NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met)
|
rs147593839
|
0.00806
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)
|
rs147010346
|
0.00045
|
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His)
|
rs146762538
|
0.00043
|
NM_000539.3(RHO):c.439C>T (p.Arg147Cys)
|
rs200165530
|
0.00040
|
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp)
|
rs142092713
|
0.00009
|
NM_000539.3(RHO):c.173C>T (p.Thr58Met)
|
rs28933394
|
0.00008
|
NM_015404.4(WHRN):c.1808G>T (p.Gly603Val)
|
rs368141295
|
0.00006
|
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)
|
rs199655686
|
0.00004
|
NM_006017.3(PROM1):c.1632G>T (p.Gly544=)
|
rs753308387
|
0.00004
|
NM_006269.2(RP1):c.121T>C (p.Tyr41His)
|
rs746359399
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_000539.3(RHO):c.361G>A (p.Gly121Ser)
|
rs771637224
|
0.00003
|
NM_001379270.1(CNGA1):c.1535T>G (p.Met512Arg)
|
rs761947277
|
0.00003
|
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr)
|
rs878853353
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_006017.3(PROM1):c.694+4A>T
|
rs375952708
|
0.00002
|
NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val)
|
rs138686895
|
0.00002
|
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)
|
rs878853343
|
0.00001
|
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg)
|
rs878853377
|
0.00001
|
NM_001379270.1(CNGA1):c.629A>T (p.Asp210Val)
|
rs775886085
|
0.00001
|
NM_002335.4(LRP5):c.121C>T (p.Arg41Trp)
|
rs745454417
|
0.00001
|
NM_006017.3(PROM1):c.1141+1G>A
|
rs878853401
|
0.00001
|
NM_006017.3(PROM1):c.1579-1G>C
|
rs372513650
|
0.00001
|
NM_006269.2(RP1):c.539T>G (p.Phe180Cys)
|
rs557432569
|
0.00001
|
NM_006445.4(PRPF8):c.4131C>T (p.Ser1377=)
|
rs761899545
|
0.00001
|
NM_022124.6(CDH23):c.2398-1G>T
|
rs751788879
|
0.00001
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
NM_153676.4(USH1C):c.1210+5G>A
|
rs372285784
|
0.00001
|
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)
|
rs749746650
|
0.00001
|
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)
|
rs878853367
|
0.00001
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
NM_000260.4(MYO7A):c.132+5G>A
|
rs397516284
|
|
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)
|
rs869312181
|
|
NM_000329.3(RPE65):c.726-2A>C
|
rs878853372
|
|
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn)
|
rs201223321
|
|
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys)
|
rs878853398
|
|
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)
|
rs142322202
|
|
NM_000539.3(RHO):c.211C>T (p.Pro71Ser)
|
rs1305158106
|
|
NM_000539.3(RHO):c.571T>G (p.Tyr191Asp)
|
rs1578280614
|
|
NM_000539.3(RHO):c.66C>A (p.Ser22Arg)
|
rs749567084
|
|
NM_000539.3(RHO):c.755G>C (p.Arg252Pro)
|
rs765438313
|
|
NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del)
|
rs2084789093
|
|
NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del)
|
rs2084789357
|
|
NM_000539.3(RHO):c.806C>A (p.Ala269Asp)
|
rs2084789658
|
|
NM_000554.6(CRX):c.100+1G>C
|
rs878853384
|
|
NM_001034853.2(RPGR):c.1572+1del
|
rs878853373
|
|
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu)
|
rs878853375
|
|
NM_001256789.3(CACNA1F):c.1579_1599del (p.Leu527_Leu533del)
|
rs2147917984
|
|
NM_001256789.3(CACNA1F):c.4054AAC[2] (p.Asn1354del)
|
rs2065661046
|
|
NM_001297.5(CNGB1):c.2096A>G (p.Asp699Gly)
|
rs878853393
|
|
NM_001297.5(CNGB1):c.2893G>A (p.Gly965Ser)
|
rs559591083
|
|
NM_001298.3(CNGA3):c.1931T>C (p.Phe644Ser)
|
rs878853359
|
|
NM_001354768.3(NRL):c.586_627dup (p.Ala196_Ala209dup)
|
rs878853356
|
|
NM_002335.4(LRP5):c.1034T>A (p.Leu345Gln)
|
rs878853336
|
|
NM_002905.5(RDH5):c.536A>G (p.Lys179Arg)
|
rs781112960
|
|
NM_006017.3(PROM1):c.1141+5G>C
|
rs878853402
|
|
NM_006017.3(PROM1):c.694+1G>A
|
rs878853399
|
|
NM_006204.4(PDE6C):c.1892A>G (p.Glu631Gly)
|
rs878853345
|
|
NM_006204.4(PDE6C):c.1894A>T (p.Arg632Trp)
|
rs878853346
|
|
NM_006343.3(MERTK):c.1866G>C (p.Lys622Asn)
|
rs775460185
|
|
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)
|
rs878853354
|
|
NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu)
|
rs878853388
|
|
NM_006915.3(RP2):c.260_268del (p.Thr87_Cys89del)
|
rs878853380
|
|
NM_012193.4(FZD4):c.961G>A (p.Val321Ile)
|
rs878853344
|
|
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys)
|
rs527236115
|
|
NM_014249.4(NR2E3):c.191G>T (p.Cys64Phe)
|
rs878853395
|
|
NM_015629.4(PRPF31):c.121C>G (p.Leu41Val)
|
rs878853332
|
|
NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn)
|
rs878853330
|
|
NM_015629.4(PRPF31):c.916G>A (p.Asp306Asn)
|
rs878853333
|
|
NM_018418.5(SPATA7):c.1241_1252del (p.Val414_Val417del)
|
rs878853386
|
|
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)
|
rs878853363
|
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445
|
|
NM_152443.3(RDH12):c.383T>G (p.Val128Gly)
|
rs878853340
|
|
NM_152443.3(RDH12):c.848+2T>C
|
rs878853338
|
|
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)
|
rs878853339
|
|
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)
|
rs878853370
|
|
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp)
|
rs878853365
|
|
NM_201253.3(CRB1):c.2843-1G>A
|
rs878853368
|
|
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly)
|
rs766505885
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val)
|
rs878853409
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.4251+1G>A
|
rs878853405
|
|
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr)
|
rs878853403
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6326-1G>A
|
rs878853411
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|