NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00014
|
NM_001080442.3(SLC38A8):c.388+5G>A
|
rs760391436
|
0.00014
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)
|
rs116802390
|
0.00007
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
NC_000017.11:g.8002596T>C
|
rs774980016
|
0.00004
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
|
rs116733939
|
0.00004
|
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)
|
rs61749673
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)
|
rs1313593155
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
|
rs188568530
|
0.00002
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)
|
rs61749674
|
0.00002
|
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
|
rs1420672586
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00002
|
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)
|
rs565837539
|
0.00002
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)
|
rs61749676
|
0.00001
|
NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)
|
rs931906767
|
0.00001
|
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)
|
rs765463082
|
0.00001
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)
|
rs61750171
|
0.00001
|
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)
|
rs201587670
|
0.00001
|
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu)
|
rs138922415
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.11+2T>G
|
rs778768116
|
0.00001
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)
|
rs527236079
|
0.00001
|
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter)
|
rs768255532
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter)
|
rs2077134911
|
0.00001
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)
|
rs758239674
|
0.00001
|
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)
|
rs768528387
|
0.00001
|
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)
|
rs1553128102
|
0.00001
|
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs)
|
rs775978677
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)
|
rs62636271
|
0.00001
|
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
|
|
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.1012del (p.Leu338fs)
|
|
|
NM_000180.4(GUCY2D):c.1026+2T>C
|
|
|
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs)
|
rs763890649
|
|
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro)
|
rs1975743813
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000180.4(GUCY2D):c.1391del (p.Gly464fs)
|
rs1567958644
|
|
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)
|
rs1598146589
|
|
NM_000180.4(GUCY2D):c.144del (p.Ala49fs)
|
rs1567956946
|
|
NM_000180.4(GUCY2D):c.1567-1G>C
|
rs2151801050
|
|
NM_000180.4(GUCY2D):c.1749+1G>A
|
rs2151801563
|
|
NM_000180.4(GUCY2D):c.1750-12_1752del
|
|
|
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
|
|
|
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp)
|
rs1975862803
|
|
NM_000180.4(GUCY2D):c.1924T>G (p.Phe642Val)
|
rs1975868246
|
|
NM_000180.4(GUCY2D):c.1937T>C (p.Leu646Pro)
|
rs1975868606
|
|
NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro)
|
rs1975868797
|
|
NM_000180.4(GUCY2D):c.1956+2T>A
|
rs61749758
|
|
NM_000180.4(GUCY2D):c.2006C>G (p.Ser669Ter)
|
rs2151802518
|
|
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val)
|
rs781725943
|
|
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val)
|
rs2151802780
|
|
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu)
|
rs750153057
|
|
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
|
|
|
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs)
|
rs1598149659
|
|
NM_000180.4(GUCY2D):c.2263+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2264-1G>A
|
|
|
NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg)
|
rs1975909279
|
|
NM_000180.4(GUCY2D):c.2393T>G (p.Met798Arg)
|
rs1975911358
|
|
NM_000180.4(GUCY2D):c.2412+2T>C
|
rs2151803131
|
|
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro)
|
rs962715477
|
|
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala)
|
rs2151803362
|
|
NM_000180.4(GUCY2D):c.2576+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2577-2A>G
|
|
|
NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser)
|
rs762981013
|
|
NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly)
|
rs573270795
|
|
NM_000180.4(GUCY2D):c.2769+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2770-34_2925del
|
|
|
NM_000180.4(GUCY2D):c.2783G>C (p.Gly928Ala)
|
rs1975943992
|
|
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro)
|
rs61750179
|
|
NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr)
|
rs1975945845
|
|
NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser)
|
rs1975945845
|
|
NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr)
|
rs1306952187
|
|
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val)
|
rs61750181
|
|
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)
|
rs2151803661
|
|
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu)
|
rs764954235
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
|
|
|
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)
|
rs61750187
|
|
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)
|
|
|
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu)
|
rs61750188
|
|
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)
|
rs868612148
|
|
NM_000180.4(GUCY2D):c.3043+4A>T
|
rs61750189
|
|
NM_000180.4(GUCY2D):c.3043+5G>A
|
rs751822337
|
|
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro)
|
rs1429807175
|
|
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs)
|
rs1555635925
|
|
NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly)
|
rs1975971228
|
|
NM_000180.4(GUCY2D):c.3224+3G>T
|
rs1258995063
|
|
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys)
|
rs63340060
|
|
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup)
|
rs63749076
|
|
NM_000180.4(GUCY2D):c.571dup (p.Gln191fs)
|
|
|
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly)
|
rs1975686657
|
|
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg)
|
rs768206746
|
|
NM_000180.4(GUCY2D):c.826del (p.Leu276fs)
|
rs2151799674
|
|
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn)
|
rs1478566225
|
|
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn)
|
rs1975693830
|
|
NM_000180.4(GUCY2D):c.[1978C>T];[3038G>A]
|
|
|
NM_000180.4(GUCY2D):c.[1991A>C];[2649del]
|
|
|
NM_000180.4(GUCY2D):c.[1991A>C];[2984G>A]
|
|
|
NM_000180.4(GUCY2D):c.[2649del];[3038G>A]
|
|
|
NM_000180.4(GUCY2D):c.[2818C>T];[3038G>A]
|
|
|
NM_000180.4(GUCY2D):c.[2984G>A];[3044-1G>C]
|
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs)
|
rs2100806889
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.354-1G>A
|
rs2100827985
|
|
NM_000329.3(RPE65):c.644-2A>G
|
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
NM_000329.3(RPE65):c.[1067dup];[1543C>T]
|
|
|
NM_000554.6(CRX):c.480_481del (p.Ser161fs)
|
rs1599991538
|
|
NM_000554.6(CRX):c.648del (p.Ser216fs)
|
rs869312175
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)
|
rs1553722736
|
|
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs)
|
rs1286660951
|
|
NM_001122769.3(LCA5):c.550del (p.Ala184fs)
|
rs2127680021
|
|
NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs)
|
rs2103778571
|
|
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs)
|
rs2103781993
|
|
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs)
|
rs2103889898
|
|
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
|
|
|
NM_003322.6(TULP1):c.855dup (p.Val286fs)
|
rs1554125752
|
|
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)
|
rs1578860322
|
|
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
|
|
|
NM_006915.3(RP2):c.102G>A (p.Lys34=)
|
rs1556313552
|
|
NM_014336.4:c.(?_-1)_(276+1_277-1)del
|
|
|
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)
|
rs1208703297
|
|
NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)
|
|
|
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)
|
rs777069665
|
|
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
|
|
|
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
|
|
|
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
|
|
|
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)
|
rs200244203
|
|
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
|
|
|
NM_018418.5(SPATA7):c.[388C>T];[657del]
|
|
|
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)
|
rs776880045
|
|
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
|
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)
|
rs751521888
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)
|
rs1555303320
|
|
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
|
|
|
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)
|
rs747653875
|
|
NM_025114.4(CEP290):c.1523-1G>T
|
rs1192112844
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5709+1G>A
|
rs759850328
|
|
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)
|
rs1592726020
|
|
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
|
|
|
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]
|
|
|
NM_152443.3(RDH12):c.188-1G>A
|
rs2140142183
|
|
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)
|
rs368489658
|
|
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)
|
rs2140145502
|
|
NM_152443.3(RDH12):c.667G>T (p.Val223Phe)
|
rs370015375
|
|
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)
|
rs1239043055
|
|
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)
|
rs2038317129
|
|
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)
|
rs369775002
|
|
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
|
rs1571524102
|
|
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
|
rs1266363944
|
|
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)
|
rs1571525145
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
NM_201253.3(CRB1):c.2220dup (p.Met741fs)
|
rs1553261468
|
|
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)
|
rs1085307972
|
|
NM_201253.3(CRB1):c.2843-1G>T
|
rs878853368
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
|
rs1571848744
|
|
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)
|
rs1571848855
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.71-2A>G
|
rs1383691293
|
|