5266A>T (p.Met1756Leu)
NM_001377.3(DYNC2H1):c.6348-3del
NM_001377.3(DYNC2H1):c.652C>G (p.Leu218Val)
NM_001377295.2(GNAT2):c.-28dup
NM_001377295.2(GNAT2):c.172C>T (p.Gln58Ter)
NM_001377295.2(GNAT2):c.257G>C (p.Arg86Pro) rs140250745
NM_001377295.2(GNAT2):c.503del (p.Leu168fs)
NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys) rs1557918635
NM_001377295.2(GNAT2):c.725G>A (p.Arg242His)
NM_001377405.1(ATXN7):c.118_119insAGCAGCAGCCGC (p.Gln39_Pro40insGlnGlnGlnPro)
NM_001377405.1(ATXN7):c.2459dup (p.Ser821fs)
NM_001377405.1(ATXN7):c.2558C>G (p.Pro853Arg)
NM_001377405.1(ATXN7):c.89AGC[11] (p.Gln39_Pro40insGln)
NM_001377405.1(ATXN7):c.89AGC[12] (p.Gln38_Gln39dup) rs193922929
NM_001377405.1(ATXN7):c.89AGC[13] (p.Gln39_Pro40insGlnGlnGln)
NM_001377405.1(ATXN7):c.89AGC[16] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGln)
NM_001377458.1(CLCC1):c.523G>A (p.Glu175Lys)
NM_001378454.1(ALMS1):c.10264G>T (p.Glu3422Ter)
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)
NM_001378454.1(ALMS1):c.1422T>G (p.His474Gln)
NM_001378454.1(ALMS1):c.1511C>G (p.Ser504Ter)
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1987A>G (p.Thr663Ala)
NM_001378454.1(ALMS1):c.2927_2930dup (p.Ser978fs)
NM_001378454.1(ALMS1):c.3221_3222del (p.Leu1074fs)
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.36GGA[7] (p.Glu23_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3761C>G (p.Pro1254Arg)
NM_001378454.1(ALMS1):c.4139C>G (p.Ser1380Cys)
NM_001378454.1(ALMS1):c.49_50insTGG (p.Glu16_Glu17insVal)
NM_001378454.1(ALMS1):c.509_510del (p.Thr170fs)
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.6976dup (p.Ser2326fs)
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8509C>G (p.Gln2837Glu)
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs) rs2103892422
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)
NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly) rs1573013147
NM_001378454.1:c.(12298+1_12299-1)_(12362+1_12363-1)del
NM_001378477.3(NYX):c.1009T>C (p.Cys337Arg)
NM_001378477.3(NYX):c.1080G>A (p.Pro360=)
NM_001378477.3(NYX):c.285_286insG (p.Ile96fs)
NM_001378477.3(NYX):c.476T>G (p.Leu159Arg)
NM_001378477.3(NYX):c.509C>G (p.Pro170Arg) rs62637025
NM_001378477.3(NYX):c.571G>C (p.Ala191Pro)
NM_001378477.3(NYX):c.770del (p.Gly257fs) rs2147026037
NM_001378477.3(NYX):c.81del (p.Ala28fs)
NM_001378477.3(NYX):c.865G>A (p.Glu289Lys)
NM_001378477.3(NYX):c.880C>T (p.Gln294Ter)
NM_001378477.3(NYX):c.944_971del (p.Val315fs)
NM_001378477.3(NYX):c.992A>C (p.Asn331Thr)
NM_001378615.1(CC2D2A):c.1017+3A>T
NM_001378615.1(CC2D2A):c.123+5G>C
NM_001378615.1(CC2D2A):c.1738C>T (p.Gln580Ter)
NM_001378615.1(CC2D2A):c.2714T>A (p.Leu905Ter)
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter) rs781206278
NM_001378615.1(CC2D2A):c.3083G>A (p.Arg1028Gln)
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3182+1G>T
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His)
NM_001378615.1(CC2D2A):c.934G>A (p.Glu312Lys) rs1716841949
NM_001379270.1(CNGA1):c.-15+10296G>A
NM_001379270.1(CNGA1):c.-15+10379C>T
NM_001379270.1(CNGA1):c.1033T>C (p.Tyr345His)
NM_001379270.1(CNGA1):c.1159A>G (p.Thr387Ala)
NM_001379270.1(CNGA1):c.1535T>C (p.Met512Thr)
NM_001379270.1(CNGA1):c.1774G>T (p.Glu592Ter)
NM_001379270.1(CNGA1):c.179G>A (p.Gly60Asp)
NM_001379270.1(CNGA1):c.1967C>T (p.Thr656Ile)
NM_001379270.1(CNGA1):c.640C>G (p.Arg214Gly)
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg) rs2151705854
NM_001379286.1(ZNF423):c.542G>A (p.Arg181His)
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg) rs2129554180
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
NM_001382391.1(CSPP1):c.2516A>G (p.Asn839Ser)
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
NM_001382391.1(CSPP1):c.3478A>G (p.Ser1160Gly)
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
NM_001384140.1(PCDH15):c.1881A>T (p.Glu627Asp)
NM_001384140.1(PCDH15):c.2069C>T (p.Ala690Val)
NM_001384140.1(PCDH15):c.2110A>T (p.Asn704Tyr)
NM_001384140.1(PCDH15):c.3718-3C>G
NM_001384140.1(PCDH15):c.4162T>A (p.Cys1388Ser)
NM_001384140.1(PCDH15):c.4326_4328dup (p.Pro1443_Gly1444insPro)
NM_001384910.1(GUCA1A):c.119G>T (p.Arg40Leu) rs186171388
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_001384910.1(GUCA1A):c.305A>G (p.Asp102Gly)
NM_001384910.1(GUCA1A):c.312C>A (p.Asn104Lys) rs749013749
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr) rs869320710
NM_001384910.1(GUCA1A):c.430G>A (p.Asp144Asn)
NM_001384910.1(GUCA1A):c.431A>C (p.Asp144Ala)
NM_001384910.1(GUCA1A):c.451C>T (p.Leu151Phe) rs121434631
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_001384910.1(GUCA1A):c.527T>C (p.Leu176Pro)
NM_001385641.1(SAMD11):c.1001C>T (p.Pro334Leu)
NM_001385641.1(SAMD11):c.1045G>C (p.Glu349Gln) rs200099017
NM_001385641.1(SAMD11):c.1451C>T (p.Pro484Leu) rs200038862
NM_001385641.1(SAMD11):c.1516T>G (p.Trp506Gly)
NM_001385641.1(SAMD11):c.1565C>T (p.Pro522Leu)
NM_001385641.1(SAMD11):c.1827G>C (p.Glu609Asp)
NM_001385641.1(SAMD11):c.1871C>T (p.Ser624Leu)
NM_001385641.1(SAMD11):c.2226G>A (p.Thr742=) rs531354544
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)
NM_001386393.1(PANK2):c.535A>G (p.Thr179Ala)
NM_001563.4(IMPG1):c.1276G>A (p.Glu426Lys)
NM_001563.4(IMPG1):c.1678A>G (p.Thr560Ala) rs1782011153
NM_001563.4(IMPG1):c.361G>C (p.Gly121Arg)
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) rs373792616
NM_001563.4(IMPG1):c.470G>T (p.Arg157Ile)
NM_001563.4(IMPG1):c.498-1G>C
NM_001563.4(IMPG1):c.561A>G (p.Thr187=)
NM_001563.4(IMPG1):c.713T>C (p.Leu238Pro) rs713993045
NM_001563.4(IMPG1):c.807+5G>A rs2149482319
NM_001563.4(IMPG1):c.846A>C (p.Lys282Asn)
NM_001621.5(AHR):c.1405C>T (p.Leu469Phe)
NM_001621.5(AHR):c.1724T>G (p.Ile575Ser)
NM_001621.5(AHR):c.1948A>G (p.Met650Val)
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys) rs766325919
NM_001793.6(CDH3):c.1183-2A>G
NM_001793.6(CDH3):c.1413T>G (p.Asn471Lys)
NM_001793.6(CDH3):c.1519C>T (p.Gln507Ter) rs1961376390
NM_001793.6(CDH3):c.1837dup (p.Asp613fs) rs1157340043
NM_001793.6(CDH3):c.2315C>T (p.Pro772Leu)
NM_001793.6(CDH3):c.2365G>A (p.Ala789Thr) rs775074404
NM_001793.6(CDH3):c.461del (p.Pro154fs)
NM_001793.6(CDH3):c.692-1G>T
NM_001844.5(COL2A1):c.1116del (p.Ala373fs)
NM_001844.5(COL2A1):c.1787G>A (p.Arg596His) rs1057524199
NM_001844.5(COL2A1):c.3155C>T (p.Ala1052Val)
NM_001844.5(COL2A1):c.4150G>A (p.Glu1384Lys)
NM_001844.5(COL2A1):c.766del (p.Glu256fs)
NM_001851.6(COL9A1):c.115G>A (p.Gly39Ser)
NM_001851.6(COL9A1):c.23C>T (p.Pro8Leu)
NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)
NM_001854.4(COL11A1):c.1417C>A (p.Pro473Thr) rs1180040869
NM_001854.4(COL11A1):c.2862+3A>G
NM_001854.4(COL11A1):c.3251G>A (p.Gly1084Asp)
NM_001854.4(COL11A1):c.329G>C (p.Gly110Ala)
NM_001854.4(COL11A1):c.3691G>T (p.Gly1231Cys)
NM_001903.5(CTNNA1):c.1206G>A (p.Leu402=) rs1052655356
NM_001903.5(CTNNA1):c.344C>G (p.Pro115Arg)
NM_001903.5(CTNNA1):c.781G>A (p.Ala261Thr)
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_002098.6(GUCA1B):c.260G>A (p.Arg87Lys)
NM_002098.6(GUCA1B):c.357+6_357+8delinsCAG
NM_002098.6(GUCA1B):c.539T>C (p.Leu180Pro)
NM_002098.6(GUCA1B):c.68A>G (p.Glu23Gly)
NM_002109.6(HARS1):c.872A>C (p.Gln291Pro)
NM_002242.4(KCNJ13):c.479T>C (p.Ile160Thr) rs564363265
NM_002335.4(LRP5):c.1291T>C (p.Tyr431His)
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) rs373910016
NM_002335.4(LRP5):c.1400A>G (p.His467Arg)
NM_002335.4(LRP5):c.1428A>C (p.Thr476=)
NM_002335.4(LRP5):c.1732C>T (p.Arg578Trp)
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg) rs1565083843
NM_002335.4(LRP5):c.211_212del (p.Gln71fs)
NM_002335.4(LRP5):c.2227G>A (p.Glu743Lys) rs2098658550
NM_002335.4(LRP5):c.2255G>A (p.Arg752Gln)
NM_002335.4(LRP5):c.2409_2503+79del
NM_002335.4(LRP5):c.2496C>G (p.Asn832Lys)
NM_002335.4(LRP5):c.2576A>G (p.Tyr859Cys)
NM_002335.4(LRP5):c.3085_3086delinsAGGCAGCATCGACAAAACCCAGACAGG (p.Leu1029fs)
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr) rs1272835374
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup) rs72555376
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup) rs72555376
NM_002335.4(LRP5):c.3683G>C (p.Cys1228Ser) rs2098670820
NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu) rs764259701
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del) rs774251511
NM_002335.4(LRP5):c.4488+2T>G rs80358322
NM_002497.4(NEK2):c.202G>A (p.Val68Ile)
NM_002497.4(NEK2):c.493A>T (p.Ile165Leu)
NM_002497.4(NEK2):c.775C>T (p.Arg259Ter) rs761216195
NM_002602.4(PDE6G):c.146+1G>T
NM_002764.4(PRPS1):c.383A>T (p.Asp128Val) rs2147682409
NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln) rs867288458
NM_002900.3(RBP3):c.1068C>G (p.Ser356Arg) rs532818776
NM_002900.3(RBP3):c.1113G>C (p.Lys371Asn)
NM_002900.3(RBP3):c.1343C>T (p.Ala448Val)
NM_002900.3(RBP3):c.1366T>A (p.Leu456Met)
NM_002900.3(RBP3):c.1618C>T (p.Leu540Phe)
NM_002900.3(RBP3):c.1637C>T (p.Ala546Val)
NM_002900.3(RBP3):c.2348G>A (p.Arg783His)
NM_002900.3(RBP3):c.3221C>T (p.Thr1074Met)
NM_002900.3(RBP3):c.3253A>G (p.Ile1085Val)
NM_002900.3(RBP3):c.3432C>A (p.Ser1144Arg)
NM_002900.3(RBP3):c.3661G>A (p.Glu1221Lys) rs555568551
NM_002900.3(RBP3):c.3681G>C (p.Lys1227Asn)
NM_002900.3(RBP3):c.421C>T (p.Gln141Ter)
NM_002900.3(RBP3):c.633G>A (p.Trp211Ter)
NM_002900.3(RBP3):c.759C>G (p.Ile253Met)
NM_002905.5(RDH5):c.602C>T (p.Ser201Phe)
NM_002929.3(GRK1):c.1282G>A (p.Glu428Lys)
NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys) rs765070399
NM_002929.3(GRK1):c.1447G>T (p.Asp483Tyr)
NM_002929.3(GRK1):c.1607C>T (p.Ser536Leu)
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_002929.3(GRK1):c.1622C>T (p.Pro541Leu)
NM_002929.3(GRK1):c.637G>A (p.Gly213Ser)
NM_002929.3(GRK1):c.699+7A>G
NM_002929.3(GRK1):c.993C>A (p.Val331=)
NM_003119.4(SPG7):c.1048C>G (p.Pro350Ala) rs199789849
NM_003119.4(SPG7):c.2219A>G (p.Tyr740Cys)
NM_003119.4(SPG7):c.694del (p.Glu232fs)
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup) rs781285980
NM_003143.3(SSBP1):c.13C>T (p.Pro5Ser)
NM_003143.3(SSBP1):c.24+3dup
NM_003320.5(TUB):c.-8T>G
NM_003320.5(TUB):c.51G>C (p.Glu17Asp)
NM_003322.6(TULP1):c.1010T>C (p.Leu337Ser) rs749227332
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) rs763272975
NM_003322.6(TULP1):c.1081C>T (p.Arg361Ter)
NM_003322.6(TULP1):c.1102G>C (p.Gly368Arg)
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1113-2A>G
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter) rs1761021773
NM_003322.6(TULP1):c.1382del (p.Leu461fs)
NM_003322.6(TULP1):c.1394C>G (p.Pro465Arg)
NM_003322.6(TULP1):c.1450A>C (p.Thr484Pro)
NM_003322.6(TULP1):c.1495+2dup rs1581735836
NM_003322.6(TULP1):c.1550A>G (p.Asp517Gly)
NM_003322.6(TULP1):c.349+2T>C
NM_003322.6(TULP1):c.499+5G>T
NM_003322.6(TULP1):c.718+2T>C rs1581742970
NM_003322.6(TULP1):c.916C>T (p.Arg306Cys)
NM_003322.6(TULP1):c.917G>A (p.Arg306His)
NM_003611.3(OFD1):c.963_964del (p.His321fs)
NM_003816.3(ADAM9):c.122CTT[1] (p.Ser42del)
NM_003816.3(ADAM9):c.2020G>T (p.Glu674Ter)
NM_003816.3:c.(672+1_673-1)_(914+1_915-1)del
NM_003835.4(RGS9):c.1325C>T (p.Ser442Phe)
NM_003835.4(RGS9):c.16C>T (p.Gln6Ter)
NM_003835.4(RGS9):c.1714G>A (p.Ala572Thr) rs561742242
NM_003835.4(RGS9):c.1726G>T (p.Ala576Ser)
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly) rs797044755
NM_004055.5(CAPN5):c.1136A>G (p.Asn379Ser)
NM_004055.5(CAPN5):c.1280A>C (p.Asp427Ala)
NM_004055.5(CAPN5):c.1487G>A (p.Arg496Gln)
NM_004055.5(CAPN5):c.1617T>G (p.Tyr539Ter)
NM_004055.5(CAPN5):c.1649G>T (p.Arg550Leu)
NM_004055.5(CAPN5):c.773A>G (p.Asp258Gly)
NM_004055.5(CAPN5):c.842G>A (p.Arg281His) rs369224922
NM_004055.5(CAPN5):c.91del (p.Leu31fs) rs781925553
NM_004183.4(BEST1):c.1014_1015delinsCT (p.Trp338_Asn339delinsCysTyr) rs2134455849
NM_004183.4(BEST1):c.1024G>A (p.Glu342Lys) rs202234687
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.106T>A (p.Phe36Ile)
NM_004183.4(BEST1):c.1117_1118insG (p.Met373fs)
NM_004183.4(BEST1):c.1120dup (p.Glu374fs) rs766357080
NM_004183.4(BEST1):c.1267G>T (p.Glu423Ter)
NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter) rs1942169028
NM_004183.4(BEST1):c.1391A>G (p.Tyr464Cys)
NM_004183.4(BEST1):c.1403C>A (p.Pro468Gln)
NM_004183.4(BEST1):c.1403C>T (p.Pro468Leu) rs747043918
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.153-2_158del
NM_004183.4(BEST1):c.173A>T (p.Gln58Leu) rs281865529
NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.17C>T (p.Thr6Ile)
NM_004183.4(BEST1):c.194dup (p.Thr66fs)
NM_004183.4(BEST1):c.199_200del (p.Leu67fs)
NM_004183.4(BEST1):c.200T>C (p.Leu67Pro)
NM_004183.4(BEST1):c.203A>G (p.Tyr68Cys)
NM_004183.4(BEST1):c.217A>C (p.Ile73Leu) rs281865220
NM_004183.4(BEST1):c.218T>C (p.Ile73Thr)
NM_004183.4(BEST1):c.248-3C>T
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.256G>A (p.Val86Met) rs121918289
NM_004183.4(BEST1):c.25G>A (p.Val9Met) rs28940276
NM_004183.4(BEST1):c.25G>C (p.Val9Leu) rs28940276
NM_004183.4(BEST1):c.277T>C (p.Trp93Arg) rs1941252350
NM_004183.4(BEST1):c.279G>T (p.Trp93Cys)
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg) rs1225032182
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004183.4(BEST1):c.28G>A (p.Ala10Thr) rs281865206
NM_004183.4(BEST1):c.297C>A (p.Asn99Lys) rs281865227
NM_004183.4(BEST1):c.299T>G (p.Leu100Arg) rs281865228
NM_004183.4(BEST1):c.302C>G (p.Pro101Arg) rs374517178
NM_004183.4(BEST1):c.304T>C (p.Trp102Arg) rs281865230
NM_004183.4(BEST1):c.313C>G (p.Arg105Gly) rs281865273
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004183.4(BEST1):c.346_355dup (p.Glu119fs)
NM_004183.4(BEST1):c.352G>C (p.Asp118His)
NM_004183.4(BEST1):c.419T>C (p.Leu140Pro)
NM_004183.4(BEST1):c.428T>C (p.Val143Ala)
NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)
NM_004183.4(BEST1):c.432C>A (p.Ser144Arg)
NM_004183.4(BEST1):c.44G>A (p.Gly15Asp) rs766379510
NM_004183.4(BEST1):c.454C>T (p.Pro152Ser)
NM_004183.4(BEST1):c.524del (p.Ser175fs)
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del) rs775979290
NM_004183.4(BEST1):c.535A>G (p.Asn179Asp) rs1555099968
NM_004183.4(BEST1):c.590_615del (p.Leu197fs)
NM_004183.4(BEST1):c.599G>A (p.Arg200Gln)
NM_004183.4(BEST1):c.602T>G (p.Ile201Ser)
NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)
NM_004183.4(BEST1):c.652C>A (p.Arg218Ser) rs281865238
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.676G>A (p.Ala226Thr)
NM_004183.4(BEST1):c.680A>T (p.Tyr227Phe)
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.695T>A (p.Ile232Asn)
NM_004183.4(BEST1):c.700C>G (p.Leu234Val) rs2134440476
NM_004183.4(BEST1):c.704T>G (p.Val235Gly)
NM_004183.4(BEST1):c.709A>T (p.Thr237Ser) rs2134440586
NM_004183.4(BEST1):c.710C>G (p.Thr237Arg) rs281865246
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg) rs1941503926
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn) rs281865247
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.72G>T (p.Trp24Cys) rs281865213
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp) rs281865214
NM_004183.4(BEST1):c.779del (p.Pro260fs) rs778645644
NM_004183.4(BEST1):c.80G>C (p.Ser27Thr)
NM_004183.4(BEST1):c.81C>G (p.Ser27Arg) rs281865216
NM_004183.4(BEST1):c.842TCT[2] (p.Phe283del) rs281865532
NM_004183.4(BEST1):c.848T>G (p.Phe283Cys)
NM_004183.4(BEST1):c.853G>A (p.Val285Ile)
NM_004183.4(BEST1):c.867+3G>A
NM_004183.4(BEST1):c.877C>A (p.Gln293Lys) rs281865250
NM_004183.4(BEST1):c.880C>T (p.Leu294Phe)
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.884T>C (p.Ile295Thr) rs281865253
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) rs281865255
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys) rs1554963058
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004183.4(BEST1):c.893T>C (p.Phe298Ser) rs281865257
NM_004183.4(BEST1):c.896G>A (p.Gly299Glu) rs28941468
NM_004183.4(BEST1):c.901G>A (p.Asp301Asn) rs281865259
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu) rs281865261
NM_004183.4(BEST1):c.904G>C (p.Asp302His) rs281865262
NM_004183.4(BEST1):c.905A>C (p.Asp302Ala) rs281865263
NM_004183.4(BEST1):c.906T>G (p.Asp302Glu)
NM_004183.4(BEST1):c.908A>G (p.Asp303Gly)
NM_004183.4(BEST1):c.914T>C (p.Phe305Ser) rs281865265
NM_004183.4(BEST1):c.91C>A (p.Leu31Met)
NM_004183.4(BEST1):c.920C>A (p.Thr307Asn)
NM_004183.4(BEST1):c.925T>C (p.Trp309Arg)
NM_004183.4(BEST1):c.929T>C (p.Ile310Thr) rs281865271
NM_004183.4(BEST1):c.932T>G (p.Val311Gly)
NM_004183.4(BEST1):c.939G>T (p.Arg313Ser)
NM_004183.4(BEST1):c.948+1G>A
NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) rs1554963305
NM_004183.4(BEST1):c.968A>T (p.Asp323Val) rs752756768
NM_004183.4(BEST1):c.98A>G (p.Tyr33Cys)
NM_004249.4(RAB28):c.580G>A (p.Val194Ile)
NM_004311.4(ARL3):c.315+6T>C
NM_004311.4(ARL3):c.82G>A (p.Ala28Thr) rs1249451954
NM_004385.5(VCAN):c.110C>T (p.Ser37Phe)
NM_004385.5(VCAN):c.4170AGA[4] (p.Glu1395del) rs752532806
NM_004385.5(VCAN):c.5086C>G (p.Pro1696Ala)
NM_004385.5(VCAN):c.5666C>T (p.Thr1889Ile) rs780568053
NM_004385.5(VCAN):c.6155A>G (p.Asn2052Ser)
NM_004385.5(VCAN):c.703C>T (p.Pro235Ser)
NM_004385.5(VCAN):c.8033G>C (p.Ser2678Thr)
NM_004385.5(VCAN):c.8366A>G (p.Asp2789Gly)
NM_004385.5(VCAN):c.8453C>T (p.Ala2818Val)
NM_004385.5(VCAN):c.9422C>A (p.Thr3141Asn)
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter)
NM_004523.4(KIF11):c.229A>G (p.Lys77Glu)
NM_004523.4(KIF11):c.308+2dup
NM_004523.4(KIF11):c.327T>G (p.Thr109=)
NM_004523.4(KIF11):c.693C>G (p.Tyr231Ter)
NM_004523.4(KIF11):c.942_946delinsGTA (p.Lys315fs)
NM_004698.4(PRPF3):c.1108C>T (p.Leu370Phe)
NM_004698.4(PRPF3):c.1180A>G (p.Ile394Val)
NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser) rs121434242
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004698.4(PRPF3):c.1680T>G (p.Ile560Met) rs1553872870
NM_004698.4(PRPF3):c.2018C>T (p.Ala673Val)
NM_004698.4(PRPF3):c.367C>G (p.Pro123Ala)
NM_004698.4(PRPF3):c.667C>T (p.Leu223Phe)
NM_004727.3(SLC24A1):c.1132_1133del (p.Ser378fs) rs1566947860
NM_004727.3(SLC24A1):c.219G>T (p.Met73Ile)
NM_004727.3(SLC24A1):c.2643GGA[3] (p.Glu888_Glu890del)
NM_004727.3(SLC24A1):c.2998G>A (p.Asp1000Asn)
NM_004727.3(SLC24A1):c.41T>G (p.Leu14Ter)
NM_004744.5(LRAT):c.12del (p.Met5fs) rs2111031951
NM_004744.5(LRAT):c.17dup (p.Glu7fs)
NM_004744.5(LRAT):c.459dup (p.Tyr154fs) rs765063151
NM_004744.5(LRAT):c.502T>A (p.Cys168Ser)
NM_004744.5(LRAT):c.571G>T (p.Asp191Tyr)
NM_004744.5(LRAT):c.80C>T (p.Ser27Leu)
NM_004798.4(KIF3B):c.-122GCC[11]
NM_004798.4(KIF3B):c.-122GCC[13]
NM_004798.4(KIF3B):c.-122GCC[8]
NM_004798.4(KIF3B):c.1160G>T (p.Gly387Val)
NM_004798.4(KIF3B):c.1303G>A (p.Val435Ile)
NM_004798.4(KIF3B):c.329G>A (p.Arg110His)
NM_004798.4(KIF3B):c.657C>G (p.Phe219Leu)
NM_004928.3(CFAP410):c.191T>A (p.Leu64Gln)
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro) rs567435284
NM_004928.3(CFAP410):c.285_289del (p.Glu96fs)
NM_004928.3(CFAP410):c.300_301delinsGAACCCGT (p.Cys100_Gly101delinsTrpAsnProCys)
NM_004928.3(CFAP410):c.317G>A (p.Arg106His)
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs) rs756970705
NM_004928.3(CFAP410):c.562G>A (p.Glu188Lys)
NM_004928.3(CFAP410):c.629G>A (p.Ser210Asn)
NM_004928.3(CFAP410):c.643-146G>A
NM_004928.3(CFAP410):c.80G>T (p.Gly27Val)
NM_005183.4:c.621_1392delinsCTCATTG
NM_005468.3(NAALADL1):c.1045G>A (p.Val349Ile)
NM_005468.3(NAALADL1):c.1087G>A (p.Val363Met)
NM_005468.3(NAALADL1):c.1193A>C (p.Lys398Thr)
NM_005468.3(NAALADL1):c.1198+7C>T
NM_005468.3(NAALADL1):c.134T>C (p.Leu45Pro)
NM_005468.3(NAALADL1):c.1509-1G>A
NM_005468.3(NAALADL1):c.1604A>G (p.Lys535Arg)
NM_005468.3(NAALADL1):c.1663G>T (p.Asp555Tyr)
NM_005468.3(NAALADL1):c.1732C>T (p.Arg578Trp)
NM_005468.3(NAALADL1):c.1943+6C>G
NM_005468.3(NAALADL1):c.1980G>A (p.Met660Ile)
NM_005468.3(NAALADL1):c.2021A>G (p.Glu674Gly)
NM_005468.3(NAALADL1):c.2204_2207delinsCCCCAGGG (p.Arg735fs)
NM_005468.3(NAALADL1):c.292G>A (p.Glu98Lys)
NM_005468.3(NAALADL1):c.592C>T (p.Arg198Cys)
NM_005468.3(NAALADL1):c.736C>T (p.Arg246Ter)
NM_005468.3(NAALADL1):c.77T>A (p.Phe26Tyr)
NM_005468.3(NAALADL1):c.790G>A (p.Val264Ile)
NM_005530.3(IDH3A):c.280G>A (p.Gly94Ser)
NM_005530.3(IDH3A):c.904_916del (p.Ala302fs)
NM_005559.4(LAMA1):c.*11G>A
NM_005559.4(LAMA1):c.1004A>G (p.Asp335Gly)
NM_005559.4(LAMA1):c.1054G>A (p.Ala352Thr)
NM_005559.4(LAMA1):c.1207G>A (p.Gly403Arg)
NM_005559.4(LAMA1):c.2593_2687dup (p.Ala896_Lys897insGlnSerProGlySerAlaTer)
NM_005559.4(LAMA1):c.3272A>G (p.Asp1091Gly) rs2144121334
NM_005559.4(LAMA1):c.679C>T (p.Arg227Cys)
NM_005559.4(LAMA1):c.7024C>A (p.Leu2342Ile)
NM_005559.4(LAMA1):c.7142G>A (p.Arg2381His)
NM_005559.4(LAMA1):c.7282C>A (p.Arg2428Ser)
NM_005559.4(LAMA1):c.98C>G (p.Ala33Gly)
NM_005559.4(LAMA1):c.[2932A>G;2935del]
NM_005654.6(NR2F1):c.1047del (p.Gln349fs)
NM_005802.5(TOPORS):c.1208A>G (p.Glu403Gly)
NM_005802.5(TOPORS):c.1553A>G (p.Gln518Arg)
NM_005802.5(TOPORS):c.1977T>C (p.Thr659=)
NM_005802.5(TOPORS):c.2018_2019delinsTA (p.Arg673Leu) rs797044708
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2558_2559insT (p.His855fs) rs1821069769
NM_005802.5(TOPORS):c.2707C>T (p.Arg903Cys)
NM_005802.5(TOPORS):c.2866G>C (p.Glu956Gln)
NM_005802.5(TOPORS):c.556A>G (p.Arg186Gly)
NM_005802.5(TOPORS):c.572C>T (p.Ser191Phe)
NM_005802.5(TOPORS):c.86_105dup (p.Leu36fs)
NM_005802.5(TOPORS):c.97C>T (p.Arg33Trp)
NM_005869.4(CWC27):c.1002dup (p.Val335fs) rs752159903
NM_005869.4(CWC27):c.155C>A (p.Thr52Asn)
NM_005869.4(CWC27):c.599+11T>A
NM_005869.4(CWC27):c.918GAA[1] (p.Lys308del)
NM_006005.3(WFS1):c.1042G>C (p.Val348Leu)
NM_006005.3(WFS1):c.1078T>C (p.Cys360Arg)
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1297G>C (p.Ala433Pro)
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) rs764932308
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) rs2109125928
NM_006005.3(WFS1):c.1445A>G (p.Lys482Arg)
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) rs150465110
NM_006005.3(WFS1):c.2038G>C (p.Glu680Gln)
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2260C>T (p.Leu754Phe)
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.255A>T (p.Glu85Asp)
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) rs56393026
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006005.3(WFS1):c.439del (p.Arg147fs) rs1560408865
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) rs1064794257
NM_006005.3(WFS1):c.631+4C>T rs377209257
NM_006005.3(WFS1):c.682C>T (p.Arg228Cys)
NM_006005.3(WFS1):c.861_861+8del
NM_006005.3(WFS1):c.923C>G (p.Ser308Cys) rs2109125016
NM_006005.3(WFS1):c.949A>C (p.Thr317Pro)
NM_006005.3(WFS1):c.968A>G (p.His323Arg) rs1057368575
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1144A>G (p.Ile382Val)
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1418G>C (p.Gly473Ala)
NM_006017.3(PROM1):c.1612del (p.Trp538fs)
NM_006017.3(PROM1):c.1628_1629del (p.Ser543fs) rs1295259849
NM_006017.3(PROM1):c.1645_1648del (p.Lys549fs) rs1722855407
NM_006017.3(PROM1):c.1697del (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.1697dup (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter)
NM_006017.3(PROM1):c.1756A>T (p.Asn586Tyr)
NM_006017.3(PROM1):c.1887_1890del (p.Met629fs) rs1459317703
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_006017.3(PROM1):c.2105T>A (p.Leu702His)
NM_006017.3(PROM1):c.2131-100_2354del
NM_006017.3(PROM1):c.2131-99_2356del
NM_006017.3(PROM1):c.2136A>G (p.Arg712=) rs2149081072
NM_006017.3(PROM1):c.220+1G>T
NM_006017.3(PROM1):c.2362_2372del (p.Ile788fs) rs778618612
NM_006017.3(PROM1):c.2374-14dup rs370477050
NM_006017.3(PROM1):c.2378T>A (p.Leu793Ter)
NM_006017.3(PROM1):c.2458C>T (p.Arg820Cys) rs755446696
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_006017.3(PROM1):c.2482T>C (p.Tyr828His)
NM_006017.3(PROM1):c.2484C>A (p.Tyr828Ter)
NM_006017.3(PROM1):c.252T>A (p.Tyr84Ter)
NM_006017.3(PROM1):c.465_470del (p.Arg155_Cys157delinsSer)
NM_006017.3(PROM1):c.509+5G>C
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006017.3(PROM1):c.694+6T>A
NM_006017.3(PROM1):c.785C>T (p.Ala262Val)
NM_006017.3(PROM1):c.864dup (p.Ser289fs)
NM_006204.4(PDE6C):c.1659del (p.Tyr556fs)
NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter) rs781699886
NM_006204.4(PDE6C):c.1756del (p.Tyr586fs)
NM_006204.4(PDE6C):c.1775C>G (p.Ala592Gly)
NM_006204.4(PDE6C):c.2005A>G (p.Ile669Val)
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2144T>A (p.Met715Lys)
NM_006204.4(PDE6C):c.2367+1_2367+5del rs796051871
NM_006204.4(PDE6C):c.2389G>A (p.Glu797Lys)
NM_006204.4(PDE6C):c.2389_2391del (p.Glu797del)
NM_006204.4(PDE6C):c.2489dup (p.Gln833fs)
NM_006204.4(PDE6C):c.2498AAG[1] (p.Glu834del) rs757524417
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_006204.4(PDE6C):c.634-1G>C
NM_006205.3(PDE6H):c.160G>A (p.Glu54Lys)
NM_006214.4(PHYH):c.679-1dup rs767403321
NM_006214.4(PHYH):c.680G>C (p.Gly227Ala)
NM_006269.2(RP1):c.103G>T (p.Ala35Ser)
NM_006269.2(RP1):c.1127G>A (p.Arg376Gln) rs1166678265
NM_006269.2(RP1):c.1397G>A (p.Ser466Asn)
NM_006269.2(RP1):c.172C>G (p.Arg58Gly)
NM_006269.2(RP1):c.1847C>G (p.Ser616Ter)
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2041A>G (p.Ile681Val)
NM_006269.2(RP1):c.2113A>T (p.Lys705Ter) rs1806033844
NM_006269.2(RP1):c.2117del (p.Gly706fs)
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2199_2200del (p.Lys733_Ser734insTer)
NM_006269.2(RP1):c.2243dup (p.Asn748fs)
NM_006269.2(RP1):c.2281A>T (p.Lys761Ter)
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2332A>T (p.Lys778Ter) rs1806041389
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter) rs1365908727
NM_006269.2(RP1):c.2464G>A (p.Val822Ile)
NM_006269.2(RP1):c.2557A>T (p.Lys853Ter)
NM_006269.2(RP1):c.2574del (p.Val859fs)
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2635G>C (p.Ala879Pro)
NM_006269.2(RP1):c.269del (p.His90fs) rs1585557752
NM_006269.2(RP1):c.2831T>C (p.Val944Ala)
NM_006269.2(RP1):c.3008A>G (p.Asp1003Gly) rs1806073071
NM_006269.2(RP1):c.3071G>T (p.Cys1024Phe)
NM_006269.2(RP1):c.3112A>G (p.Ser1038Gly)
NM_006269.2(RP1):c.3133T>C (p.Ser1045Pro)
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006269.2(RP1):c.3266A>G (p.His1089Arg)
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006269.2(RP1):c.3790_3791del (p.Val1264fs)
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_006269.2(RP1):c.3940G>C (p.Ala1314Pro)
NM_006269.2(RP1):c.4083G>T (p.Glu1361Asp)
NM_006269.2(RP1):c.4163T>A (p.Val1388Glu)
NM_006269.2(RP1):c.4218_4221del (p.Glu1407fs) rs1806128576
NM_006269.2(RP1):c.4472A>C (p.Glu1491Ala)
NM_006269.2(RP1):c.467T>C (p.Leu156Pro)
NM_006269.2(RP1):c.4766C>A (p.Ser1589Tyr) rs199756880
NM_006269.2(RP1):c.4788del (p.Asp1597fs)
NM_006269.2(RP1):c.4955G>A (p.Arg1652His)
NM_006269.2(RP1):c.515T>C (p.Leu172Pro)
NM_006269.2(RP1):c.5294G>A (p.Gly1765Asp)
NM_006269.2(RP1):c.5509G>T (p.Val1837Phe)
NM_006269.2(RP1):c.6065del (p.Lys2022fs)
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
NM_006269.2(RP1):c.6327C>A (p.Cys2109Ter) rs1371811798
NM_006269.2(RP1):c.6358A>G (p.Arg2120Gly)
NM_006269.2(RP1):c.712T>A (p.Leu238Met)
NM_006269.2(RP1):c.787+1G>A
NM_006269.2:c.2321_2322insAluYa5
NM_006329.4(FBLN5):c.95A>G (p.Asp32Gly)
NM_006343.3(MERTK):c.1031A>C (p.Tyr344Ser)
NM_006343.3(MERTK):c.1050_1058del (p.Gln350_Ala353delinsHis)
NM_006343.3(MERTK):c.1296+2T>G
NM_006343.3(MERTK):c.1372A>G (p.Thr458Ala)
NM_006343.3(MERTK):c.1684C>T (p.Leu562Phe) rs1338782600
NM_006343.3(MERTK):c.1710_1713del (p.Ser570fs)
NM_006343.3(MERTK):c.1724del (p.Asn575fs) rs1187387547
NM_006343.3(MERTK):c.1787-2A>C
NM_006343.3(MERTK):c.1868T>C (p.Leu623Ser) rs780007963
NM_006343.3(MERTK):c.1921A>G (p.Met641Val)
NM_006343.3(MERTK):c.1960+1G>A
NM_006343.3(MERTK):c.2086C>T (p.Pro696Ser)
NM_006343.3(MERTK):c.2092C>A (p.Gln698Lys)
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) rs387907314
NM_006343.3(MERTK):c.2350-2A>C
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006343.3(MERTK):c.2486+1G>A rs1309140887
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.2531G>A (p.Arg844His)
NM_006343.3(MERTK):c.2926C>T (p.Pro976Ser)
NM_006343.3(MERTK):c.515C>G (p.Ser172Trp) rs143570667
NM_006343.3(MERTK):c.564C>T (p.Pro188=)
NM_006343.3(MERTK):c.773C>T (p.Ala258Val) rs35252762
NM_006343.3(MERTK):c.85G>T (p.Ala29Ser)
NM_006383.4(CIB2):c.42C>A (p.Asp14Glu)
NM_006383.4(CIB2):c.542+8C>A
NM_006431.3(CCT2):c.419C>T (p.Ala140Val)
NM_006431.3(CCT2):c.766G>C (p.Val256Leu)
NM_006431.3(CCT2):c.842G>A (p.Arg281His)
NM_006445.4(PRPF8):c.1223C>T (p.Pro408Leu)
NM_006445.4(PRPF8):c.2181+5dup
NM_006445.4(PRPF8):c.2435C>A (p.Thr812Asn)
NM_006445.4(PRPF8):c.2894T>G (p.Val965Gly)
NM_006445.4(PRPF8):c.3060+6T>C
NM_006445.4(PRPF8):c.3513G>C (p.Glu1171Asp)
NM_006445.4(PRPF8):c.4028C>G (p.Ser1343Cys)
NM_006445.4(PRPF8):c.4167C>T (p.Tyr1389=)
NM_006445.4(PRPF8):c.5377-6_5377-4del
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) rs1911391944
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.6352T>C (p.Ser2118Pro)
NM_006445.4(PRPF8):c.6446_6462delinsACCACCACACCATG (p.Pro2149_His2154delinsHisHisHisThrMet)
NM_006445.4(PRPF8):c.6911T>G (p.Phe2304Cys)
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006445.4(PRPF8):c.6938A>C (p.His2313Pro)
NM_006445.4(PRPF8):c.6942C>A (p.Phe2314Leu)
NM_006445.4(PRPF8):c.6994G>C (p.Asp2332His)
NM_006642.5(SDCCAG8):c.41T>C (p.Leu14Pro)
NM_006642.5(SDCCAG8):c.89A>G (p.His30Arg)
NM_006744.4(RBP4):c.38_56del (p.Leu13fs)
NM_006744.4(RBP4):c.526G>T (p.Glu176Ter) rs2058283703
NM_006796.3(AFG3L2):c.292+1G>A
NM_006796.3(AFG3L2):c.864C>T (p.Leu288=)
NM_006899.5(IDH3B):c.-11C>T
NM_006899.5(IDH3B):c.1000_1010+2delinsG
NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del) rs781157150
NM_006899.5(IDH3B):c.127G>T (p.Val43Leu) rs370105557
NM_006899.5(IDH3B):c.430del (p.His144fs)
NM_006899.5(IDH3B):c.783T>G (p.Pro261=)
NM_006899.5(IDH3B):c.908T>C (p.Phe303Ser)
NM_006899.5(IDH3B):c.998T>C (p.Leu333Pro)
NM_006915.3(RP2):c.102+1G>A
NM_006915.3(RP2):c.137_147del (p.Lys46fs)
NM_006915.3(RP2):c.266G>A (p.Cys89Tyr)
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.367_421dup (p.Ser141Ter)
NM_006915.3(RP2):c.385_386del (p.Leu129fs) rs2147081333
NM_006915.3(RP2):c.392del (p.Cys131fs) rs1064797368
NM_006915.3(RP2):c.409_411del (p.Ile137del) rs1924904597
NM_006915.3(RP2):c.40del (p.Glu14fs) rs1924521431
NM_006915.3(RP2):c.48del (p.Glu18fs)
NM_006915.3(RP2):c.512G>A (p.Trp171Ter)
NM_006915.3(RP2):c.566T>C (p.Leu189Pro) rs1924908706
NM_006915.3(RP2):c.735C>G (p.Tyr245Ter)
NM_006915.3(RP2):c.769-1G>A
NM_006915.3(RP2):c.810_811del (p.Ser271fs)
NM_006915.3(RP2):c.838del (p.Val280fs) rs2147083250
NM_006915.3(RP2):c.847G>T (p.Glu283Ter)
NM_006915.3(RP2):c.884-1G>C
NM_006915.3(RP2):c.891del (p.Ile298fs)
NM_006915.3(RP2):c.93del (p.Gln31fs)
NM_006915.3(RP2):c.968delinsTCC (p.Lys323fs)
NM_006915.3:c.(102+1_103-1)_(883+1_884-1)del
NM_007186.6(CEP250):c.1126T>C (p.Phe376Leu)
NM_007186.6(CEP250):c.118C>T (p.Arg40Trp)
NM_007186.6(CEP250):c.1729A>C (p.Ile577Leu)
NM_007186.6(CEP250):c.2418G>A (p.Gly806=)
NM_007186.6(CEP250):c.2848C>T (p.Arg950Ter) rs1388902455
NM_007186.6(CEP250):c.3526GCCCAG[4] (p.1176AQ[4]) rs561035032
NM_007186.6(CEP250):c.3928del (p.Ser1310fs)
NM_007186.6(CEP250):c.3950A>C (p.Glu1317Ala)
NM_007186.6(CEP250):c.6557G>T (p.Ser2186Ile)
NM_007348.4(ATF6):c.1006G>A (p.Ala336Thr)
NM_007348.4(ATF6):c.1461_1475del (p.His488_Val492del)
NM_007348.4(ATF6):c.1485dup (p.Lys496fs)
NM_007348.4(ATF6):c.1954C>G (p.Pro652Ala)
NM_007348.4(ATF6):c.2002T>C (p.Ser668Pro)
NM_007348.4(ATF6):c.511del (p.Ile171fs) rs1571134523
NM_012106.4(ARL2BP):c.230T>C (p.Ile77Thr)
NM_012193.4(FZD4):c.1136T>G (p.Val379Gly)
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) rs80358295
NM_012193.4(FZD4):c.1334C>G (p.Thr445Arg)
NM_012193.4(FZD4):c.29_38dup (p.Val17fs)
NM_012193.4(FZD4):c.341T>A (p.Ile114Asn)
NM_012193.4(FZD4):c.716T>C (p.Leu239Pro) rs1949297493
NM_012193.4(FZD4):c.869C>T (p.Pro290Leu)
NM_012208.4(HARS2):c.-339C>G
NM_012210.4(TRIM32):c.236A>T (p.Asn79Ile)
NM_012210.4(TRIM32):c.946G>A (p.Ala316Thr)
NM_012338.4(TSPAN12):c.448del (p.Trp150fs)
NM_012338.4(TSPAN12):c.449G>T (p.Trp150Leu) rs2116363278
NM_012338.4(TSPAN12):c.466G>A (p.Glu156Lys)
NM_012338.4(TSPAN12):c.94del (p.Ser32fs)
NM_012338.4:c.(66+1_67-1)_(285+1_286-1)del
NM_012469.4(PRPF6):c.2635G>A (p.Ala879Thr)
NM_012469.4(PRPF6):c.2698C>T (p.Arg900Cys)
NM_012469.4(PRPF6):c.904C>G (p.Arg302Gly)
NM_014003.4(DHX38):c.1202A>C (p.Asn401Thr)
NM_014003.4(DHX38):c.3059A>G (p.Asn1020Ser)
NM_014003.4(DHX38):c.3310A>C (p.Thr1104Pro)
NM_014003.4(DHX38):c.376G>A (p.Glu126Lys)
NM_014003.4(DHX38):c.866G>A (p.Arg289His) rs143671341
NM_014014.5(SNRNP200):c.1200A>T (p.Gly400=)
NM_014014.5(SNRNP200):c.1448G>A (p.Arg483Gln)
NM_014014.5(SNRNP200):c.1660A>C (p.Ser554Arg)
NM_014014.5(SNRNP200):c.1828C>G (p.Arg610Gly)
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe) rs2104352435
NM_014014.5(SNRNP200):c.2037-11T>C
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.2549T>C (p.Leu850Pro) rs2063879043
NM_014014.5(SNRNP200):c.2837A>G (p.Asp946Gly)
NM_014014.5(SNRNP200):c.2858G>A (p.Arg953Gln)
NM_014014.5(SNRNP200):c.3179A>G (p.Asn1060Ser) rs1356922568
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys)
NM_014014.5(SNRNP200):c.3475A>G (p.Asn1159Asp) rs755662756
NM_014014.5(SNRNP200):c.4146G>A (p.Met1382Ile)
NM_014014.5(SNRNP200):c.4996A>T (p.Thr1666Ser) rs2104337284
NM_014014.5(SNRNP200):c.5001G>A (p.Gln1667=)
NM_014014.5(SNRNP200):c.5343G>T (p.Leu1781Phe)
NM_014014.5(SNRNP200):c.5489-10T>C rs2104332120
NM_014014.5(SNRNP200):c.5582G>A (p.Arg1861Gln)
NM_014014.5(SNRNP200):c.5701C>T (p.Arg1901Cys)
NM_014014.5(SNRNP200):c.5869G>A (p.Asp1957Asn)
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)
NM_014014.5(SNRNP200):c.6093-5T>G
NM_014053.4(FLVCR1):c.1259T>C (p.Leu420Ser)
NM_014053.4(FLVCR1):c.1463A>G (p.Tyr488Cys)
NM_014053.4(FLVCR1):c.1519T>G (p.Leu507Val)
NM_014053.4(FLVCR1):c.1634T>C (p.Val545Ala) rs767512883
NM_014053.4(FLVCR1):c.446T>C (p.Leu149Pro)
NM_014053.4(FLVCR1):c.602G>A (p.Trp201Ter)
NM_014055.4(IFT81):c.*12A>G
NM_014055.4(IFT81):c.1803-8C>G
NM_014055.4(IFT81):c.211A>G (p.Ile71Val)
NM_014055.4(IFT81):c.457del (p.Thr153fs)
NM_014055.4(IFT81):c.520-9A>C
NM_014249.4(NR2E3):c.1036C>A (p.Gln346Lys)
NM_014249.4(NR2E3):c.1049A>G (p.Gln350Arg)
NM_014249.4(NR2E3):c.1095C>G (p.Pro365=)
NM_014249.4(NR2E3):c.1118T>C (p.Leu373Pro) rs2140294904
NM_014249.4(NR2E3):c.1120C>T (p.Leu374Phe)
NM_014249.4(NR2E3):c.1127C>A (p.Pro376Gln) rs527428190
NM_014249.4(NR2E3):c.1167_1168del (p.Phe391fs)
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter) rs1595956595
NM_014249.4(NR2E3):c.702G>T (p.Trp234Cys)
NM_014249.4(NR2E3):c.724_725del (p.Ser242fs) rs750740765
NM_014249.4(NR2E3):c.753C>G (p.Ile251Met)
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val) rs377257254
NM_014249.4(NR2E3):c.995-1G>C
NM_014249.4(NR2E3):c.996_997del
NM_014263.4(YME1L1):c.1888C>T (p.Arg630Trp)
NM_014264.5(PLK4):c.-4A>G
NM_014264.5(PLK4):c.1358+1G>T
NM_014264.5(PLK4):c.1525G>A (p.Asp509Asn)
NM_014264.5(PLK4):c.185A>C (p.Lys62Thr)
NM_014264.5(PLK4):c.928AGA[1] (p.Arg311del) rs1378147525
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr)
NM_014336.5(AIPL1):c.1127C>T (p.Pro376Leu)
NM_014336.5(AIPL1):c.276+5G>C
NM_014336.5(AIPL1):c.664T>C (p.Trp222Arg)
NM_014336.5(AIPL1):c.683T>C (p.Met228Thr)
NM_014336.5(AIPL1):c.871_872insA (p.Leu291fs)
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014425.5(INVS):c.1146A>G (p.Gln382=)
NM_014425.5(INVS):c.1838G>A (p.Arg613Gln)
NM_014425.5(INVS):c.2085T>A (p.His695Gln)
NM_014425.5(INVS):c.2368C>T (p.Pro790Ser)
NM_014425.5(INVS):c.273+4A>C
NM_014444.5(TUBGCP4):c.109A>T (p.Ser37Cys) rs758955572
NM_014444.5(TUBGCP4):c.1191A>G (p.Gln397=)
NM_014444.5(TUBGCP4):c.377T>A (p.Leu126Gln)
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr) rs751413638
NM_014714.4(IFT140):c.205T>C (p.Trp69Arg)
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser) rs1343501211
NM_014714.4(IFT140):c.2140C>T (p.Pro714Ser)
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
NM_014714.4(IFT140):c.3106del (p.Ala1036fs)
NM_014714.4(IFT140):c.3805A>G (p.Ile1269Val)
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) rs779007169
NM_014714.4(IFT140):c.3838G>A (p.Asp1280Asn)
NM_014714.4(IFT140):c.3841C>T (p.Leu1281Phe)
NM_014714.4(IFT140):c.3872A>G (p.Gln1291Arg)
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.4235_4244dup (p.Ser1416fs)
NM_014714.4(IFT140):c.4278del (p.Leu1427fs)
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) rs148462329
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser) rs148462329
NM_014714.4(IFT140):c.491+5G>T
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro) rs764851284
NM_014714.4(IFT140):c.766del (p.Leu256fs)
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4:c.(3453+1_3454-1)_(4182+1_4183-1)dup
NM_014855.3(AP5Z1):c.1181C>T (p.Thr394Ile)
NM_014855.3(AP5Z1):c.1378G>A (p.Ala460Thr) rs371881628
NM_014855.3(AP5Z1):c.1498C>T (p.Leu500Phe)
NM_014855.3(AP5Z1):c.1505C>T (p.Ala502Val)
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter) rs1057519342
NM_014855.3(AP5Z1):c.1829C>T (p.Ala610Val)
NM_014855.3(AP5Z1):c.2111C>T (p.Thr704Met)
NM_014855.3(AP5Z1):c.2117C>G (p.Thr706Arg) rs752688603
NM_014855.3(AP5Z1):c.2287G>T (p.Val763Leu)
NM_014855.3(AP5Z1):c.2336_2339dup (p.His780fs)
NM_014855.3(AP5Z1):c.740G>T (p.Arg247Leu)
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) rs554060393
NM_014855.3(AP5Z1):c.890C>G (p.Ala297Gly) rs927793345
NM_014855.3(AP5Z1):c.931+5G>A
NM_014855.3(AP5Z1):c.932-12C>T
NM_014855.3(AP5Z1):c.935C>T (p.Ala312Val)
NM_014855.3(AP5Z1):c.970-2_983del rs1562408256
NM_014855.3(AP5Z1):c.98A>G (p.Gln33Arg)
NM_014874.4(MFN2):c.970+5T>G
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014989.7(RIMS1):c.1888C>T (p.Arg630Ter)
NM_014989.7(RIMS1):c.2333G>A (p.Arg778Gln)
NM_014989.7(RIMS1):c.2626C>A (p.Pro876Thr)
NM_014989.7(RIMS1):c.3959C>A (p.Ser1320Tyr) rs140943787
NM_014989.7(RIMS1):c.4459C>T (p.Arg1487Ter)
NM_014989.7(RIMS1):c.812+10C>T
NM_015041.3(CLUAP1):c.496-9G>A
NM_015047.3(EMC1):c.1396C>T (p.Gln466Ter)
NM_015047.3(EMC1):c.1783G>A (p.Glu595Lys)
NM_015047.3(EMC1):c.1990G>A (p.Glu664Lys) rs2093516350
NM_015047.3(EMC1):c.205C>T (p.Arg69Ter) rs757025272
NM_015047.3(EMC1):c.2576G>A (p.Arg859Gln)
NM_015072.5(TTLL5):c.1114T>C (p.Ser372Pro)
NM_015072.5(TTLL5):c.1258C>T (p.Arg420Ter) rs541400148
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789
NM_015072.5(TTLL5):c.215C>T (p.Thr72Met)
NM_015072.5(TTLL5):c.2885G>T (p.Arg962Leu)
NM_015072.5(TTLL5):c.32A>C (p.Glu11Ala)
NM_015072.5(TTLL5):c.3796G>A (p.Ala1266Thr)
NM_015072.5(TTLL5):c.410A>T (p.Asn137Ile)
NM_015072.5(TTLL5):c.731G>C (p.Gly244Ala)
NM_015072.5(TTLL5):c.842+1G>A rs1887579263
NM_015072.5(TTLL5):c.889A>G (p.Ser297Gly)
NM_015102.5(NPHP4):c.1306_1314dup
NM_015102.5(NPHP4):c.2275C>T (p.Leu759Phe)
NM_015102.5(NPHP4):c.2389G>C (p.Val797Leu)
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp) rs1417370808
NM_015102.5(NPHP4):c.4222A>G (p.Ile1408Val) rs1640827027
NM_015102.5(NPHP4):c.857G>A (p.Arg286His)
NM_015272.5(RPGRIP1L):c.1063C>T (p.Arg355Trp)
NM_015272.5(RPGRIP1L):c.1904A>G (p.Tyr635Cys)
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=) rs750930363
NM_015272.5(RPGRIP1L):c.667G>C (p.Glu223Gln)
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu) rs150146590
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.769G>T (p.Ala257Ser)
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1067_1073+8del rs2073964950
NM_015629.4(PRPF31):c.1074-2A>G rs1314226094
NM_015629.4(PRPF31):c.1074-2A>T rs1314226094
NM_015629.4(PRPF31):c.1087A>T (p.Lys363Ter)
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) rs2146445865
NM_015629.4(PRPF31):c.1141G>A (p.Gly381Arg)
NM_015629.4(PRPF31):c.1146+5G>T
NM_015629.4(PRPF31):c.1146G>C (p.Glu382Asp)
NM_015629.4(PRPF31):c.1146G>T (p.Glu382Asp) rs2146445996
NM_015629.4(PRPF31):c.1200del (p.Lys401fs)
NM_015629.4(PRPF31):c.1210del (p.Ser404fs)
NM_015629.4(PRPF31):c.1225C>T (p.Gln409Ter)
NM_015629.4(PRPF31):c.1231_1232del (p.Gln411fs)
NM_015629.4(PRPF31):c.1248C>T (p.Thr416=)
NM_015629.4(PRPF31):c.1299_1300del (p.Val434fs)
NM_015629.4(PRPF31):c.1374+1G>C
NM_015629.4(PRPF31):c.1480A>G (p.Ser494Gly)
NM_015629.4(PRPF31):c.1499G>C (p.Ter500Ser)
NM_015629.4(PRPF31):c.156_160del (p.Lys53fs)
NM_015629.4(PRPF31):c.180del (p.Phe60fs)
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter) rs2073709795
NM_015629.4(PRPF31):c.238+1G>A
NM_015629.4(PRPF31):c.279dup (p.Val94fs) rs1600335148
NM_015629.4(PRPF31):c.359dup (p.Arg121fs) rs1555792415
NM_015629.4(PRPF31):c.376G>T (p.Glu126Ter)
NM_015629.4(PRPF31):c.421-2A>G rs1600340117
NM_015629.4(PRPF31):c.421-58_434del
NM_015629.4(PRPF31):c.421G>T (p.Glu141Ter)
NM_015629.4(PRPF31):c.455_462del (p.Asn152fs)
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) rs2146418999
NM_015629.4(PRPF31):c.527+1G>T rs1057517982
NM_015629.4(PRPF31):c.528-39_531del rs2146420160
NM_015629.4(PRPF31):c.528-41_528-9del
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.646G>A (p.Ala216Thr)
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs)
NM_015629.4(PRPF31):c.695T>G (p.Met232Arg)
NM_015629.4(PRPF31):c.698-1G>A rs2073871791
NM_015629.4(PRPF31):c.722T>C (p.Leu241Pro)
NM_015629.4(PRPF31):c.793A>G (p.Thr265Ala)
NM_015629.4(PRPF31):c.7_8del (p.Leu3fs)
NM_015629.4(PRPF31):c.831T>A (p.Ser277Arg)
NM_015629.4(PRPF31):c.845_855+1del
NM_015629.4(PRPF31):c.877del (p.Arg293fs)
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.908C>A (p.Ala303Asp)
NM_015629.4:c.(1146+1_1147-1)_(1374+1_1375-1)del
NM_015629.4:c.(238+1_239-1)_(1374+1_1375-1)del
NM_015629.4:c.(238+1_239-1)_(855+1_856-1)del
NM_015629.4:c.(855+1_856-1)_(945+1_946-1)del
NM_015662.3(IFT172):c.113G>A (p.Arg38Gln) rs552861632
NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
NM_015662.3(IFT172):c.2770T>C (p.Ser924Pro)
NM_015662.3(IFT172):c.3248G>T (p.Gly1083Val)
NM_015662.3(IFT172):c.3355C>T (p.His1119Tyr)
NM_015662.3(IFT172):c.3475G>A (p.Glu1159Lys)
NM_015662.3(IFT172):c.3827T>A (p.Val1276Glu)
NM_015662.3(IFT172):c.386G>A (p.Gly129Glu)
NM_015662.3(IFT172):c.4561A>G (p.Ser1521Gly)
NM_015662.3(IFT172):c.470C>T (p.Ser157Phe)
NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu) rs1357445568
NM_015662.3(IFT172):c.5008T>C (p.Tyr1670His)
NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile) rs763335302
NM_015662.3(IFT172):c.757C>T (p.Gln253Ter)
NM_015662.3(IFT172):c.898C>T (p.Arg300Trp)
NM_015909.4(NBAS):c.1850C>T (p.Ala617Val)
NM_015909.4(NBAS):c.197A>G (p.Tyr66Cys)
NM_015909.4(NBAS):c.2341T>G (p.Phe781Val)
NM_015909.4(NBAS):c.2936A>T (p.Asp979Val)
NM_015909.4(NBAS):c.6625A>G (p.Thr2209Ala)
NM_015909.4(NBAS):c.6987G>C (p.Glu2329Asp) rs764206961
NM_015909.4(NBAS):c.7096G>A (p.Ala2366Thr)
NM_015909.4(NBAS):c.809G>A (p.Gly270Asp)
NM_015909.4(NBAS):c.8C>A (p.Ala3Asp) rs202150793
NM_015910.7(WDPCP):c.1373T>C (p.Ile458Thr) rs2105184946
NM_015910.7(WDPCP):c.1A>C (p.Met1Leu)
NM_015910.7(WDPCP):c.208+3A>G
NM_015999.6(ADIPOR1):c.121G>A (p.Val41Ile) rs773404208
NM_015999.6(ADIPOR1):c.258G>A (p.Lys86=)
NM_015999.6(ADIPOR1):c.436G>A (p.Val146Met)
NM_016026.4(RDH11):c.284T>A (p.Leu95Ter)
NM_016247.4(IMPG2):c.1007A>C (p.His336Pro)
NM_016247.4(IMPG2):c.1070A>G (p.Tyr357Cys)
NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter) rs753747821
NM_016247.4(IMPG2):c.1147A>T (p.Ile383Phe)
NM_016247.4(IMPG2):c.1156A>T (p.Arg386Ter)
NM_016247.4(IMPG2):c.1208_1218del (p.Ser403fs)
NM_016247.4(IMPG2):c.1240-12T>A rs768001995
NM_016247.4(IMPG2):c.1240-3C>G
NM_016247.4(IMPG2):c.1240G>A (p.Asp414Asn)
NM_016247.4(IMPG2):c.1241ATA[1] (p.Asn415del) rs1706474724
NM_016247.4(IMPG2):c.1465G>A (p.Val489Ile) rs1206563742
NM_016247.4(IMPG2):c.1565C>G (p.Ser522Ter) rs1409688898
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs) rs1559643320
NM_016247.4(IMPG2):c.1680T>G (p.Tyr560Ter)
NM_016247.4(IMPG2):c.1817_1818del (p.Gly606fs)
NM_016247.4(IMPG2):c.1920G>T (p.Leu640Phe)
NM_016247.4(IMPG2):c.2143del (p.Tyr715fs)
NM_016247.4(IMPG2):c.2267A>G (p.Tyr756Cys) rs560007101
NM_016247.4(IMPG2):c.2321G>A (p.Trp774Ter)
NM_016247.4(IMPG2):c.2328A>G (p.Ile776Met)
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter) rs1706439944
NM_016247.4(IMPG2):c.2444C>G (p.Ser815Cys)
NM_016247.4(IMPG2):c.2516C>T (p.Ser839Leu)
NM_016247.4(IMPG2):c.2524C>A (p.Leu842Met) rs149896250
NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter) rs1706436657
NM_016247.4(IMPG2):c.2762C>T (p.Ser921Phe)
NM_016247.4(IMPG2):c.2887A>T (p.Ser963Cys)
NM_016247.4(IMPG2):c.3023-15T>A
NM_016247.4(IMPG2):c.3023G>A (p.Gly1008Asp)
NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)
NM_016247.4(IMPG2):c.3125A>G (p.Tyr1042Cys) rs990633116
NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe) rs713993049
NM_016247.4(IMPG2):c.3272A>C (p.His1091Pro) rs1317837285
NM_016247.4(IMPG2):c.3320C>A (p.Ala1107Asp)
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016247.4(IMPG2):c.3440C>G (p.Pro1147Arg)
NM_016247.4(IMPG2):c.3482C>T (p.Pro1161Leu)
NM_016247.4(IMPG2):c.3708A>C (p.Gln1236His)
NM_016247.4(IMPG2):c.3714-2A>T
NM_016247.4(IMPG2):c.68dup (p.Asp23fs) rs768660614
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro) rs1706811719
NM_016247.4(IMPG2):c.829-10C>G
NM_016247.4(IMPG2):c.844A>C (p.Thr282Pro)
NM_016247.4(IMPG2):c.865G>A (p.Glu289Lys)
NM_016247.4(IMPG2):c.887+430_908+274del
NM_016247.4(IMPG2):c.957C>A (p.Ser319Arg)
NM_017739.4(POMGNT1):c.*505G>A
NM_017739.4(POMGNT1):c.*533G>A
NM_017739.4(POMGNT1):c.1111-10C>A rs1277266739
NM_017739.4(POMGNT1):c.1906C>A (p.Pro636Thr)
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His) rs527454065
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_017777.4(MKS1):c.1531A>C (p.Ser511Arg)
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu) rs200658872
NM_017777.4(MKS1):c.184A>G (p.Thr62Ala)
NM_017777.4(MKS1):c.473G>A (p.Arg158Gln) rs373471917
NM_018109.4(MTPAP):c.1697C>T (p.Thr566Ile)
NM_018191.4(RCBTB1):c.1045+11G>C
NM_018191.4(RCBTB1):c.1243C>T (p.Gln415Ter)
NM_018191.4(RCBTB1):c.1325-2A>G
NM_018191.4(RCBTB1):c.1445ATG[1] (p.Asp483del) rs771851382
NM_018191.4(RCBTB1):c.653A>G (p.Asn218Ser)
NM_018191.4(RCBTB1):c.715G>A (p.Val239Ile)
NM_018191.4(RCBTB1):c.722G>T (p.Gly241Val)
NM_018418.5(SPATA7):c.1079_1080del (p.Tyr359_Ser360insTer)
NM_018418.5(SPATA7):c.1301A>G (p.Asp434Gly)
NM_018418.5(SPATA7):c.31T>A (p.Ser11Thr)
NM_018418.5(SPATA7):c.487A>T (p.Lys163Ter)
NM_018418.5(SPATA7):c.509A>G (p.Asn170Ser)
NM_018418.5(SPATA7):c.590_593dup (p.Tyr199fs)
NM_018418.5:c.(912+1_913-1)_(1028+1_1029-1)del
NM_018474.6(KIZ):c.251_258del (p.Phe84fs) rs1254494198
NM_018474.6(KIZ):c.605A>G (p.Asn202Ser)
NM_018474.6(KIZ):c.932_934del (p.Val311del) rs1462900742
NM_018942.3(HMX1):c.335G>T (p.Gly112Val) rs777752890
NM_018942.3(HMX1):c.419C>T (p.Thr140Met) rs1031498533
NM_019008.6(MIEF1):c.1013G>A (p.Arg338Gln)
NM_019008.6(MIEF1):c.1300T>G (p.Leu434Val)
NM_019008.6(MIEF1):c.505C>T (p.Arg169Trp)
NM_019008.6(MIEF1):c.664G>A (p.Asp222Asn)
NM_019008.6(MIEF1):c.790G>A (p.Asp264Asn)
NM_019098.5(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.1424T>G (p.Val475Gly)
NM_019098.5(CNGB3):c.1574_1575del (p.Leu524_Phe525insTer)
NM_019098.5(CNGB3):c.1580del
NM_019098.5(CNGB3):c.1763C>G (p.Ser588Trp)
NM_019098.5(CNGB3):c.1820A>G (p.Asn607Ser)
NM_019098.5(CNGB3):c.2065G>C (p.Ala689Pro)
NM_019098.5(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.5(CNGB3):c.2373del (p.Ala792fs)
NM_019098.5(CNGB3):c.418C>T (p.Arg140Cys)
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu) rs1456633980
NM_019098.5(CNGB3):c.659T>C (p.Leu220Pro)
NM_019098.5(CNGB3):c.757T>C (p.Trp253Arg)
NM_019098.5(CNGB3):c.758G>A (p.Trp253Ter)
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.5(CNGB3):c.904-2A>T rs1554612159
NM_019098.5(CNGB3):c.991-3T>G rs773372519
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)
NM_019892.6(INPP5E):c.1522G>C (p.Asp508His)
NM_019892.6(INPP5E):c.28C>G (p.Pro10Ala)
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_019892.6(INPP5E):c.964del (p.Leu322fs)
NM_020184.4(CNNM4):c.1195G>A (p.Glu399Lys)
NM_020184.4(CNNM4):c.1312dup (p.Leu438fs)
NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter) rs1455470131
NM_020184.4(CNNM4):c.451T>C (p.Cys151Arg)
NM_020184.4(CNNM4):c.880C>T (p.His294Tyr)
NM_020184.4(CNNM4):c.947T>G (p.Leu316Arg)
NM_020184.4(CNNM4):c.9_55del (p.Val4fs)
NM_020347.4(LZTFL1):c.733C>T (p.His245Tyr)
NM_020366.4(RPGRIP1):c.1105A>G (p.Lys369Glu)
NM_020366.4(RPGRIP1):c.131dup (p.Glu45fs)
NM_020366.4(RPGRIP1):c.155G>A (p.Arg52Gln) rs374171080
NM_020366.4(RPGRIP1):c.1598A>G (p.Asn533Ser)
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.1672_1674del (p.Leu558del)
NM_020366.4(RPGRIP1):c.1948C>T (p.Pro650Ser) rs1740380459
NM_020366.4(RPGRIP1):c.2021C>A (p.Pro674His)
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.3100-1G>A
NM_020366.4(RPGRIP1):c.340T>C (p.Ser114Pro) rs1192070874
NM_020366.4(RPGRIP1):c.3454C>T (p.Pro1152Ser) rs1388726376
NM_020366.4(RPGRIP1):c.3663A>T (p.Lys1221Asn)
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.3835del (p.Glu1279fs)
NM_020366.4(RPGRIP1):c.391G>A (p.Val131Ile)
NM_020366.4(RPGRIP1):c.486G>A (p.Lys162=)
NM_020366.4:c.(1151+1_1152-1)_(1306+1_1307-1)del
NM_020366.4:c.(3339+1_3340-1)_(3532+1_3533-1)del
NM_020461.4(TUBGCP6):c.182T>C (p.Met61Thr)
NM_020461.4(TUBGCP6):c.2791C>T (p.Pro931Ser)
NM_020461.4(TUBGCP6):c.3280G>C (p.Val1094Leu)
NM_020461.4(TUBGCP6):c.3460_3540del (p.Thr1154_Pro1180del)
NM_020461.4(TUBGCP6):c.466T>C (p.Phe156Leu)
NM_020461.4(TUBGCP6):c.4872C>G (p.Tyr1624Ter)
NM_020461.4(TUBGCP6):c.5154C>G (p.His1718Gln) rs1351314150
NM_020461.4(TUBGCP6):c.844C>A (p.Leu282Met)
NM_020843.4(SCAPER):c.1082G>A (p.Arg361Gln)
NM_020843.4(SCAPER):c.1108A>G (p.Ile370Val)
NM_020843.4(SCAPER):c.1212G>T (p.Arg404Ser)
NM_020843.4(SCAPER):c.1378_1380del (p.Asn460del)
NM_020843.4(SCAPER):c.1456A>G (p.Met486Val)
NM_020843.4(SCAPER):c.1496-9T>C
NM_020843.4(SCAPER):c.1866+8A>G
NM_020843.4(SCAPER):c.2419C>T (p.Leu807Phe)
NM_020843.4(SCAPER):c.2544T>G (p.Ile848Met)
NM_020843.4(SCAPER):c.2613dup (p.Ala872fs)
NM_020843.4(SCAPER):c.3007G>A (p.Glu1003Lys)
NM_020843.4(SCAPER):c.3200A>G (p.Asn1067Ser)
NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)
NM_020843.4(SCAPER):c.3431A>G (p.His1144Arg)
NM_020843.4(SCAPER):c.3443C>T (p.Thr1148Ile)
NM_020843.4(SCAPER):c.3468G>A (p.Arg1156=)
NM_020843.4(SCAPER):c.820A>G (p.Ile274Val)
NM_020843.4(SCAPER):c.839C>T (p.Ala280Val)
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) rs142416793
NM_020949.3(SLC7A14):c.1547T>G (p.Met516Arg) rs1011107567
NM_020949.3(SLC7A14):c.1796T>C (p.Leu599Pro) rs760717830
NM_020949.3(SLC7A14):c.520G>A (p.Val174Met) rs147696235
NM_020949.3(SLC7A14):c.875C>G (p.Ser292Cys)
NM_021620.4(PRDM13):c.-9G>A
NM_021620.4(PRDM13):c.1116GCC[7] (p.Pro378dup) rs112674667
NM_021620.4(PRDM13):c.1116GCC[8] (p.Pro377_Pro378dup) rs112674667
NM_021620.4(PRDM13):c.117C>A (p.Asp39Glu)
NM_021620.4(PRDM13):c.1186C>G (p.Pro396Ala)
NM_021620.4(PRDM13):c.1211A>C (p.His404Pro)
NM_021620.4(PRDM13):c.445C>G (p.Pro149Ala)
NM_021728.4(OTX2):c.683G>A (p.Ser228Asn)
NM_021728.4(OTX2):c.6G>A (p.Met2Ile)
NM_021831.6(AGBL5):c.1021C>G (p.Arg341Gly)
NM_021831.6(AGBL5):c.1265C>A (p.Pro422His) rs140111286
NM_021831.6(AGBL5):c.1498C>T (p.Arg500Cys)
NM_021831.6(AGBL5):c.160T>A (p.Phe54Ile)
NM_021831.6(AGBL5):c.1775G>A (p.Trp592Ter)
NM_021831.6(AGBL5):c.1838A>G (p.Lys613Arg)
NM_021831.6(AGBL5):c.2490-2A>G
NM_021831.6(AGBL5):c.265A>G (p.Lys89Glu)
NM_021831.6(AGBL5):c.296G>T (p.Ser99Ile)
NM_021831.6(AGBL5):c.319del (p.Ala107fs)
NM_021831.6(AGBL5):c.439C>T (p.Arg147Cys) rs144135243
NM_021831.6(AGBL5):c.726G>C (p.Lys242Asn)
NM_021961.6(TEAD1):c.1124A>G (p.Lys375Arg)
NM_021961.6(TEAD1):c.317A>T (p.His106Leu)
NM_021999.5(ITM2B):c.625A>G (p.Ile209Val)
NM_022124.6(CDH23):c.1129G>A (p.Asp377Asn) rs779502033
NM_022124.6(CDH23):c.1290+1G>A
NM_022124.6(CDH23):c.1601T>C (p.Ile534Thr)
NM_022124.6(CDH23):c.1948_1949dup (p.Asn652fs)
NM_022124.6(CDH23):c.2078T>C (p.Leu693Pro)
NM_022124.6(CDH23):c.2743A>G (p.Ile915Val)
NM_022124.6(CDH23):c.3055T>C (p.Cys1019Arg)
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp) rs2132751525
NM_022124.6(CDH23):c.3448T>C (p.Phe1150Leu)
NM_022124.6(CDH23):c.3616C>A (p.Pro1206Thr)
NM_022124.6(CDH23):c.3715+2T>A
NM_022124.6(CDH23):c.4511C>T (p.Thr1504Ile)
NM_022124.6(CDH23):c.4657A>G (p.Thr1553Ala)
NM_022124.6(CDH23):c.5048T>C (p.Phe1683Ser)
NM_022124.6(CDH23):c.5923+2T>C
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022124.6(CDH23):c.7072C>T (p.Arg2358Trp)
NM_022124.6(CDH23):c.7192AAC[1] (p.Asn2399del)
NM_022124.6(CDH23):c.7485G>A (p.Val2495=)
NM_022124.6(CDH23):c.7762G>A (p.Glu2588Lys)
NM_022124.6(CDH23):c.817T>C (p.Tyr273His)
NM_022124.6(CDH23):c.8559A>C (p.Ala2853=)
NM_022124.6(CDH23):c.8560G>A (p.Gly2854Arg)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
NM_022124.6(CDH23):c.960C>A (p.Asn320Lys)
NM_022367.4(SEMA4A):c.1318A>G (p.Thr440Ala)
NM_022367.4(SEMA4A):c.152G>A (p.Arg51Lys)
NM_022367.4(SEMA4A):c.157C>A (p.Leu53Ile)
NM_022367.4(SEMA4A):c.1721C>G (p.Ser574Cys)
NM_022367.4(SEMA4A):c.1811C>G (p.Thr604Ser)
NM_022367.4(SEMA4A):c.1918G>A (p.Val640Met)
NM_022367.4(SEMA4A):c.2058T>C (p.Thr686=)
NM_022367.4(SEMA4A):c.2126C>T (p.Ala709Val)
NM_022367.4(SEMA4A):c.386G>A (p.Arg129His)
NM_022367.4(SEMA4A):c.81GAC[2] (p.Thr30del) rs760427067
NM_022367.4(SEMA4A):c.898C>A (p.Pro300Thr)
NM_022367.4(SEMA4A):c.981G>T (p.Gln327His)
NM_022726.4(ELOVL4):c.53C>T (p.Ala18Val)
NM_022726.4(ELOVL4):c.596A>G (p.Tyr199Cys)
NM_022726.4(ELOVL4):c.818C>A (p.Pro273His)
NM_022787.4(NMNAT1):c.679C>T (p.Arg227Trp)
NM_022821.4(ELOVL1):c.13G>A (p.Val5Met)
NM_024417.5(FDXR):c.1044G>A (p.Met348Ile)
NM_024417.5(FDXR):c.1351C>T (p.Arg451Trp)
NM_024417.5(FDXR):c.893C>T (p.Ser298Leu)
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1135_1136del (p.Gly379fs)
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1501C>T (p.Leu501Phe)
NM_024649.5(BBS1):c.1534C>T (p.Arg512Cys)
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.638A>G (p.Glu213Gly)
NM_024649.5(BBS1):c.641A>T (p.Asp214Val)
NM_024649.5(BBS1):c.661del (p.Leu221fs)
NM_024649.5(BBS1):c.667A>G (p.Thr223Ala)
NM_024649.5(BBS1):c.935A>G (p.His312Arg)
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5:c.(830+1_831-1)_(1110+1_1111-1)del
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.1453dup (p.Thr485fs) rs2136090243
NM_024685.4(BBS10):c.1456dup (p.Tyr486fs)
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.686C>T (p.Pro229Leu) rs1230692815
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_024741.3(ZNF408):c.1174dup (p.Ser392fs) rs776541148
NM_024741.3(ZNF408):c.1357C>T (p.Arg453Trp)
NM_024741.3(ZNF408):c.1378del (p.Gln460fs)
NM_024741.3(ZNF408):c.1424G>A (p.Arg475Gln) rs952174537
NM_024741.3(ZNF408):c.1461G>A (p.Met487Ile)
NM_024741.3(ZNF408):c.1751G>T (p.Cys584Phe)
NM_024741.3(ZNF408):c.1850C>A (p.Thr617Asn) rs547169524
NM_024741.3(ZNF408):c.1996del (p.Glu666fs)
NM_024741.3(ZNF408):c.2157del (p.Thr720fs)
NM_024741.3(ZNF408):c.274G>T (p.Glu92Ter)
NM_024741.3(ZNF408):c.581_592del (p.Val194_Val197del) rs148055528
NM_024741.3(ZNF408):c.955A>G (p.Arg319Gly)
NM_025103.4(IFT74):c.152G>A (p.Arg51His) rs73436007
NM_025103.4(IFT74):c.1790_1791delinsTT (p.Thr597Ile) rs2131720086
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1579A>G (p.Lys527Glu)
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.4(CEP290):c.1909+1G>T
NM_025114.4(CEP290):c.1A>G (p.Met1Val) rs2040644756
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2126_2130dup (p.Arg711fs)
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg)
NM_025114.4(CEP290):c.2191del (p.Gln731fs)
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2368-831_2483+627del
NM_025114.4(CEP290):c.254del (p.Asn85fs)
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)
NM_025114.4(CEP290):c.2958del (p.Val987fs)
NM_025114.4(CEP290):c.3045G>T (p.Glu1015Asp)
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3310-1G>A
NM_025114.4(CEP290):c.3310-1G>C
NM_025114.4(CEP290):c.3310C>A (p.Leu1104Ile)
NM_025114.4(CEP290):c.3880C>A (p.Gln1294Lys)
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val) rs959651787
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs) rs1555208870
NM_025114.4(CEP290):c.4553del (p.Leu1518fs)
NM_025114.4(CEP290):c.4596C>G (p.His1532Gln)
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4973C>A (p.Thr1658Asn)
NM_025114.4(CEP290):c.5477T>G (p.Leu1826Arg)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5674G>T (p.Val1892Leu)
NM_025114.4(CEP290):c.5818A>G (p.Thr1940Ala)
NM_025114.4(CEP290):c.6135+2T>A rs1555200648
NM_025114.4(CEP290):c.6467dup (p.Ile2157fs)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.982C>T (p.Gln328Ter)
NM_025114.4:c.(2367+1_2368-1)_(2817+1_2818-1)dup
NM_025114.4:c.(942+1_943-1)_(1359+1_1360-1)del
NM_025132.4(WDR19):c.1169C>A (p.Pro390His)
NM_025132.4(WDR19):c.1580C>A (p.Thr527Asn)
NM_025132.4(WDR19):c.2405T>A (p.Ile802Lys)
NM_025132.4(WDR19):c.2422-9T>G
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.3215A>G (p.Asn1072Ser)
NM_025132.4(WDR19):c.3983A>G (p.Lys1328Arg)
NM_025132.4(WDR19):c.4010G>A (p.Arg1337Gln) rs745506402
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_031220.4(PITPNM3):c.1048T>G (p.Cys350Gly)
NM_031220.4(PITPNM3):c.1381C>G (p.Pro461Ala)
NM_031220.4(PITPNM3):c.2619+7G>A
NM_031220.4(PITPNM3):c.2675C>T (p.Ser892Leu)
NM_031220.4(PITPNM3):c.79T>G (p.Ser27Ala)
NM_031433.4(MFRP):c.1124+5A>G
NM_031433.4(MFRP):c.1150dup (p.His384fs) rs587776595
NM_031433.4(MFRP):c.179G>A (p.Arg60Gln) rs745791741
NM_031433.4(MFRP):c.28T>C (p.Cys10Arg)
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596
NM_031433.4(MFRP):c.498dup (p.Asn167fs) rs587776596
NM_031433.4(MFRP):c.769C>T (p.Arg257Cys)
NM_031433.4(MFRP):c.919G>A (p.Gly307Ser)
NM_031475.3(ESPN):c.1003C>T (p.Arg335Cys)
NM_031475.3(ESPN):c.1314_1325del (p.Pro441_Pro444del)
NM_031475.3(ESPN):c.1345C>G (p.Pro449Ala)
NM_031475.3(ESPN):c.1464+2T>G
NM_031475.3(ESPN):c.1633G>T (p.Ala545Ser)
NM_031475.3(ESPN):c.2051C>G (p.Pro684Arg)
NM_031475.3(ESPN):c.676-11G>C
NM_031885.5(BBS2):c.1279A>G (p.Ser427Gly)
NM_031885.5(BBS2):c.1739T>A (p.Leu580His)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.202C>T (p.Leu68Phe)
NM_031885.5(BBS2):c.242G>T (p.Gly81Val)
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_032108.4(SEMA6B):c.1037C>A (p.Ala346Asp)
NM_032108.4(SEMA6B):c.1091C>T (p.Pro364Leu)
NM_032108.4(SEMA6B):c.1120C>T (p.Arg374Trp)
NM_032108.4(SEMA6B):c.1135G>A (p.Ala379Thr)
NM_032108.4(SEMA6B):c.1223C>T (p.Ala408Val)
NM_032108.4(SEMA6B):c.1444C>T (p.Arg482Trp)
NM_032108.4(SEMA6B):c.1490G>A (p.Arg497Gln)
NM_032108.4(SEMA6B):c.1559G>A (p.Arg520Gln)
NM_032108.4(SEMA6B):c.1735A>G (p.Thr579Ala)
NM_032108.4(SEMA6B):c.1738+6T>C
NM_032108.4(SEMA6B):c.1894C>G (p.Arg632Gly)
NM_032108.4(SEMA6B):c.1967A>G (p.Glu656Gly)
NM_032108.4(SEMA6B):c.2053A>G (p.Met685Val)
NM_032108.4(SEMA6B):c.2110T>G (p.Ser704Ala)
NM_032108.4(SEMA6B):c.2190G>A (p.Leu730=)
NM_032108.4(SEMA6B):c.2342G>T (p.Arg781Leu)
NM_032108.4(SEMA6B):c.2594C>G (p.Ala865Gly)
NM_032108.4(SEMA6B):c.307-16CT[2]
NM_032119.4(ADGRV1):c.10426+5G>A
NM_032119.4(ADGRV1):c.10675C>T (p.Leu3559Phe)
NM_032119.4(ADGRV1):c.11131A>T (p.Thr3711Ser)
NM_032119.4(ADGRV1):c.11185C>A (p.Pro3729Thr)
NM_032119.4(ADGRV1):c.12700T>C (p.Phe4234Leu)
NM_032119.4(ADGRV1):c.12983A>T (p.Glu4328Val)
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter) rs779948710
NM_032119.4(ADGRV1):c.14965C>T (p.Gln4989Ter)
NM_032119.4(ADGRV1):c.15262G>T (p.Glu5088Ter)
NM_032119.4(ADGRV1):c.18007G>C (p.Asp6003His)
NM_032119.4(ADGRV1):c.1925del (p.Leu642fs)
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs) rs796051866
NM_032119.4(ADGRV1):c.237dup (p.Asp80Ter)
NM_032119.4(ADGRV1):c.2898+1G>T
NM_032119.4(ADGRV1):c.4112T>C (p.Ile1371Thr)
NM_032119.4(ADGRV1):c.4283T>C (p.Leu1428Pro) rs2149468589
NM_032119.4(ADGRV1):c.4348_4349del (p.Lys1450fs)
NM_032119.4(ADGRV1):c.4917G>A (p.Trp1639Ter)
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.6262C>T (p.Gln2088Ter) rs1745312538
NM_032119.4(ADGRV1):c.627_628delinsGC (p.Gly210Arg)
NM_032119.4(ADGRV1):c.7407G>A (p.Trp2469Ter)
NM_032119.4(ADGRV1):c.9209A>T (p.Asp3070Val)
NM_032119.4(ADGRV1):c.9594dup (p.Leu3199fs)
NM_032119.4(ADGRV1):c.9860C>T (p.Ser3287Leu)
NM_032317.3(DNAJC30):c.172dup (p.Ser58fs)
NM_032317.3(DNAJC30):c.269G>A (p.Arg90His)
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.61C>G (p.Pro21Ala)
NM_032730.5(RTN4IP1):c.620+1del
NM_033028.5(BBS4):c.1107-10_1107-7del rs770577174
NM_033028.5(BBS4):c.1138G>A (p.Val380Met)
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
NM_033028.5(BBS4):c.464A>C (p.Gln155Pro)
NM_033028.5:c.(405+1_406-1)_(587+1_588-1)del
NM_033056.4(PCDH15):c.5282_5308del (p.Ala1761_Pro1769del)
NM_033100.4(CDHR1):c.1051C>T (p.Pro351Ser)
NM_033100.4(CDHR1):c.1115C>T (p.Pro372Leu)
NM_033100.4(CDHR1):c.1205C>A (p.Pro402His) rs1842277221
NM_033100.4(CDHR1):c.1354T>G (p.Phe452Val) rs112631930
NM_033100.4(CDHR1):c.1503_1507del (p.Gly502fs) rs1346965647
NM_033100.4(CDHR1):c.1693A>C (p.Thr565Pro)
NM_033100.4(CDHR1):c.1837del (p.His613fs)
NM_033100.4(CDHR1):c.1855G>A (p.Val619Met) rs115388824
NM_033100.4(CDHR1):c.1861G>C (p.Asp621His)
NM_033100.4(CDHR1):c.1978G>A (p.Asp660Asn) rs1085307801
NM_033100.4(CDHR1):c.1979A>T (p.Asp660Val)
NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del) rs760555697
NM_033100.4(CDHR1):c.2175G>A (p.Trp725Ter)
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.296A>G (p.Glu99Gly)
NM_033100.4(CDHR1):c.379G>A (p.Asp127Asn) rs1189565760
NM_033100.4(CDHR1):c.641A>T (p.Asp214Val)
NM_033100.4(CDHR1):c.863-2A>G
NM_033100.4(CDHR1):c.863-2_863-1del
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser)
NM_052844.4(DYNC2I2):c.309_310inv (p.Asp104Asn)
NM_052844.4(DYNC2I2):c.683C>T (p.Thr228Met)
NM_052844.4(DYNC2I2):c.848G>A (p.Arg283His)
NM_130837.3(OPA1):c.1013del (p.Asn338fs)
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+4_1035+5inv
NM_130837.3(OPA1):c.1036-9del
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe) rs863224131
NM_130837.3(OPA1):c.1049G>T (p.Gly350Val)
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1149+1_1149+5del
NM_130837.3(OPA1):c.1150-15_1151del
NM_130837.3(OPA1):c.115A>C (p.Ser39Arg)
NM_130837.3(OPA1):c.1230+1G>A rs80356528
NM_130837.3(OPA1):c.1230+2T>C
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1305+2T>G
NM_130837.3(OPA1):c.1305+5G>C
NM_130837.3(OPA1):c.1305G>A (p.Glu435=)
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.3(OPA1):c.1353_1354insACCA (p.Val452fs)
NM_130837.3(OPA1):c.1355T>G (p.Val452Gly)
NM_130837.3(OPA1):c.1363C>G (p.Pro455Ala)
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1377+5G>A
NM_130837.3(OPA1):c.1383del (p.Thr462fs)
NM_130837.3(OPA1):c.1411del (p.Glu471fs)
NM_130837.3(OPA1):c.1442T>G (p.Met481Arg)
NM_130837.3(OPA1):c.1477G>C (p.Asp493His)
NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val) rs1734162973
NM_130837.3(OPA1):c.1480_1483del
NM_130837.3(OPA1):c.1481G>A (p.Gly494Glu)
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1515dup (p.Val507fs)
NM_130837.3(OPA1):c.1535del (p.Pro512fs)
NM_130837.3(OPA1):c.1541G>A (p.Gly514Glu)
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter) rs1560327427
NM_130837.3(OPA1):c.1567A>G (p.Lys523Glu)
NM_130837.3(OPA1):c.1589dup (p.Asn530fs)
NM_130837.3(OPA1):c.1681+1G>A
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1756A>G (p.Thr586Ala)
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.1808_1810del (p.Val603_Ser604delinsAla)
NM_130837.3(OPA1):c.1834C>T (p.Arg612Ter) rs398124299
NM_130837.3(OPA1):c.1871-3C>G
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.1935G>T (p.Arg645=)
NM_130837.3(OPA1):c.1989_1992del (p.Ser664fs)
NM_130837.3(OPA1):c.2012+1G>C rs863224134
NM_130837.3(OPA1):c.2012+4_2012+7del
NM_130837.3(OPA1):c.2013-6T>G
NM_130837.3(OPA1):c.2039G>A (p.Trp680Ter)
NM_130837.3(OPA1):c.2041del (p.Glu681fs)
NM_130837.3(OPA1):c.2057_2058del (p.His686fs) rs1713427542
NM_130837.3(OPA1):c.2160_2163del (p.Pro721fs)
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter) rs1553784985
NM_130837.3(OPA1):c.240T>A (p.Tyr80Ter)
NM_130837.3(OPA1):c.2439_2440+3dup
NM_130837.3(OPA1):c.2441-3dup
NM_130837.3(OPA1):c.2468G>A (p.Gly823Asp)
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter) rs1553785338
NM_130837.3(OPA1):c.2521-1G>A
NM_130837.3(OPA1):c.2521-8T>G rs1064797303
NM_130837.3(OPA1):c.2631del (p.Glu877fs)
NM_130837.3(OPA1):c.2661+1G>A rs794727392
NM_130837.3(OPA1):c.2672del (p.Thr891fs)
NM_130837.3(OPA1):c.2708_2711del (p.Thr903fs)
NM_130837.3(OPA1):c.2779-2A>C
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2796_2798del (p.Val933del)
NM_130837.3(OPA1):c.2815C>T (p.Gln939Ter) rs2109268057
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2878C>T (p.Arg960Ter)
NM_130837.3(OPA1):c.295_301dup (p.Arg101fs)
NM_130837.3(OPA1):c.2981T>C (p.Leu994Pro)
NM_130837.3(OPA1):c.2983+2T>C
NM_130837.3(OPA1):c.2983+4A>G
NM_130837.3(OPA1):c.2983delA (p.Lys995fs)
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.3011T>G (p.Leu1004Arg)
NM_130837.3(OPA1):c.352-2_556+69del
NM_130837.3(OPA1):c.406_412delinsCCC (p.Val136fs)
NM_130837.3(OPA1):c.611-8_611-3del rs1553872701
NM_130837.3(OPA1):c.634A>G (p.Arg212Gly)
NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)
NM_130837.3(OPA1):c.794C>A (p.Ser265Ter) rs863224127
NM_130837.3(OPA1):c.796_799del (p.Asp266fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.814C>T (p.Gln272Ter)
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter) rs1732086609
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852
NM_130837.3(OPA1):c.91C>T (p.Gln31Ter)
NM_130837.3(OPA1):c.949-1G>A
NM_130837.3(OPA1):c.983A>C (p.Asp328Ala)
NM_130837.3:c.(1754+1_1755-1)_(2012+1_2013-1)del
NM_130837.3:c.(2778+1_2779-1)_(2983+1_2984-1)del
NM_130837.3:c.(610+1_611-1)_(678+1_679-1)del
NM_130837.3:c.(843+1_844-1)_(1149+1_1150-1)dup
NM_130837.3:c.(948+1_949-1)_(1149+1_1150-1)del
NM_133497.4(KCNV2):c.1076G>A (p.Gly359Asp)
NM_133497.4(KCNV2):c.1120C>T (p.Gln374Ter)
NM_133497.4(KCNV2):c.1186G>A (p.Gly396Arg) rs138924201
NM_133497.4(KCNV2):c.1235G>A (p.Gly412Asp)
NM_133497.4(KCNV2):c.1356+3_1356+6del rs748084580
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_133497.4(KCNV2):c.199T>C (p.Trp67Arg) rs543226684
NM_133497.4(KCNV2):c.19_20del (p.Arg7fs) rs1385132304
NM_133497.4(KCNV2):c.308T>C (p.Val103Ala)
NM_133497.4(KCNV2):c.405G>A (p.Gln135=)
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter) rs140256288
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser) rs1819778622
NM_133497.4(KCNV2):c.624C>G (p.Asp208Glu) rs907617598
NM_133497.4(KCNV2):c.727C>T (p.Arg243Trp)
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) rs786205121
NM_133497.4(KCNV2):c.998G>T (p.Ser333Ile)
NM_138393.4(REEP6):c.157G>A (p.Gly53Arg) rs756089270
NM_138393.4(REEP6):c.217G>A (p.Ala73Thr) rs1169079754
NM_138393.4(REEP6):c.244G>A (p.Asp82Asn) rs2084998620
NM_138393.4(REEP6):c.414_415del (p.Val139fs)
NM_144499.3(GNAT1):c.121G>A (p.Gly41Arg)
NM_144499.3(GNAT1):c.211G>T (p.Gly71Cys) rs767935708
NM_144499.3(GNAT1):c.474G>A (p.Leu158=)
NM_144499.3(GNAT1):c.497C>T (p.Thr166Ile)
NM_144499.3(GNAT1):c.514C>G (p.Arg172Gly)
NM_144499.3(GNAT1):c.565G>C (p.Asp189His)
NM_144499.3(GNAT1):c.753C>A (p.Asn251Lys)
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
NM_144596.4(TTC8):c.826_829dup (p.Ala277fs)
NM_144596.4(TTC8):c.910-8G>T
NM_144631.6(ZNF513):c.1013G>A (p.Arg338His)
NM_144631.6(ZNF513):c.340G>C (p.Glu114Gln)
NM_144631.6(ZNF513):c.423dup (p.Pro142fs)
NM_144643.4(SCLT1):c.1046A>G (p.Gln349Arg)
NM_144643.4(SCLT1):c.2066A>T (p.Ter689Leu) rs774832066
NM_145200.5(CABP4):c.234G>A (p.Glu78=)
NM_145200.5(CABP4):c.248C>T (p.Ala83Val)
NM_145200.5(CABP4):c.284A>G (p.Gln95Arg)
NM_145200.5(CABP4):c.367-9C>G
NM_145200.5(CABP4):c.370del (p.Arg124fs) rs1482314855
NM_145200.5(CABP4):c.541+7_541+8delinsGC rs34039523
NM_145200.5(CABP4):c.608C>A (p.Ala203Glu)
NM_145200.5(CABP4):c.619G>C (p.Gly207Arg)
NM_145200.5(CABP4):c.674G>A (p.Arg225Gln) rs200848734
NM_145290.4(ADGRA3):c.1090C>T (p.Pro364Ser)
NM_145290.4(ADGRA3):c.124G>T (p.Gly42Cys)
NM_145290.4(ADGRA3):c.1453G>A (p.Val485Met)
NM_145290.4(ADGRA3):c.1894T>G (p.Ser632Ala)
NM_145290.4(ADGRA3):c.2072G>A (p.Arg691His)
NM_145290.4(ADGRA3):c.2392C>A (p.Leu798Ile)
NM_145290.4(ADGRA3):c.2437G>T (p.Val813Leu)
NM_145290.4(ADGRA3):c.257+16_257+35dup
NM_145290.4(ADGRA3):c.262C>A (p.Leu88Met)
NM_145290.4(ADGRA3):c.3193C>T (p.Arg1065Trp)
NM_145290.4(ADGRA3):c.330-11A>G
NM_145290.4(ADGRA3):c.3587C>T (p.Thr1196Met) rs61729361
NM_145290.4(ADGRA3):c.3907G>T (p.Gly1303Cys) rs147716223
NM_145698.5(ACBD5):c.43TGC[3] (p.Cys18del) rs754724965
NM_152269.5(MTRFR):c.433_457del (p.Ala145fs)
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1381_1384delinsA (p.Leu461_Tyr462delinsAsn)
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)
NM_152419.3:c.(1250+1_1251-1)_(1377+1_1378-1)del
NM_152443.3(RDH12):c.144C>A (p.Asn48Lys)
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.284G>C (p.Arg95Pro)
NM_152443.3(RDH12):c.378G>A (p.Ala126=)
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.391T>C (p.Cys131Arg)
NM_152443.3(RDH12):c.392G>C (p.Cys131Ser)
NM_152443.3(RDH12):c.59C>T (p.Pro20Leu)
NM_152443.3(RDH12):c.68+6T>A
NM_152443.3(RDH12):c.68G>A (p.Arg23Lys)
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1638T>A (p.Cys546Ter)
NM_152618.3(BBS12):c.930dup (p.Asp311Ter)
NM_152778.4:c.(698+1_699-1)_(754+1_755-1)del
NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del) rs766573820
NM_153240.5(NPHP3):c.3627A>C (p.Lys1209Asn) rs1163759024
NM_153240.5(NPHP3):c.519+2T>C
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
NM_153676.4(USH1C):c.1229G>A (p.Arg410His)
NM_153676.4(USH1C):c.1345C>T (p.Leu449Phe)
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2314G>A (p.Val772Met)
NM_153676.4(USH1C):c.2375G>A (p.Arg792Gln)
NM_153676.4(USH1C):c.580-1G>A
NM_153676.4(USH1C):c.825_829dup (p.Val277fs)
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) rs746696111
NM_170784.3(MKKS):c.1474G>C (p.Asp492His) rs142327258
NM_172240.3(POC1B):c.1214C>T (p.Thr405Ile)
NM_172240.3(POC1B):c.2T>A (p.Met1Lys)
NM_172240.3(POC1B):c.317G>A (p.Arg106Gln) rs76216585
NM_172240.3(POC1B):c.383T>A (p.Val128Glu) rs769379747
NM_172240.3(POC1B):c.541A>G (p.Asn181Asp)
NM_172240.3(POC1B):c.879+2T>G
NM_172240.3(POC1B):c.907G>A (p.Glu303Lys) rs776033960
NM_172240.3(POC1B):c.979G>C (p.Asp327His)
NM_172364.5(CACNA2D4):c.2854C>T (p.Gln952Ter)
NM_172364.5(CACNA2D4):c.3227-1C>T
NM_172364.5:c.(1719+1_1720-1)_(2551+1_2552-1)del
NM_173467.5(MCAT):c.458G>A (p.Ser153Asn)
NM_173467.5(MCAT):c.46G>T (p.Ala16Ser)
NM_173467.5(MCAT):c.832G>A (p.Val278Met)
NM_173467.5(MCAT):c.845C>T (p.Thr282Met)
NM_173467.5(MCAT):c.907G>A (p.Ala303Thr)
NM_173467.5(MCAT):c.937C>G (p.His313Asp)
NM_173477.5(USH1G):c.145C>T (p.Arg49Cys) rs769657993
NM_173477.5(USH1G):c.614C>T (p.Thr205Met)
NM_174878.3(CLRN1):c.151_152delinsAT (p.Gly51Met)
NM_174878.3(CLRN1):c.235A>T (p.Arg79Trp)
NM_174878.3(CLRN1):c.401C>G (p.Pro134Arg)
NM_174878.3(CLRN1):c.433+1109C>A
NM_174878.3(CLRN1):c.458T>G (p.Ile153Arg)
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.639C>A (p.Phe213Leu)
NM_176824.3(BBS7):c.1043A>G (p.Glu348Gly)
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.22A>T (p.Met8Leu) rs757370927
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu) rs376587956
NM_177965.4(CFAP418):c.440G>A (p.Trp147Ter)
NM_177965.4(CFAP418):c.474C>G (p.Asn158Lys)
NM_177965.4(CFAP418):c.59A>C (p.Asp20Ala)
NM_177972.3(TUB):c.407G>A (p.Gly136Glu)
NM_178857.6(RP1L1):c.1049C>A (p.Thr350Lys)
NM_178857.6(RP1L1):c.1286C>A (p.Ala429Asp)
NM_178857.6(RP1L1):c.1825G>T (p.Glu609Ter)
NM_178857.6(RP1L1):c.2180T>G (p.Leu727Arg)
NM_178857.6(RP1L1):c.2677C>T (p.Arg893Cys)
NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter) rs1563131180
NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter) rs756996764
NM_178857.6(RP1L1):c.3029G>T (p.Gly1010Val)
NM_178857.6(RP1L1):c.3157G>A (p.Glu1053Lys)
NM_178857.6(RP1L1):c.3189G>C (p.Glu1063Asp)
NM_178857.6(RP1L1):c.3304G>A (p.Glu1102Lys)
NM_178857.6(RP1L1):c.3413A>C (p.Lys1138Thr)
NM_178857.6(RP1L1):c.3461C>T (p.Ser1154Leu)
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.3596C>G (p.Ser1199Cys) rs863225442
NM_178857.6(RP1L1):c.388C>T (p.Arg130Trp)
NM_178857.6(RP1L1):c.4212_4213del (p.Val1405fs)
NM_178857.6(RP1L1):c.4426G>C (p.Gly1476Arg)
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.454C>T (p.Arg152Trp)
NM_178857.6(RP1L1):c.4699C>T (p.Arg1567Cys)
NM_178857.6(RP1L1):c.4816C>T (p.Arg1606Cys)
NM_178857.6(RP1L1):c.5374C>T (p.Gln1792Ter)
NM_178857.6(RP1L1):c.553G>T (p.Ala185Ser)
NM_178857.6(RP1L1):c.5540_5541del (p.Glu1847fs)
NM_178857.6(RP1L1):c.6067G>T (p.Val2023Leu)
NM_178857.6(RP1L1):c.6147G>T (p.Gln2049His)
NM_178857.6(RP1L1):c.6311C>T (p.Pro2104Leu)
NM_178857.6(RP1L1):c.661G>A (p.Gly221Arg)
NM_178857.6(RP1L1):c.6626T>C (p.Leu2209Ser) rs1181387936
NM_178857.6(RP1L1):c.6656A>G (p.Glu2219Gly)
NM_178857.6(RP1L1):c.800C>T (p.Pro267Leu)
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
NM_181714.4:c.(720+1_721-1)_(955+1_956-1)del
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.1291A>G (p.Ile431Val) rs142642881
NM_182916.3(TRNT1):c.263_266del (p.Gln88fs) rs772722561
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.510dup (p.Asn171Ter)
NM_182916.3(TRNT1):c.542_545del (p.Val181fs) rs769317780
NM_182916.3(TRNT1):c.623T>C (p.Ile208Thr)
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.2354C>T (p.Ser785Leu)
NM_198428.3(BBS9):c.263+1G>T rs137962929
NM_198428.3(BBS9):c.425C>A (p.Ser142Ter)
NM_198428.3(BBS9):c.526C>T (p.Pro176Ser)
NM_198428.3(BBS9):c.744A>G (p.Ile248Met)
NM_198428.3:c.(1552+1_1553-1)_(1693+1_1694-1)del
NM_198506.5(LRIT3):c.1015G>T (p.Ala339Ser)
NM_199355.4(ADAMTS18):c.1829A>C (p.Lys610Thr) rs202020248
NM_199355.4(ADAMTS18):c.2480G>T (p.Arg827Leu) rs149031657
NM_199355.4(ADAMTS18):c.363C>A (p.His121Gln)
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1345C>T (p.Gln449Ter)
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201253.3(CRB1):c.1904_1911del (p.Ser635fs)
NM_201253.3(CRB1):c.1916T>C (p.Phe639Ser)
NM_201253.3(CRB1):c.1958T>G (p.Ile653Ser) rs1336674793
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2087G>C (p.Cys696Ser)
NM_201253.3(CRB1):c.2168G>A (p.Gly723Asp)
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2249G>A (p.Gly750Asp)
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2287A>T (p.Ile763Phe)
NM_201253.3(CRB1):c.2296T>C (p.Trp766Arg)
NM_201253.3(CRB1):c.2308G>C (p.Gly770Arg)
NM_201253.3(CRB1):c.2404C>A (p.Pro802Thr)
NM_201253.3(CRB1):c.2480G>T (p.Gly827Val)
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter)
NM_201253.3(CRB1):c.2684C>T (p.Pro895Leu)
NM_201253.3(CRB1):c.2795C>T (p.Pro932Leu)
NM_201253.3(CRB1):c.2812C>T (p.Gln938Ter) rs1664775193
NM_201253.3(CRB1):c.2842+2T>A
NM_201253.3(CRB1):c.2984_2985del (p.Glu995fs)
NM_201253.3(CRB1):c.3008T>C (p.Ile1003Thr)
NM_201253.3(CRB1):c.3016T>A (p.Ser1006Thr)
NM_201253.3(CRB1):c.3019A>T (p.Arg1007Ter)
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg) rs2125500491
NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser) rs62636291
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) rs62636291
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)
NM_201253.3(CRB1):c.3945_3962dup (p.Cys1321Ter)
NM_201253.3(CRB1):c.3961del (p.Cys1321fs)
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup) rs750573216
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu)
NM_201253.3(CRB1):c.4084G>T (p.Ala1362Ser)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.550G>A (p.Asp184Asn)
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
NM_201253.3(CRB1):c.601T>A (p.Cys201Ser)
NM_201253.3(CRB1):c.616G>T (p.Gly206Ter)
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.848+1G>A rs2125328634
NM_201253.3(CRB1):c.988+1G>A
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.1171C>G (p.Gln391Glu)
NM_201548.5(CERKL):c.1332_1333delinsT (p.Lys444fs)
NM_201548.5(CERKL):c.1388C>T (p.Thr463Ile)
NM_201548.5(CERKL):c.1404del (p.Glu468_Val469insTer) rs1238123416
NM_201548.5(CERKL):c.1426A>G (p.Asn476Asp)
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) rs1064797278
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp) rs1201433512
NM_201548.5(CERKL):c.1573A>T (p.Ser525Cys)
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_201548.5(CERKL):c.419T>C (p.Leu140Pro) rs1481841151
NM_201548.5(CERKL):c.613+2T>C
NM_201548.5(CERKL):c.645dup (p.Leu216fs) rs1688653833
NM_201548.5(CERKL):c.677+11T>C
NM_201548.5(CERKL):c.677+586T>C
NM_201548.5(CERKL):c.71A>C (p.Glu24Ala)
NM_203288.2(RP9):c.437G>A (p.Arg146Gln)
NM_203288.2(RP9):c.593A>T (p.Lys198Met)
NM_205861.3(DHDDS):c.229G>A (p.Ala77Thr)
NM_205861.3(DHDDS):c.251A>G (p.Lys84Arg)
NM_205861.3(DHDDS):c.263G>A (p.Ser88Asn)
NM_205861.3(DHDDS):c.440+3_440+6del
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.4(USH2A):c.10013C>G (p.Ser3338Ter)
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.10328T>C (p.Met3443Thr) rs1661811672
NM_206933.4(USH2A):c.10342G>C (p.Glu3448Gln)
NM_206933.4(USH2A):c.10381T>C (p.Tyr3461His)
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr) rs1553261464
NM_206933.4(USH2A):c.10480A>G (p.Thr3494Ala)
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) rs144560419
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp) rs1571678968
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.11007C>A (p.Ser3669Arg)
NM_206933.4(USH2A):c.11066G>A (p.Arg3689Gln)
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter) rs768062696
NM_206933.4(USH2A):c.11241C>G (p.Tyr3747Ter)
NM_206933.4(USH2A):c.11266G>A (p.Gly3756Ser)
NM_206933.4(USH2A):c.11332C>T (p.Pro3778Ser)
NM_206933.4(USH2A):c.11342T>C (p.Ile3781Thr)
NM_206933.4(USH2A):c.1137del (p.Gln379fs)
NM_206933.4(USH2A):c.11487C>G (p.Thr3829=) rs2102727440
NM_206933.4(USH2A):c.11536G>A (p.Ala3846Thr)
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11659T>G (p.Trp3887Gly) rs1660298981
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe) rs1386612395
NM_206933.4(USH2A):c.11711+1G>C
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs) rs1659891151
NM_206933.4(USH2A):c.11863T>C (p.Trp3955Arg)
NM_206933.4(USH2A):c.12005A>G (p.Tyr4002Cys)
NM_206933.4(USH2A):c.12182C>T (p.Thr4061Ile)
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.1224T>G (p.Asp408Glu)
NM_206933.4(USH2A):c.1241A>G (p.Tyr414Cys) rs1571702162
NM_206933.4(USH2A):c.12428C>A (p.Ser4143Ter)
NM_206933.4(USH2A):c.1274A>T (p.Lys425Ile)
NM_206933.4(USH2A):c.12773C>A (p.Thr4258Lys)
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13156A>T (p.Ile4386Phe)
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13344C>G (p.Asp4448Glu)
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13570A>G (p.Lys4524Glu)
NM_206933.4(USH2A):c.13709G>C (p.Arg4570Pro)
NM_206933.4(USH2A):c.13786G>A (p.Val4596Ile)
NM_206933.4(USH2A):c.13812-1G>A rs199782530
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.14049del (p.Lys4683fs)
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14133+1G>T
NM_206933.4(USH2A):c.14134-3166T>G
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) rs1657036615
NM_206933.4(USH2A):c.14264_14266del (p.Ile4755del)
NM_206933.4(USH2A):c.14448A>C (p.Lys4816Asn)
NM_206933.4(USH2A):c.14626del (p.Leu4876fs)
NM_206933.4(USH2A):c.14849_14858dup (p.Asp4953delinsGluLeuGluTer)
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala) rs1553249303
NM_206933.4(USH2A):c.1513A>T (p.Arg505Ter)
NM_206933.4(USH2A):c.1535T>A (p.Ile512Asn)
NM_206933.4(USH2A):c.1551A>T (p.Arg517Ser)
NM_206933.4(USH2A):c.1558T>C (p.Cys520Arg)
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_206933.4(USH2A):c.1672G>A (p.Asp558Asn) rs1553327490
NM_206933.4(USH2A):c.1687C>T (p.Gln563Ter) rs2037017719
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1780C>T (p.Pro594Ser)
NM_206933.4(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_206933.4(USH2A):c.1912T>A (p.Cys638Ser)
NM_206933.4(USH2A):c.2001C>A (p.His667Gln)
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.2072G>A (p.Cys691Tyr)
NM_206933.4(USH2A):c.2194G>C (p.Gly732Arg)
NM_206933.4(USH2A):c.2306A>T (p.Lys769Ile)
NM_206933.4(USH2A):c.2492del (p.Glu831fs)
NM_206933.4(USH2A):c.2701G>C (p.Glu901Gln)
NM_206933.4(USH2A):c.2710_2720dup (p.Leu908fs) rs755218835
NM_206933.4(USH2A):c.2992A>G (p.Arg998Gly) rs794727135
NM_206933.4(USH2A):c.3023G>A (p.Gly1008Glu)
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp) rs150729680
NM_206933.4(USH2A):c.3151A>T (p.Ser1051Cys)
NM_206933.4(USH2A):c.3153C>G (p.Ser1051Arg)
NM_206933.4(USH2A):c.3316+6T>C rs373631038
NM_206933.4(USH2A):c.3551T>A (p.Leu1184Ter)
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.4(USH2A):c.3737dup (p.Ser1247fs) rs2034937352
NM_206933.4(USH2A):c.3812-12T>G
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) rs372993160
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4033_4051del (p.Ala1345fs)
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) rs2102460239
NM_206933.4(USH2A):c.4381C>T (p.Gln1461Ter)
NM_206933.4(USH2A):c.4396+6C>T
NM_206933.4(USH2A):c.4823A>G (p.His1608Arg) rs2032221370
NM_206933.4(USH2A):c.4846C>T (p.Gln1616Ter)
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val) rs2032219588
NM_206933.4(USH2A):c.4871A>T (p.Asp1624Val)
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)
NM_206933.4(USH2A):c.4955C>T (p.Pro1652Leu)
NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val) rs2032145863
NM_206933.4(USH2A):c.5056G>T (p.Ala1686Ser)
NM_206933.4(USH2A):c.5219T>C (p.Ile1740Thr)
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788
NM_206933.4(USH2A):c.5363A>G (p.Asp1788Gly)
NM_206933.4(USH2A):c.5404A>T (p.Lys1802Ter)
NM_206933.4(USH2A):c.5435T>A (p.Ile1812Lys)
NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr)
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.55del (p.Met19fs) rs2039692173
NM_206933.4(USH2A):c.565C>A (p.Arg189Ser)
NM_206933.4(USH2A):c.5776+2T>C rs866978361
NM_206933.4(USH2A):c.5842C>A (p.Arg1948Ser)
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.6082T>G (p.Tyr2028Asp)
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.6484C>T (p.Gln2162Ter)
NM_206933.4(USH2A):c.6640T>A (p.Tyr2214Asn)
NM_206933.4(USH2A):c.6657+2T>C
NM_206933.4(USH2A):c.668del (p.Ile223fs)
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His) rs1421761057
NM_206933.4(USH2A):c.6953C>T (p.Pro2318Leu)
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
NM_206933.4(USH2A):c.7059del (p.Arg2354fs)
NM_206933.4(USH2A):c.7167C>A (p.Ser2389Arg)
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
NM_206933.4(USH2A):c.7364G>C (p.Trp2455Ser)
NM_206933.4(USH2A):c.7428_7429del (p.Asp2477fs)
NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del) rs766071177
NM_206933.4(USH2A):c.7688T>C (p.Ile2563Thr)
NM_206933.4(USH2A):c.775_776del (p.Ser259fs) rs2038566220
NM_206933.4(USH2A):c.7910C>T (p.Pro2637Leu)
NM_206933.4(USH2A):c.792_795del (p.Glu264fs)
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
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+1G>T rs2102658764
NM_206933.4(USH2A):c.8681+1G>T rs876657733
NM_206933.4(USH2A):c.8682-1G>A rs1553271001
NM_206933.4(USH2A):c.8723_8724del (p.Val2908fs) rs2102440742
NM_206933.4(USH2A):c.8785G>A (p.Ala2929Thr)
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter) rs1553270960
NM_206933.4(USH2A):c.9104C>A (p.Ala3035Asp)
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9437T>C (p.Leu3146Pro) rs1307351188
NM_206933.4(USH2A):c.946C>T (p.Gln316Ter)
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del) rs1246009294
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr) rs1662225145
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.9884G>A (p.Cys3295Tyr) rs1662221668
NM_206933.4(USH2A):c.999dup (p.Arg334fs)
NM_206933.4:c.(2809+1_2810-1)_(2993+1_2994-1)del
NM_206933.4:c.(2993+1_2994-1)_(4627+1_4628-1)del
NM_206933.4:c.(4627+1_4628-1)_(4987+1_4988-1)del
NM_206933.4:c.(4758+1_4759-1)_(4987+1_4988-1)del
NM_206933.4:c.(6325+1_6326-1)_(7120+1_7121-1)del
NM_206933.4:c.(6325+1_6326-1)_(7594+1_7595-1)del
NM_206933.4:c.(6485+1_6486-1)_(7300+1_7301-1)del
NM_206933.4:c.(651+1_652-1)_(6163+1_6164-1)dup
NM_206933.4:c.(7300+1_7301-1)_(7451+1_7452-1)del
NM_206933.4:c.(8223+1_8224-1)_(8845+1_8846-1)dup
NM_206933.4:c.(8681+1_8682-1)_(8845+1_8846-1)del
NM_207352.4(CYP4V2):c.1090+1G>C
NM_207352.4(CYP4V2):c.1222G>T (p.Val408Leu)
NM_207352.4(CYP4V2):c.1229G>T (p.Gly410Val) rs566680277
NM_207352.4(CYP4V2):c.143G>C (p.Arg48Pro) rs1735998479
NM_207352.4(CYP4V2):c.1576T>C (p.Ter526Gln)
NM_207352.4(CYP4V2):c.217T>A (p.Phe73Ile)
NM_207352.4(CYP4V2):c.242C>G (p.Thr81Arg) rs2126582057
NM_207352.4(CYP4V2):c.410C>A (p.Thr137Lys)
NM_207352.4(CYP4V2):c.414-1G>T
NM_207352.4(CYP4V2):c.604+9C>T
NM_207352.4(CYP4V2):c.629del (p.Gly210fs)
NM_207352.4(CYP4V2):c.802-8_810del
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.845_846inv (p.Cys282Tyr)
NM_207352.4(CYP4V2):c.881dup (p.Asn294fs)

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