NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)
|
rs527236068
|
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_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)
|
rs527236067
|
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_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)
|
rs527236066
|
0.00001
|
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)
|
rs121909076
|
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_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
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.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_000554.6(CRX):c.193G>C (p.Asp65His)
|
rs527236062
|
|
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)
|
rs527236092
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp)
|
rs527236064
|
|
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)
|
rs372989281
|
|
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)
|
rs527236113
|
|
NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu)
|
rs527236114
|
|
NM_152443.3(RDH12):c.778del (p.Glu260fs)
|
rs527236099
|
|
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly)
|
rs527236119
|
|
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg)
|
rs527236118
|
|