NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)
|
rs748531024
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)
|
rs386833744
|
0.00004
|
NM_016247.4(IMPG2):c.3023-6_3030dup
|
rs754995805
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)
|
rs137853291
|
0.00003
|
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)
|
rs770111708
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.1A>G (p.Met1Val)
|
rs781003757
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)
|
rs771054395
|
0.00002
|
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)
|
rs1352458826
|
0.00002
|
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)
|
rs773372123
|
0.00002
|
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)
|
rs201541131
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000350.3(ABCA4):c.5018+5G>A
|
rs1553188588
|
0.00001
|
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)
|
rs144484128
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)
|
rs29001566
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001134831.2(AHI1):c.2569_2570insAG (p.Phe857Ter)
|
rs773278338
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr)
|
rs776788104
|
0.00001
|
NM_201548.5(CERKL):c.613+4_613+5del
|
rs766131721
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)
|
rs762388072
|
0.00001
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NC_000006.11:g.65133931_65156120dup
|
|
|
NC_000015.10:g.89206897_89214258del
|
|
|
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs)
|
rs1360937549
|
|
NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro)
|
rs1553812554
|
|
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)
|
rs869312177
|
|
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)
|
rs61755800
|
|
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs)
|
rs1554268546
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000539.3(RHO):c.158C>G (p.Pro53Arg)
|
rs28933395
|
|
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)
|
rs1553781176
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)
|
rs104893779
|
|
NM_000539.3(RHO):c.83A>G (p.Gln28Arg)
|
rs1553780837
|
|
NM_000554.6(CRX):c.448_449del (p.Ser150fs)
|
rs1555801989
|
|
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)
|
rs1554286384
|
|
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)
|
rs1182983579
|
|
NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter)
|
rs771039023
|
|
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp)
|
rs1555968526
|
|
NM_001034853.2(RPGR):c.1393del (p.Leu465fs)
|
rs1555964122
|
|
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter)
|
rs1555962965
|
|
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs)
|
rs1555961964
|
|
NM_001034853.2(RPGR):c.2250_2251del (p.Lys751fs)
|
rs1555961849
|
|
NM_001034853.2(RPGR):c.779-3C>A
|
rs1555965712
|
|
NM_001034853.2(RPGR):c.914dup (p.Asn305fs)
|
rs1555965653
|
|
NM_001042432.2(CLN3):c.461-279_677+384del
|
rs1555468632
|
|
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)
|
rs748844685
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu)
|
rs1554338016
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)
|
rs1291867456
|
|
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)
|
rs1554183440
|
|
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter)
|
rs1554183432
|
|
NM_001142800.2(EYS):c.5928-3_5928-1del
|
rs1554152094
|
|
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter)
|
rs1554204963
|
|
NM_001142800.2(EYS):c.6545del (p.Asn2182fs)
|
rs1346842287
|
|
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter)
|
rs1554194404
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs)
|
rs1553354861
|
|
NM_001201543.2(FAM161A):c.782del (p.Asp261fs)
|
rs1178184685
|
|
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter)
|
rs878853394
|
|
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter)
|
rs1555488573
|
|
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter)
|
rs1555488069
|
|
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)
|
rs756806434
|
|
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter)
|
rs750620302
|
|
NM_001297.5(CNGB1):c.761+2T>A
|
rs1555493707
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)
|
rs104893967
|
|
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del)
|
rs1555099048
|
|
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)
|
rs140451304
|
|
NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter)
|
rs201644238
|
|
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)
|
rs878853328
|
|
NM_006269.2(RP1):c.2083del (p.Ile695fs)
|
rs1554519538
|
|
NM_006269.2(RP1):c.2206dup (p.Thr736fs)
|
rs1554519554
|
|
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)
|
rs1554519555
|
|
NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer)
|
rs1554519577
|
|
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs)
|
rs1554519635
|
|
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)
|
rs1554519651
|
|
NM_006269.2(RP1):c.5883del (p.Thr1962fs)
|
rs1554520068
|
|
NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly)
|
rs746238212
|
|
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)
|
rs878853354
|
|
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)
|
rs752997229
|
|
NM_006915.3(RP2):c.338C>A (p.Ala113Asp)
|
rs1556318627
|
|
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)
|
rs267607077
|
|
NM_015629.4(PRPF31):c.1129del (p.Arg377fs)
|
rs1555794302
|
|
NM_015629.4(PRPF31):c.1147-153_1196del
|
rs1555794509
|
|
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu)
|
rs1555791188
|
|
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs)
|
rs1555793207
|
|
NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter)
|
rs1553687058
|
|
NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter)
|
rs1553681348
|
|
NM_016247.4(IMPG2):c.2928del (p.Asn976fs)
|
rs770339774
|
|
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs)
|
rs1555302710
|
|
NM_024649.5(BBS1):c.1713del (p.Gly572fs)
|
rs1555050487
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)
|
rs1477733493
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu)
|
rs1553260517
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)
|
rs574162883
|
|
NM_201548.5(CERKL):c.1073+3_1073+6del
|
rs1553513437
|
|
NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu)
|
rs1553257685
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp)
|
rs1553274531
|
|
NM_206933.4(USH2A):c.8223+1G>C
|
rs1553273280
|
|
NM_206933.4(USH2A):c.9259-503_9371+1650del
|
|
|
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)
|
rs1359713084
|
|
NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val)
|
rs1553263639
|
|
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg)
|
rs745413794
|
|
Single allele
|
|
|