NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys)
|
rs61733363
|
0.00596
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)
|
rs202210819
|
0.00032
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)
|
rs149862950
|
0.00018
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg)
|
rs200963831
|
0.00011
|
NM_001297.5(CNGB1):c.413-1G>A
|
rs189234741
|
0.00010
|
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)
|
rs759781200
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)
|
rs373448145
|
0.00006
|
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)
|
rs199636364
|
0.00006
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)
|
rs146591309
|
0.00004
|
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)
|
rs541717028
|
0.00004
|
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)
|
rs201893545
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys)
|
rs777682016
|
0.00004
|
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)
|
rs759011231
|
0.00003
|
NM_000539.3(RHO):c.53G>A (p.Gly18Asp)
|
rs200946638
|
0.00003
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
0.00003
|
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)
|
rs759079269
|
0.00003
|
NM_001793.6(CDH3):c.2200G>A (p.Val734Met)
|
rs775541873
|
0.00003
|
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)
|
rs377600857
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)
|
rs754564043
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)
|
rs746837034
|
0.00003
|
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)
|
rs387907268
|
0.00002
|
NM_001142800.2(EYS):c.2259+1G>A
|
rs752736741
|
0.00002
|
NM_001242957.3(MAK):c.497G>A (p.Arg166His)
|
rs387906648
|
0.00002
|
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys)
|
rs1028371920
|
0.00002
|
NM_005530.3(IDH3A):c.911C>A (p.Pro304His)
|
rs756712426
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)
|
rs61755806
|
0.00001
|
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)
|
rs61755810
|
0.00001
|
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)
|
rs61750639
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_000440.3(PDE6A):c.2506+1G>A
|
rs1561671507
|
0.00001
|
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)
|
rs774215025
|
0.00001
|
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)
|
rs369937337
|
0.00001
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001201543.2(FAM161A):c.1321dup (p.His441fs)
|
rs1316281505
|
0.00001
|
NM_001370348.2(PHF3):c.*8063_*8068del
|
rs1296130120
|
0.00001
|
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)
|
rs766096417
|
0.00001
|
NM_020366.4(RPGRIP1):c.2249A>G (p.Tyr750Cys)
|
rs1594214013
|
0.00001
|
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
|
rs797045155
|
0.00001
|
NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr)
|
rs1293620319
|
0.00001
|
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)
|
rs202126574
|
0.00001
|
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)
|
rs387907136
|
0.00001
|
NM_201548.5(CERKL):c.238+1G>A
|
rs1276597208
|
0.00001
|
NM_201548.5(CERKL):c.2T>G (p.Met1Arg)
|
rs1187991259
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)
|
rs750418422
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val)
|
rs748393788
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
0.00001
|
NC_000006.11:g.64666416_66194230del
|
|
|
NC_000006.11:g.65376653_65743428del
|
|
|
NC_000006.12:g.64349976_64426764del
|
|
|
NM_000283.4(PDE6B):c.1417del (p.Leu473fs)
|
rs1577288305
|
|
NM_000283.4(PDE6B):c.1921-9C>G
|
rs1577301137
|
|
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp)
|
rs759382635
|
|
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)
|
rs375978676
|
|
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)
|
rs1554269081
|
|
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)
|
rs1554269053
|
|
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)
|
rs61755816
|
|
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)
|
rs1582764519
|
|
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)
|
rs28933990
|
|
NM_000329.3(RPE65):c.722A>T (p.His241Leu)
|
rs1557600322
|
|
NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs)
|
rs1571253050
|
|
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
|
|
|
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)
|
rs1581166539
|
|
NM_000440.3(PDE6A):c.2081_2085del (p.Glu694fs)
|
rs1581164936
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000440.3(PDE6A):c.409delinsCT (p.Asp137fs)
|
rs1581217626
|
|
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)
|
rs29001566
|
|
NM_000539.3(RHO):c.158C>G (p.Pro53Arg)
|
rs28933395
|
|
NM_000539.3(RHO):c.266G>A (p.Gly89Asp)
|
rs104893772
|
|
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)
|
rs104893775
|
|
NM_000539.3(RHO):c.497C>T (p.Ala166Val)
|
rs1578279746
|
|
NM_000539.3(RHO):c.511C>T (p.Pro171Ser)
|
rs104893794
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000539.3(RHO):c.548_638dup (p.Ile214fs)
|
rs1578280574
|
|
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)
|
rs1578280588
|
|
NM_000539.3(RHO):c.800C>T (p.Pro267Leu)
|
rs104893781
|
|
NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro)
|
rs1584728115
|
|
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)
|
rs794728002
|
|
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)
|
rs267606691
|
|
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs)
|
rs1572829514
|
|
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)
|
rs137853113
|
|
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter)
|
rs1601940608
|
|
NM_001034853.2(RPGR):c.1572+1G>A
|
rs1601931052
|
|
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)
|
rs1601924184
|
|
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)
|
rs1601982516
|
|
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)
|
rs907856232
|
|
NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs)
|
rs1601923578
|
|
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter)
|
rs1601923388
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)
|
rs1601978991
|
|
NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs)
|
rs1601920599
|
|
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)
|
rs1601920423
|
|
NM_001034853.2(RPGR):c.2797del (p.Glu933fs)
|
rs1346308311
|
|
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
|
rs1555961440
|
|
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)
|
rs1601972449
|
|
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
|
rs1601972255
|
|
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.897dup (p.Ile300fs)
|
rs1601951704
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1558AAT[1] (p.Asn521del)
|
rs747069281
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter)
|
rs1582932583
|
|
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)
|
rs1582376398
|
|
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)
|
rs983691310
|
|
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
|
rs878853350
|
|
NM_001142800.2(EYS):c.8105del (p.Asn2702fs)
|
rs1582146096
|
|
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)
|
rs764229134
|
|
NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter)
|
rs1168129071
|
|
NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs)
|
rs1582139308
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala)
|
rs1582139184
|
|
NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs)
|
rs1589313739
|
|
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)
|
rs397704718
|
|
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)
|
rs202193201
|
|
NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys)
|
rs1572875669
|
|
NM_001242957.3(MAK):c.393delinsACCTT (p.Leu132fs)
|
rs1581727126
|
|
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)
|
rs1286857064
|
|
NM_001354768.3(NRL):c.444_445insGCTGCGGG (p.Leu149fs)
|
rs1594246708
|
|
NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)
|
rs1578059695
|
|
NM_001379270.1(CNGA1):c.305del (p.Lys102fs)
|
rs1560621807
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_002602.4(PDE6G):c.187+1G>T
|
rs1598717056
|
|
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)
|
rs763272975
|
|
NM_003322.6(TULP1):c.1301G>A (p.Arg434Lys)
|
rs1581738478
|
|
NM_003816.3(ADAM9):c.1087T>A (p.Cys363Ser)
|
rs1588350497
|
|
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)
|
rs121434241
|
|
NM_004928.3(CFAP410):c.643-1G>C
|
rs1602071514
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)
|
rs1587620892
|
|
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)
|
rs1585563283
|
|
NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter)
|
rs1585563328
|
|
NM_006269.2(RP1):c.688G>T (p.Gly230Ter)
|
rs1585559122
|
|
NM_006445.4(PRPF8):c.3391AAG[1] (p.Lys1132del)
|
rs1176869304
|
|
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)
|
rs1555550617
|
|
NM_006915.3(RP2):c.102+1G>T
|
rs1602342663
|
|
NM_006915.3(RP2):c.25_28del (p.Lys10fs)
|
rs1602342597
|
|
NM_006915.3(RP2):c.2T>C (p.Met1Thr)
|
rs797044561
|
|
NM_006915.3(RP2):c.328T>C (p.Cys110Arg)
|
rs1602347741
|
|
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)
|
rs1556318633
|
|
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)
|
rs104894927
|
|
NM_006915.3(RP2):c.364del (p.Cys122fs)
|
rs1602347786
|
|
NM_006915.3(RP2):c.530_531del (p.Phe177fs)
|
rs1602347851
|
|
NM_012106.4(ARL2BP):c.101-1G>C
|
rs879255568
|
|
NM_012106.4(ARL2BP):c.38+2T>G
|
rs1597951232
|
|
NM_012469.4(PRPF6):c.2822_2824del (p.Phe941del)
|
rs747812103
|
|
NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser)
|
rs1597445687
|
|
NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu)
|
rs527236113
|
|
NM_014249.4(NR2E3):c.1038G>C (p.Gln346His)
|
rs1595957521
|
|
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)
|
rs1555454566
|
|
NM_014249.4(NR2E3):c.352G>A (p.Val118Met)
|
rs776270511
|
|
NM_014336.5(AIPL1):c.99del (p.Ile34fs)
|
rs1597340989
|
|
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr)
|
rs1596402406
|
|
NM_015072.5(TTLL5):c.2136+1G>A
|
rs1595009158
|
|
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter)
|
rs1184467860
|
|
NM_015629.4(PRPF31):c.689del (p.Lys230fs)
|
rs1600342032
|
|
NM_015629.4(PRPF31):c.697+1G>A
|
rs1600342050
|
|
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)
|
rs786205564
|
|
NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)
|
rs267606874
|
|
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)
|
rs1371805993
|
|
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs)
|
rs1594224781
|
|
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs)
|
rs1594280914
|
|
NM_021831.6(AGBL5):c.1787_1788del (p.His596fs)
|
rs1285501658
|
|
NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)
|
rs794726954
|
|
NM_144499.3(GNAT1):c.8del (p.Ala3fs)
|
rs1575415957
|
|
NM_152443.3(RDH12):c.658+1G>A
|
rs387906272
|
|
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)
|
rs1239043055
|
|
NM_152443.3(RDH12):c.759del (p.Phe254fs)
|
rs1594867516
|
|
NM_152443.3(RDH12):c.821T>C (p.Leu274Pro)
|
rs1594867597
|
|
NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg)
|
rs387907137
|
|
NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro)
|
rs1571524269
|
|
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)
|
rs768905244
|
|
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)
|
rs1571540258
|
|
NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly)
|
rs760544654
|
|
NM_201253.3(CRB1):c.424G>T (p.Gly142Ter)
|
rs1571848659
|
|
NM_201548.5(CERKL):c.450_451del (p.Ile150fs)
|
rs1574489337
|
|
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
|
|
|
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn)
|
rs1571681377
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
|
rs80338904
|
|
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala)
|
rs768158580
|
|
NM_206933.4(USH2A):c.377del (p.Ser126fs)
|
rs1571805235
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn)
|
rs1571715796
|
|