NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)
|
rs771336246
|
0.00011
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)
|
rs61749673
|
0.00003
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr)
|
rs761554853
|
0.00003
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)
|
rs61749674
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)
|
rs372066126
|
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.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.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)
|
rs796052338
|
0.00001
|
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)
|
rs1464167194
|
0.00001
|
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)
|
rs748972748
|
0.00001
|
NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys)
|
rs751036771
|
0.00001
|
NM_004744.5(LRAT):c.149T>G (p.Val50Gly)
|
rs1384466058
|
0.00001
|
NM_004744.5(LRAT):c.299G>A (p.Gly100Asp)
|
rs1396648864
|
0.00001
|
NM_007348.4(ATF6):c.950G>A (p.Arg317Gln)
|
rs771933147
|
0.00001
|
NM_022787.4(NMNAT1):c.-72G>A
|
rs1475372376
|
0.00001
|
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro)
|
rs1570715470
|
0.00001
|
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met)
|
rs757724544
|
0.00001
|
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)
|
rs748902766
|
0.00001
|
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys)
|
rs748913297
|
0.00001
|
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)
|
rs1163040913
|
0.00001
|
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)
|
rs745871149
|
0.00001
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro)
|
rs1975743813
|
|
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.1943T>C (p.Leu648Pro)
|
rs1975868797
|
|
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu)
|
rs750153057
|
|
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.2531T>C (p.Leu844Pro)
|
rs962715477
|
|
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.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.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu)
|
rs764954235
|
|
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)
|
rs61750187
|
|
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.3056A>C (p.His1019Pro)
|
rs1429807175
|
|
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.725T>G (p.Val242Gly)
|
rs1975686657
|
|
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg)
|
rs768206746
|
|
NM_000310.4(PPT1):c.733G>A (p.Gly245Arg)
|
rs1259755308
|
|
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
|
rs34627040
|
|
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)
|
rs62637007
|
|
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
|
rs1557595745
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu)
|
rs1645945582
|
|
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)
|
rs1645945643
|
|
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)
|
rs61752873
|
|
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
|
rs1260914084
|
|
NM_000329.3(RPE65):c.407T>G (p.Val136Gly)
|
rs1645928251
|
|
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)
|
rs61752882
|
|
NM_000329.3(RPE65):c.544C>A (p.His182Asn)
|
rs61752884
|
|
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
|
rs1189903735
|
|
NM_000329.3(RPE65):c.770T>G (p.Val257Gly)
|
rs1645883131
|
|
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)
|
rs1645880293
|
|
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)
|
rs1645880232
|
|
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)
|
rs61752908
|
|
NM_001017979.3(RAB28):c.328GTG[1] (p.Val111del)
|
|
|
NM_001122769.3(LCA5):c.1545dup (p.Glu516fs)
|
rs1769703329
|
|
NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly)
|
rs1766318937
|
|
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)
|
rs2065788651
|
|
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)
|
rs2065880189
|
|
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)
|
rs2065717075
|
|
NM_001256789.3(CACNA1F):c.818-820del
|
rs2065854138
|
|
NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala)
|
rs1692916541
|
|
NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met)
|
rs375928335
|
|
NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile)
|
rs1699223440
|
|
NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys)
|
rs387906835
|
|
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)
|
rs146311742
|
|
NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu)
|
rs1768748235
|
|
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg)
|
rs1732848653
|
|
NM_004744.5(LRAT):c.487C>T (p.His163Tyr)
|
rs1010347467
|
|
NM_007348.4(ATF6):c.854A>G (p.Lys285Arg)
|
rs1685168329
|
|
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro)
|
rs751881283
|
|
NM_018116.4(MSTO1):c.65C>A (p.Ala22Glu)
|
|
|
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu)
|
rs61751268
|
|
NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg)
|
rs1885763952
|
|
NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg)
|
rs780733881
|
|
NM_022787.4(NMNAT1):c.-57+10C>T
|
rs1640875786
|
|
NM_022787.4(NMNAT1):c.-57+4A>G
|
rs957312118
|
|
NM_022787.4(NMNAT1):c.-57G>T
|
rs1640875002
|
|
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)
|
rs1641789657
|
|
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)
|
rs1641791811
|
|
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)
|
rs1641792104
|
|
NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro)
|
rs1641966303
|
|
NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile)
|
rs1405020783
|
|
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly)
|
rs1641967500
|
|
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser)
|
rs771954272
|
|
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn)
|
rs1641971124
|
|
NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe)
|
rs1641973290
|
|
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)
|
rs1208495291
|
|
NM_152443.3(RDH12):c.238G>C (p.Ala80Pro)
|
rs1032626668
|
|
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)
|
rs1239043055
|
|
NM_152443.3(RDH12):c.805G>C (p.Ala269Pro)
|
rs767385752
|
|
NM_152443.3(RDH12):c.932T>C (p.Leu311Pro)
|
rs769546135
|
|
NM_181714.4(LCA5):c.1569_1582del (p.His523fs)
|
|
|
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr)
|
rs1664322968
|
|
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)
|
rs62645755
|
|
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe)
|
rs1664649015
|
|
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
|
rs62636267
|
|
NM_201253.3(CRB1):c.2234C>G (p.Thr745Arg)
|
rs28939720
|
|
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro)
|
rs1664667136
|
|
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala)
|
rs757137398
|
|
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg)
|
rs1664680011
|
|
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp)
|
rs1664683759
|
|
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)
|
rs759662695
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)
|
rs62636274
|
|
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile)
|
rs62636274
|
|
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu)
|
rs1665071224
|
|
NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val)
|
rs1665084413
|
|
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)
|
rs62636276
|
|
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
|
|
|
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr)
|
rs1665280076
|
|
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser)
|
rs62635649
|
|
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC
|
rs1665488161
|
|
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr)
|
rs1665489039
|
|
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)
|
rs1667260204
|
|
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp)
|
rs1667260968
|
|
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr)
|
rs1659844562
|
|