NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00409
|
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_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
|
rs140630401
|
0.00145
|
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_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)
|
rs144498273
|
0.00088
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His)
|
rs137853902
|
0.00071
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
0.00060
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_145290.4(ADGRA3):c.2392C>T (p.Leu798Phe)
|
rs149451001
|
0.00048
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_006017.3(PROM1):c.1911+8G>A
|
rs370302107
|
0.00033
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)
|
rs139119218
|
0.00030
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
NM_020184.4(CNNM4):c.2130+5G>A
|
rs200517269
|
0.00024
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_006269.2(RP1):c.3101A>T (p.His1034Leu)
|
rs148296108
|
0.00016
|
NM_006269.2(RP1):c.5805T>G (p.Phe1935Leu)
|
rs140137224
|
0.00016
|
NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys)
|
rs139637557
|
0.00013
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr)
|
rs540856754
|
0.00010
|
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp)
|
rs1058635
|
0.00009
|
NM_000260.4(MYO7A):c.3503+12G>A
|
rs78509218
|
0.00008
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_001252024.2(TRPM1):c.1414C>T (p.Arg472Trp)
|
rs371853965
|
0.00007
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg)
|
rs763165985
|
0.00006
|
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
0.00006
|
NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys)
|
rs941588545
|
0.00006
|
NM_014249.4(NR2E3):c.481del (p.Thr161fs)
|
rs759339012
|
0.00006
|
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser)
|
rs368098126
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_000539.3(RHO):c.203T>G (p.Leu68Arg)
|
rs137883686
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys)
|
rs201781577
|
0.00004
|
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)
|
rs767414973
|
0.00004
|
NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile)
|
rs757827406
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_000260.4(MYO7A):c.5929C>T (p.Arg1977Trp)
|
rs781586223
|
0.00003
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)
|
rs1326370032
|
0.00003
|
NM_006915.3(RP2):c.49C>T (p.Pro17Ser)
|
rs782103396
|
0.00003
|
NM_022124.6(CDH23):c.429+4G>A
|
rs397517328
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)
|
rs398123299
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000539.3(RHO):c.316G>A (p.Gly106Arg)
|
rs104893773
|
0.00002
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
0.00002
|
NM_001029883.3(PCARE):c.3669-5G>A
|
rs886055920
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
|
rs919157306
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_005802.5(TOPORS):c.2873A>T (p.Glu958Val)
|
rs757527959
|
0.00002
|
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)
|
rs772421550
|
0.00002
|
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)
|
rs184614863
|
0.00002
|
NM_144499.3(GNAT1):c.107G>A (p.Gly36Asp)
|
rs772024349
|
0.00002
|
NM_201548.5(CERKL):c.481+2T>G
|
rs753994107
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)
|
rs753908845
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)
|
rs749657417
|
0.00001
|
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)
|
rs1571170561
|
0.00001
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter)
|
rs1581190641
|
0.00001
|
NM_000440.3(PDE6A):c.1620+1G>A
|
rs781377291
|
0.00001
|
NM_000539.3(RHO):c.50C>T (p.Thr17Met)
|
rs104893769
|
0.00001
|
NM_001017979.3(RAB28):c.55G>A (p.Gly19Arg)
|
rs1312475876
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)
|
rs753314164
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs)
|
rs775887058
|
0.00001
|
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)
|
rs267606676
|
0.00001
|
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)
|
rs1302809734
|
0.00001
|
NM_006269.2(RP1):c.788-2A>T
|
rs1422250479
|
0.00001
|
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)
|
rs527236084
|
0.00001
|
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)
|
rs121912631
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met)
|
rs774079924
|
0.00001
|
NM_152443.3(RDH12):c.451C>G (p.His151Asp)
|
rs104894475
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
0.00001
|
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)
|
rs762388072
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)
|
rs140260219
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs)
|
rs1591277785
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)
|
rs527236091
|
|
NM_000283.4(PDE6B):c.1654del (p.Arg552fs)
|
rs1577296602
|
|
NM_000283.4(PDE6B):c.1833-3C>G
|
rs1241323917
|
|
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)
|
rs869312177
|
|
NM_000283.4(PDE6B):c.207dup (p.Ile70fs)
|
rs750147338
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.517G>A (p.Asp173Asn)
|
rs1582780487
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)
|
rs1582764878
|
|
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter)
|
rs61755811
|
|
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg)
|
rs762326108
|
|
NM_000328.2(RPGR):c.*644del
|
rs1601890980
|
|
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)
|
rs1601892395
|
|
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs)
|
rs1601891967
|
|
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer)
|
rs1601891936
|
|
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)
|
rs1570382663
|
|
NM_000390.4(CHM):c.3G>A (p.Met1Ile)
|
rs1603288875
|
|
NM_000390.4(CHM):c.757C>T (p.Arg253Ter)
|
rs886041178
|
|
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)
|
rs1581180469
|
|
NM_000440.3(PDE6A):c.1407+1G>A
|
rs781616522
|
|
NM_000440.3(PDE6A):c.1A>G (p.Met1Val)
|
rs976670244
|
|
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)
|
rs754012367
|
|
NM_000440.3(PDE6A):c.612del (p.Lys205fs)
|
rs1265680220
|
|
NM_000440.3(PDE6A):c.627+2T>G
|
rs1581211727
|
|
NM_000539.3(RHO):c.1033G>T (p.Val345Leu)
|
rs104893795
|
|
NM_000539.3(RHO):c.265G>C (p.Gly89Arg)
|
rs1578278354
|
|
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)
|
rs104893775
|
|
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)
|
rs104893776
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000539.3(RHO):c.810C>A (p.Ser270Arg)
|
rs768210562
|
|
NM_000539.3(RHO):c.908C>G (p.Pro303Arg)
|
rs1578281100
|
|
NM_000539.3(RHO):c.934C>T (p.Gln312Ter)
|
rs1578281136
|
|
NM_000541.4:c.513_806del
|
|
|
NM_000554.4:c.(?_-1)_(*1_?)dup
|
|
|
NM_000554.6(CRX):c.684G>C (p.Gln228His)
|
rs756105390
|
|
NM_000883.4(IMPDH1):c.402+1G>T
|
rs1562998089
|
|
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val)
|
rs1584728088
|
|
NM_001004334.4(GPR179):c.4835GAG[2] (p.Gly1614del)
|
rs767449258
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001029883.3(PCARE):c.2985dup (p.Pro996fs)
|
rs1572826522
|
|
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter)
|
rs1601943462
|
|
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)
|
rs1601943268
|
|
NM_001034853.2(RPGR):c.1236_1239del (p.Glu414fs)
|
rs1601943227
|
|
NM_001034853.2(RPGR):c.1573-3C>G
|
rs1601926845
|
|
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs)
|
rs1601926125
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.28+1G>C
|
rs62638627
|
|
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys)
|
rs62638648
|
|
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
|
|
|
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
|
|
|
NM_001142800.1(EYS):c.6079_6191del
|
|
|
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
|
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2023+5G>T
|
rs1287889008
|
|
NM_001142800.2(EYS):c.232del (p.Cys78fs)
|
rs1468020897
|
|
NM_001142800.2(EYS):c.350del (p.Asn117fs)
|
rs1582376609
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs)
|
rs1582221424
|
|
NM_001142800.2(EYS):c.7412-1G>C
|
rs1167742176
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
|
rs777482895
|
|
NM_001242957.3(MAK):c.1143dup (p.Lys382Ter)
|
rs1581697849
|
|
NM_001256789.3(CACNA1F):c.818-1G>A
|
rs1602653742
|
|
NM_001297.5(CNGB1):c.1345del (p.Ala449fs)
|
rs1596996962
|
|
NM_001297.5(CNGB1):c.2085T>A (p.Asp695Glu)
|
rs1596976489
|
|
NM_001297.5(CNGB1):c.2166+1G>A
|
rs1596976316
|
|
NM_001297.5(CNGB1):c.2271del (p.Asn758fs)
|
rs1596974169
|
|
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs)
|
rs1365926616
|
|
NM_001378454.1(ALMS1):c.4147dup (p.Gln1383fs)
|
rs1572934951
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001793.6(CDH3):c.3G>A (p.Met1Ile)
|
rs1238109100
|
|
NM_003322.6(TULP1):c.1495+6T>C
|
rs1213236285
|
|
NM_003322.6(TULP1):c.361G>T (p.Glu121Ter)
|
rs1581744084
|
|
NM_004744.5(LRAT):c.264_265dup (p.Gln89fs)
|
rs1578860254
|
|
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)
|
rs766357803
|
|
NM_006017.3(PROM1):c.630+2T>A
|
rs1578097528
|
|
NM_006269.2(RP1):c.2026del (p.Ser676fs)
|
rs1585563087
|
|
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter)
|
rs1250214380
|
|
NM_006269.2(RP1):c.2115del (p.Gly706fs)
|
rs1585563204
|
|
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter)
|
rs1585563965
|
|
NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer)
|
rs1585564175
|
|
NM_006269.2(RP1):c.269del (p.His90fs)
|
rs1585557752
|
|
NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter)
|
rs879399888
|
|
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter)
|
rs1585567204
|
|
NM_006269.2(RP1):c.578G>C (p.Arg193Pro)
|
rs754949406
|
|
NM_006269.2(RP1):c.830_831del (p.Ser277fs)
|
rs1585561400
|
|
NM_006343.2(MERTK):c.62_482dup
|
|
|
NM_006343.2:c.(?_-1)_(1144+1_1145-1)del
|
|
|
NM_006343.3(MERTK):c.757+1G>A
|
rs1573592124
|
|
NM_006343.3(MERTK):c.960+1G>A
|
rs1573607809
|
|
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del)
|
rs1597224402
|
|
NM_006915.3(RP2):c.16_18del (p.Ser6del)
|
rs137852284
|
|
NM_006915.3(RP2):c.352C>G (p.Arg118Gly)
|
rs1556318633
|
|
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)
|
rs104894927
|
|
NM_006915.3(RP2):c.390T>A (p.Cys130Ter)
|
rs1602347792
|
|
NM_006915.3(RP2):c.826del (p.Asp276fs)
|
rs1602349705
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014249.4(NR2E3):c.554del (p.Lys185fs)
|
rs1595956455
|
|
NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter)
|
rs1595956595
|
|
NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup
|
|
|
NM_015629.3:c.(?_-1)_(*1_?)del
|
|
|
NM_015629.3:c.(?_-1)_(238+1_239-1)del
|
|
|
NM_015629.4(PRPF31):c.1190dup (p.His398fs)
|
rs1600360338
|
|
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp)
|
rs367896277
|
|
NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer)
|
rs1600360654
|
|
NM_015629.4(PRPF31):c.421-2A>G
|
rs1600340117
|
|
NM_015629.4(PRPF31):c.666_668del (p.Ile223del)
|
rs1600341902
|
|
NM_015629.4(PRPF31):c.673del (p.Ala225fs)
|
rs1600341931
|
|
NM_015629.4(PRPF31):c.855+1G>T
|
rs1057520752
|
|
NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter)
|
rs1600355373
|
|
NM_015629.4(PRPF31):c.997del (p.Glu333fs)
|
rs1600355502
|
|
NM_022124.6(CDH23):c.5710_5712+3del
|
rs1589420011
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_031885.5(BBS2):c.1290dup (p.His431fs)
|
rs777420525
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs)
|
rs1581312596
|
|
NM_032119.4(ADGRV1):c.4379-1G>A
|
rs1432643009
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)
|
rs368489658
|
|
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)
|
rs104894474
|
|
NM_152443.3(RDH12):c.610A>C (p.Lys204Gln)
|
rs1594866237
|
|
NM_152443.3(RDH12):c.697G>T (p.Val233Phe)
|
rs140257538
|
|
NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg)
|
rs1578491064
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_174878.3(CLRN1):c.434-2A>T
|
rs1576623563
|
|
NM_198428.3(BBS9):c.115A>G (p.Lys39Glu)
|
rs1584179629
|
|
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)
|
rs115352681
|
|
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)
|
rs1571523755
|
|
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter)
|
rs1571525390
|
|
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)
|
rs781705903
|
|
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del)
|
rs1571572235
|
|
NM_201253.3(CRB1):c.508T>C (p.Tyr170His)
|
rs1571848981
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
|
|
|
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
|
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile)
|
rs1571953381
|
|
NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly)
|
rs1558048384
|
|
NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys)
|
rs201238640
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter)
|
rs1571945537
|
|
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)
|
rs1571623023
|
|
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)
|
rs1572060087
|
|
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala)
|
rs750077857
|
|
NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr)
|
rs1571948108
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter)
|
rs1571941589
|
|
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs)
|
rs1571941465
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg)
|
rs1571744237
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly)
|
rs1453306308
|
|
NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe)
|
rs746007103
|
|