NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys)
|
rs377269054
|
0.00009
|
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)
|
rs118031911
|
0.00008
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)
|
rs527236068
|
0.00004
|
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His)
|
rs375412499
|
0.00004
|
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr)
|
rs121918581
|
0.00003
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_001354768.3(NRL):c.23del (p.Leu8fs)
|
rs527236087
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)
|
rs527236067
|
0.00002
|
NM_001297.5(CNGB1):c.217+5G>C
|
rs527236060
|
0.00002
|
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)
|
rs527236086
|
0.00002
|
NM_000283.4(PDE6B):c.1467+1G>C
|
rs527236089
|
0.00001
|
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn)
|
rs527236088
|
0.00001
|
NM_000539.3(RHO):c.520G>A (p.Gly174Ser)
|
rs527236103
|
0.00001
|
NM_000554.6(CRX):c.897G>C (p.Leu299Phe)
|
rs527236063
|
0.00001
|
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)
|
rs527236066
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001242957.3(MAK):c.496C>T (p.Arg166Cys)
|
rs527236081
|
0.00001
|
NM_001242957.3(MAK):c.553G>A (p.Ala185Thr)
|
rs527236080
|
0.00001
|
NM_001379270.1(CNGA1):c.1621G>A (p.Gly541Ser)
|
rs527236057
|
0.00001
|
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)
|
rs121909076
|
0.00001
|
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)
|
rs527236117
|
0.00001
|
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)
|
rs527236084
|
0.00001
|
NM_006343.3(MERTK):c.225del (p.Gly76fs)
|
rs527236083
|
0.00001
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)
|
rs202126574
|
0.00001
|
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter)
|
rs527236107
|
0.00001
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val)
|
rs527236085
|
|
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)
|
rs527236091
|
|
NM_000283.4(PDE6B):c.993-1G>C
|
rs527236090
|
|
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)
|
rs527236097
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
|
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)
|
rs61755817
|
|
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)
|
rs527236101
|
|
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)
|
rs104893775
|
|
NM_000539.3(RHO):c.44A>G (p.Asn15Ser)
|
rs104893786
|
|
NM_000539.3(RHO):c.562G>A (p.Gly188Arg)
|
rs527236100
|
|
NM_000539.3(RHO):c.979_982del (p.Pro327fs)
|
rs527236102
|
|
NM_000554.6(CRX):c.193G>C (p.Asp65His)
|
rs527236062
|
|
NM_001029883.3(PCARE):c.2126del (p.Gly709fs)
|
rs527236055
|
|
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs)
|
rs527236056
|
|
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs)
|
rs527236109
|
|
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter)
|
rs527236108
|
|
NM_001034853.2(RPGR):c.469+1G>A
|
rs62638646
|
|
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs)
|
rs527236111
|
|
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro)
|
rs527236112
|
|
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)
|
rs527236092
|
|
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter)
|
rs527236077
|
|
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)
|
rs527236072
|
|
NM_001142800.2(EYS):c.4387del (p.Arg1463fs)
|
rs527236075
|
|
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs)
|
rs527236073
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter)
|
rs527236074
|
|
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs)
|
rs527236071
|
|
NM_001142800.2(EYS):c.7048del (p.Cys2350fs)
|
rs527236069
|
|
NM_001142800.2(EYS):c.7694del (p.Asn2565fs)
|
rs527236078
|
|
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp)
|
rs527236064
|
|
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs)
|
rs527236070
|
|
NM_001242957.3(MAK):c.340dup (p.Ala114fs)
|
rs527236082
|
|
NM_001297.5(CNGB1):c.2524dup (p.Thr842fs)
|
rs527236061
|
|
NM_001379270.1(CNGA1):c.179del (p.Gly60fs)
|
rs527236058
|
|
NM_001379270.1(CNGA1):c.977A>G (p.Asp326Gly)
|
rs527236059
|
|
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)
|
rs372989281
|
|
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)
|
rs527236079
|
|
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg)
|
rs527236106
|
|
NM_006269.2(RP1):c.650del (p.Gly217fs)
|
rs527236105
|
|
NM_012469.4(PRPF6):c.550G>C (p.Asp184His)
|
rs527236096
|
|
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys)
|
rs527236115
|
|
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)
|
rs527236113
|
|
NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu)
|
rs527236114
|
|
NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter)
|
rs527236094
|
|
NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter)
|
rs144738703
|
|
NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu)
|
rs527236095
|
|
NM_152443.3(RDH12):c.778del (p.Glu260fs)
|
rs527236099
|
|
NM_206933.2(USH2A):c.8682delG
|
rs527236120
|
|
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly)
|
rs527236119
|
|
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp)
|
rs527236127
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu)
|
rs527236125
|
|
NM_206933.4(USH2A):c.1722_1723insGA (p.Cys575fs)
|
rs527236121
|
|
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)
|
rs527236123
|
|
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter)
|
rs55958016
|
|
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg)
|
rs527236118
|
|