NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)
|
rs17103671
|
0.02649
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)
|
rs121912553
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)
|
rs371526758
|
0.00012
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)
|
rs397514725
|
0.00006
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165
|
0.00006
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr)
|
rs387906794
|
0.00005
|
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)
|
rs140287375
|
0.00005
|
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)
|
rs142968179
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_003322.6(TULP1):c.1495+1G>A
|
rs281865168
|
0.00003
|
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)
|
rs28940314
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)
|
rs137852833
|
0.00002
|
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)
|
rs1290420698
|
0.00001
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg)
|
rs886037840
|
0.00001
|
NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)
|
rs202240410
|
0.00001
|
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)
|
rs786205550
|
0.00001
|
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)
|
rs121909076
|
0.00001
|
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)
|
rs121909077
|
0.00001
|
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val)
|
rs387907293
|
0.00001
|
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)
|
rs748902766
|
0.00001
|
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp)
|
rs387907291
|
0.00001
|
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)
|
rs202126574
|
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_152443.3(RDH12):c.677A>G (p.Tyr226Cys)
|
rs28940313
|
0.00001
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)
|
rs61749755
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.622del (p.Arg208fs)
|
rs61749671
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000350.3(ABCA4):c.1225del (p.Arg409fs)
|
rs387906387
|
|
NM_000554.6(CRX):c.503_504del (p.Glu168fs)
|
rs61748446
|
|
NM_000554.6(CRX):c.520del (p.Ala174fs)
|
rs281865515
|
|
NM_000554.6(CRX):c.650del (p.Gly217fs)
|
rs281865517
|
|
NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)
|
rs121912554
|
|
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp)
|
rs1401531865
|
|
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)
|
rs386834252
|
|
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs)
|
rs386834253
|
|
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter)
|
rs786205148
|
|
NM_001164688.2(RD3):c.136G>T (p.Glu46Ter)
|
rs786205150
|
|
NM_001164688.2(RD3):c.137_138del (p.Glu46fs)
|
rs786205149
|
|
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter)
|
rs762631020
|
|
NM_001164688.2(RD3):c.296+1G>A
|
rs386834260
|
|
NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)
|
rs869320631
|
|
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)
|
rs387906858
|
|
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)
|
rs143607153
|
|
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)
|
rs387906837
|
|
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)
|
rs387906836
|
|
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter)
|
rs387906835
|
|
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)
|
rs121909073
|
|
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)
|
rs121909075
|
|
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)
|
rs121909074
|
|
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)
|
rs1581734819
|
|
NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla)
|
rs2150921548
|
|
NM_003322.6(TULP1):c.718+2T>C
|
rs1581742970
|
|
NM_003322.6(TULP1):c.99+1G>A
|
rs281865166
|
|
NM_004744.5(LRAT):c.217_218del (p.Met73fs)
|
rs1560870755
|
|
NM_004744.5(LRAT):c.400_401del (p.Lys134fs)
|
rs761717462
|
|
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg)
|
rs104893848
|
|
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)
|
rs1554786802
|
|
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His)
|
rs1554786803
|
|
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs)
|
rs62637016
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)
|
rs62637012
|
|
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)
|
rs777346333
|
|
NM_018418.5(SPATA7):c.960dup (p.Pro321fs)
|
rs386834241
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)
|
rs137853124
|
|
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)
|
rs61751270
|
|
NM_020366.4(RPGRIP1):c.3609del (p.Gln1204fs)
|
rs61751271
|
|
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del)
|
rs281865293
|
|
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)
|
rs986437232
|
|
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met)
|
rs387907294
|
|
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)
|
rs1271498710
|
|
NM_022787.4(NMNAT1):c.299+526_*968dup
|
|
|
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe)
|
rs387907292
|
|
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser)
|
rs1405020783
|
|
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu)
|
rs368062092
|
|
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln)
|
rs387907290
|
|
NM_025114.4(CEP290):c.1260_1264del (p.Lys421fs)
|
rs2137919146
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)
|
rs104894473
|
|
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)
|
rs104894474
|
|
NM_152443.3(RDH12):c.451C>A (p.His151Asn)
|
rs104894475
|
|
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro)
|
rs104894472
|
|
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)
|
rs104894470
|
|
NM_152443.3(RDH12):c.658+1G>A
|
rs387906272
|
|
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala)
|
rs104894476
|
|
NM_152443.3(RDH12):c.778del (p.Glu260fs)
|
rs527236099
|
|
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
|
rs386834261
|
|
NM_181714.4(LCA5):c.0_-298+211del
|
|
|
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter)
|
rs137853136
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
SPATA7, 3-BP DEL, 1227CAC
|
|
|