NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_201548.5(CERKL):c.193G>T (p.Glu65Ter)
|
rs201186440
|
0.00008
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter)
|
rs876657718
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter)
|
rs757470958
|
0.00001
|
NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter)
|
rs878853357
|
0.00001
|
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)
|
rs577932201
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_201548.5(CERKL):c.967_968del (p.Met323fs)
|
rs750151209
|
0.00001
|
NM_000180.4(GUCY2D):c.3175A>T (p.Arg1059Ter)
|
rs878853342
|
|
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)
|
rs878853378
|
|
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter)
|
rs878853376
|
|
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter)
|
rs878853396
|
|
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)
|
rs869312184
|
|
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs)
|
rs878853397
|
|
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
|
|
|
NM_000554.6(CRX):c.605del (p.Cys202fs)
|
rs878853383
|
|
NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del
|
|
|
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter)
|
rs878853374
|
|
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs)
|
rs878853382
|
|
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
|
|
|
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
|
|
|
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
|
rs878853350
|
|
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)
|
rs869312188
|
|
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter)
|
rs761440783
|
|
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)
|
rs760430056
|
|
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter)
|
rs878853394
|
|
NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del
|
|
|
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser)
|
rs782469310
|
|
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys)
|
rs782215106
|
|
NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del
|
|
|
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter)
|
rs878853351
|
|
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter)
|
rs869312183
|
|
NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del
|
|
|
NM_006017.3(PROM1):c.1697del (p.Asn566fs)
|
rs762078182
|
|
NM_006017.3(PROM1):c.2309del (p.Pro770fs)
|
rs878853400
|
|
NM_006269.2(RP1):c.1462del (p.Glu488fs)
|
rs878853327
|
|
NM_006269.2(RP1):c.1598_1601del (p.Arg533fs)
|
rs878853329
|
|
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)
|
rs878853328
|
|
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)
|
rs878853326
|
|
NM_006269.2(RP1):c.742C>T (p.Gln248Ter)
|
rs769156393
|
|
NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del
|
|
|
NM_006343.3(MERTK):c.933_935delinsTT (p.Pro313fs)
|
rs878853355
|
|
NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs)
|
rs878853387
|
|
NM_006915.3(RP2):c.507del (p.Asn169fs)
|
rs878853381
|
|
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)
|
rs868538598
|
|
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)
|
rs869312187
|
|
NM_015629.4(PRPF31):c.400del (p.Asp134fs)
|
rs878853331
|
|
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter)
|
rs878853335
|
|
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter)
|
rs878853334
|
|
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer)
|
rs878853358
|
|
NM_016247.4(IMPG2):c.68dup (p.Asp23fs)
|
rs768660614
|
|
NM_017890.4(VPS13B):c.(5983+1_5984-1)_(7125+1_7126-1)dup
|
|
|
NM_017890.4(VPS13B):c.(?_-1)_(937+1_938-1)del
|
|
|
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs)
|
rs878853385
|
|
NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del
|
|
|
NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del
|
|
|
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)
|
rs878853392
|
|
NM_020366.4(RPGRIP1):c.1445T>A (p.Leu482Ter)
|
rs878853391
|
|
NM_020366.4(RPGRIP1):c.2007del (p.Val670fs)
|
rs878853390
|
|
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs)
|
rs878853389
|
|
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
|
rs878853337
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter)
|
rs878853361
|
|
NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs)
|
rs878853348
|
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225
|
|
NM_033100.4(CDHR1):c.270dup (p.Thr91fs)
|
rs878853347
|
|
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
|
|
|
NM_152443.3(RDH12):c.648_658+20del
|
rs878853341
|
|
NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter)
|
rs878853379
|
|
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
|
rs878853352
|
|
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)
|
rs878853364
|
|
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)
|
rs878853371
|
|
NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter)
|
rs878853369
|
|
NM_201253.3(CRB1):c.807dup (p.Pro270fs)
|
rs878853366
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter)
|
rs746837034
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.2661C>G (p.Tyr887Ter)
|
rs878853408
|
|
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter)
|
rs758705873
|
|
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter)
|
rs869312186
|
|
NM_206933.4(USH2A):c.6470del (p.Arg2157fs)
|
rs878853414
|
|