NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys)
|
rs61733363
|
0.00596
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
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_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
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_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_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.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
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_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_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_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
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_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)
|
rs149862950
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr)
|
rs200826424
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)
|
rs151141842
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_001297.5(CNGB1):c.413-1G>A
|
rs189234741
|
0.00010
|
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp)
|
rs1058635
|
0.00009
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys)
|
rs377269054
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
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_006269.2(RP1):c.5797C>T (p.Arg1933Ter)
|
rs118031911
|
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_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)
|
rs373448145
|
0.00006
|
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
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_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
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_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)
|
rs386833744
|
0.00004
|
NM_001142800.2(EYS):c.3878-2A>G
|
rs752930400
|
0.00004
|
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)
|
rs767414973
|
0.00004
|
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His)
|
rs375412499
|
0.00004
|
NM_016247.4(IMPG2):c.3023-6_3030dup
|
rs754995805
|
0.00004
|
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)
|
rs201893545
|
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.13274C>T (p.Thr4425Met)
|
rs201238640
|
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_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)
|
rs759011231
|
0.00003
|
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)
|
rs137853291
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)
|
rs770111708
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)
|
rs1326370032
|
0.00003
|
NM_001354768.3(NRL):c.23del (p.Leu8fs)
|
rs527236087
|
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_006343.3(MERTK):c.2302G>A (p.Ala768Thr)
|
rs878853353
|
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_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
NM_033100.4(CDHR1):c.1A>G (p.Met1Val)
|
rs794726954
|
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.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00003
|
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)
|
rs746837034
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
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_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
|
rs919157306
|
0.00002
|
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)
|
rs933169926
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)
|
rs774229391
|
0.00002
|
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)
|
rs771054395
|
0.00002
|
NM_001297.5(CNGB1):c.217+5G>C
|
rs527236060
|
0.00002
|
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)
|
rs1352458826
|
0.00002
|
NM_003322.6(TULP1):c.1063G>A (p.Asp355Asn)
|
rs1085307806
|
0.00002
|
NM_005530.3(IDH3A):c.911C>A (p.Pro304His)
|
rs756712426
|
0.00002
|
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)
|
rs772421550
|
0.00002
|
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)
|
rs527236086
|
0.00002
|
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)
|
rs773372123
|
0.00002
|
NM_018191.4(RCBTB1):c.919G>A (p.Val307Met)
|
rs368217569
|
0.00002
|
NM_201548.5(CERKL):c.481+2T>G
|
rs753994107
|
0.00002
|
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)
|
rs192119790
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_000283.4(PDE6B):c.1108-2A>G
|
rs1316718953
|
0.00001
|
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_000322.5(PRPH2):c.554T>C (p.Leu185Pro)
|
rs121918563
|
0.00001
|
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.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000350.3(ABCA4):c.5018+5G>A
|
rs1553188588
|
0.00001
|
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)
|
rs61750639
|
0.00001
|
NM_000440.3(PDE6A):c.1620+1G>A
|
rs781377291
|
0.00001
|
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)
|
rs144484128
|
0.00001
|
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp)
|
rs759589388
|
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_000554.6(CRX):c.897G>C (p.Leu299Phe)
|
rs527236063
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001077620.3(PRCD):c.74+1G>A
|
rs779066277
|
0.00001
|
NM_001134831.2(AHI1):c.2569_2570insAG (p.Phe857Ter)
|
rs773278338
|
0.00001
|
NM_001142800.2(EYS):c.1056+1G>A
|
rs1195522061
|
0.00001
|
NM_001142800.2(EYS):c.1057-1G>A
|
rs776564041
|
0.00001
|
NM_001142800.2(EYS):c.3164+1G>A
|
rs1029564423
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)
|
rs1211856182
|
0.00001
|
NM_001242957.3(MAK):c.101+1G>A
|
rs1300819259
|
0.00001
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
NM_001242957.3(MAK):c.496C>T (p.Arg166Cys)
|
rs527236081
|
0.00001
|
NM_001242957.3(MAK):c.553G>A (p.Ala185Thr)
|
rs527236080
|
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_001297.5(CNGB1):c.290+2T>C
|
rs1429797650
|
0.00001
|
NM_001379270.1(CNGA1):c.1621G>A (p.Gly541Ser)
|
rs527236057
|
0.00001
|
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)
|
rs527236117
|
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_006343.3(MERTK):c.225del (p.Gly76fs)
|
rs527236083
|
0.00001
|
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)
|
rs766096417
|
0.00001
|
NM_015102.5(NPHP4):c.2598_2607dup (p.Arg870fs)
|
rs752910449
|
0.00001
|
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys)
|
rs772592456
|
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_177965.4(CFAP418):c.529C>T (p.Arg177Trp)
|
rs387907136
|
0.00001
|
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter)
|
rs527236107
|
0.00001
|
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr)
|
rs776788104
|
0.00001
|
NM_201548.5(CERKL):c.526C>T (p.Gln176Ter)
|
rs988540767
|
0.00001
|
NM_201548.5(CERKL):c.613+4_613+5del
|
rs766131721
|
0.00001
|
NM_201548.5(CERKL):c.677+547G>C
|
rs1044562973
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
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.13604T>G (p.Met4535Arg)
|
rs750418422
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys)
|
rs756570931
|
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
|
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.7067A>G (p.Asn2356Ser)
|
rs756203141
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del
|
|
|
NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
|
|
|
NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
|
|
|
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
|
|
|
NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
|
|
|
NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
|
|
|
NC_000006.11:g.65133931_65156120dup
|
|
|
NC_000015.10:g.89206897_89214258del
|
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val)
|
rs527236085
|
|
NM_000260.4(MYO7A):c.785T>G (p.Met262Arg)
|
rs1952576456
|
|
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs)
|
rs1591277785
|
|
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs)
|
rs1360937549
|
|
NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro)
|
rs1553812554
|
|
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
|
|
|
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)
|
rs527236091
|
|
NM_000283.4(PDE6B):c.1654del (p.Arg552fs)
|
rs1577296602
|
|
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)
|
rs869312177
|
|
NM_000283.4(PDE6B):c.207dup (p.Ile70fs)
|
rs750147338
|
|
NM_000283.4(PDE6B):c.537_540del (p.Pro179_Ile180insTer)
|
rs1470086286
|
|
NM_000283.4(PDE6B):c.993-1G>C
|
rs527236090
|
|
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)
|
rs1761911206
|
|
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)
|
rs61755785
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys)
|
rs1064793237
|
|
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)
|
rs61755796
|
|
NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)
|
rs375978676
|
|
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)
|
rs1800116126
|
|
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)
|
rs61755800
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs)
|
rs1800115494
|
|
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)
|
rs61755810
|
|
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)
|
rs1554269053
|
|
NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)
|
rs1800114066
|
|
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter)
|
rs61755811
|
|
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)
|
rs61755816
|
|
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)
|
rs1800110989
|
|
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs)
|
rs1554268546
|
|
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg)
|
rs762326108
|
|
NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)
|
|
|
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)
|
rs1601892395
|
|
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)
|
rs1570382663
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.5196+3_5196+6del
|
rs61753023
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
|
|
|
NM_000390.4(CHM):c.3G>A (p.Met1Ile)
|
rs1603288875
|
|
NM_000440.3(PDE6A):c.1407+1G>A
|
rs781616522
|
|
NM_000440.3(PDE6A):c.1A>G (p.Met1Val)
|
rs976670244
|
|
NM_000440.3(PDE6A):c.2327del (p.Phe776fs)
|
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys)
|
rs141252097
|
|
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.1040C>G (p.Pro347Arg)
|
rs29001566
|
|
NM_000539.3(RHO):c.158C>G (p.Pro53Arg)
|
rs28933395
|
|
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)
|
rs527236101
|
|
NM_000539.3(RHO):c.265G>C (p.Gly89Arg)
|
rs1578278354
|
|
NM_000539.3(RHO):c.266G>A (p.Gly89Asp)
|
rs104893772
|
|
NM_000539.3(RHO):c.497C>T (p.Ala166Val)
|
rs1578279746
|
|
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)
|
rs1553781176
|
|
NM_000539.3(RHO):c.511C>T (p.Pro171Ser)
|
rs104893794
|
|
NM_000539.3(RHO):c.512C>A (p.Pro171Gln)
|
rs2084776162
|
|
NM_000539.3(RHO):c.512C>G (p.Pro171Arg)
|
rs2084776162
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)
|
rs1578280588
|
|
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)
|
rs104893779
|
|
NM_000539.3(RHO):c.800C>T (p.Pro267Leu)
|
rs104893781
|
|
NM_000539.3(RHO):c.83A>G (p.Gln28Arg)
|
rs1553780837
|
|
NM_000539.3(RHO):c.888G>T (p.Lys296Asn)
|
|
|
NM_000539.3(RHO):c.908C>G (p.Pro303Arg)
|
rs1578281100
|
|
NM_000539.3(RHO):c.934C>T (p.Gln312Ter)
|
rs1578281136
|
|
NM_000539.3(RHO):c.979_982del (p.Pro327fs)
|
rs527236102
|
|
NM_000541.4:c.513_806del
|
|
|
NM_000554.6(CRX):c.263A>G (p.Lys88Arg)
|
rs1001151383
|
|
NM_000554.6(CRX):c.448_449del (p.Ser150fs)
|
rs1555801989
|
|
NM_000554.6(CRX):c.684G>C (p.Gln228His)
|
rs756105390
|
|
NM_000883.4(IMPDH1):c.402+1G>T
|
rs1562998089
|
|
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)
|
rs1057518949
|
|
NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro)
|
rs1584728115
|
|
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val)
|
rs1584728088
|
|
NM_001012720.2(RGR):c.820del (p.Arg274fs)
|
rs1589337745
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001029883.3(PCARE):c.1763dup (p.Pro588_Glu589insTer)
|
rs763206332
|
|
NM_001029883.3(PCARE):c.2126del (p.Gly709fs)
|
rs527236055
|
|
NM_001029883.3(PCARE):c.2459_2460insA (p.Ser820fs)
|
rs1667491330
|
|
NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter)
|
rs1667480949
|
|
NM_001029883.3(PCARE):c.2985dup (p.Pro996fs)
|
rs1572826522
|
|
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs)
|
rs527236056
|
|
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)
|
rs1554286384
|
|
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)
|
rs1182983579
|
|
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)
|
rs137853113
|
|
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs)
|
rs527236109
|
|
NM_001034853.2(RPGR):c.114dup (p.His39fs)
|
rs2147291671
|
|
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.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.1573-3C>G
|
rs1601926845
|
|
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs)
|
rs2147203790
|
|
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs)
|
rs1601926125
|
|
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs)
|
rs1555961964
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter)
|
rs527236108
|
|
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)
|
rs1601982516
|
|
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
|
|
|
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2250_2251del (p.Lys751fs)
|
rs1555961849
|
|
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs)
|
rs2067186632
|
|
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
|
|
|
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter)
|
rs2067183876
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2420_2435del (p.Glu807fs)
|
rs2147197891
|
|
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter)
|
rs2147197770
|
|
NM_001034853.2(RPGR):c.2474_2475insT (p.Glu825fs)
|
rs2147197552
|
|
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs)
|
rs2067179633
|
|
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)
|
rs865977487
|
|
NM_001034853.2(RPGR):c.2506dup (p.Glu836fs)
|
rs1569236971
|
|
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs)
|
rs2067176379
|
|
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
|
|
|
NM_001034853.2(RPGR):c.264_265del (p.Lys88fs)
|
rs2147285764
|
|
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)
|
rs1601920532
|
|
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg)
|
rs1601978925
|
|
NM_001034853.2(RPGR):c.2817_2818del (p.Glu940fs)
|
rs2147194427
|
|
NM_001034853.2(RPGR):c.2824del (p.Glu942fs)
|
rs1601920131
|
|
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs)
|
rs1569235999
|
|
NM_001034853.2(RPGR):c.2909del (p.Gly970fs)
|
rs2147193425
|
|
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
|
rs2067138439
|
|
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT
|
rs1601978817
|
|
NM_001034853.2(RPGR):c.469+1G>A
|
rs62638646
|
|
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)
|
rs1601972449
|
|
NM_001034853.2(RPGR):c.779-3C>A
|
rs1555965712
|
|
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs)
|
rs527236111
|
|
NM_001034853.2(RPGR):c.914dup (p.Asn305fs)
|
rs1555965653
|
|
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro)
|
rs527236112
|
|
NM_001042432.2(CLN3):c.461-279_677+384del
|
rs1555468632
|
|
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)
|
rs1401497994
|
|
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)
|
rs748844685
|
|
NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)
|
|
|
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_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
|
|
|
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
|
|
|
NM_001142800.2(EYS):c.113C>A (p.Ser38Ter)
|
rs1288767318
|
|
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter)
|
rs866804139
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter)
|
rs527236077
|
|
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)
|
rs527236072
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)
|
rs758506938
|
|
NM_001142800.2(EYS):c.350del (p.Asn117fs)
|
rs1582376609
|
|
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)
|
rs1291867456
|
|
NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)
|
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4387del (p.Arg1463fs)
|
rs527236075
|
|
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs)
|
rs527236073
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter)
|
rs527236074
|
|
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs)
|
rs527236071
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
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.5536_5543del (p.Val1846fs)
|
rs2149830976
|
|
NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs)
|
rs2149830970
|
|
NM_001142800.2(EYS):c.5928-3_5928-1del
|
rs1554152094
|
|
NM_001142800.2(EYS):c.6191+2T>C
|
rs1769469813
|
|
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter)
|
rs1554204963
|
|
NM_001142800.2(EYS):c.6545del (p.Asn2182fs)
|
rs1346842287
|
|
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)
|
rs2149802267
|
|
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter)
|
rs1554194404
|
|
NM_001142800.2(EYS):c.7048del (p.Cys2350fs)
|
rs527236069
|
|
NM_001142800.2(EYS):c.7055+1G>A
|
rs1582079626
|
|
NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)
|
|
|
NM_001142800.2(EYS):c.7412-1G>C
|
rs1167742176
|
|
NM_001142800.2(EYS):c.749-1G>C
|
rs368159852
|
|
NM_001142800.2(EYS):c.7694del (p.Asn2565fs)
|
rs527236078
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs)
|
rs527236070
|
|
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
|
|
|
NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs)
|
rs1216993077
|
|
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs)
|
rs2149624980
|
|
NM_001142800.2(EYS):c.8678del (p.Asn2893fs)
|
rs1554163929
|
|
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
|
rs777482895
|
|
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)
|
rs1427770112
|
|
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)
|
rs772549804
|
|
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)
|
rs869312188
|
|
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala)
|
rs1582139184
|
|
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)
|
rs771640639
|
|
NM_001142800.2:c.6425-7585_7056-7439dup
|
|
|
NM_001201543.2(FAM161A):c.1420del (p.Ala474fs)
|
|
|
NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys)
|
rs1572875669
|
|
NM_001201543.2(FAM161A):c.378del (p.Gln127fs)
|
|
|
NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs)
|
rs1553354861
|
|
NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)
|
rs2105111295
|
|
NM_001201543.2(FAM161A):c.782del (p.Asp261fs)
|
rs1178184685
|
|
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs)
|
rs1196153507
|
|
NM_001242957.3(MAK):c.1143dup (p.Lys382Ter)
|
rs1581697849
|
|
NM_001242957.3(MAK):c.340dup (p.Ala114fs)
|
rs527236082
|
|
NM_001242957.3(MAK):c.393dup (p.Leu132fs)
|
|
|
NM_001256789.3(CACNA1F):c.818-1G>A
|
rs1602653742
|
|
NM_001297.5(CNGB1):c.1345del (p.Ala449fs)
|
rs1596996962
|
|
NM_001297.5(CNGB1):c.2271del (p.Asn758fs)
|
rs1596974169
|
|
NM_001297.5(CNGB1):c.2524dup (p.Thr842fs)
|
rs527236061
|
|
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)
|
rs760430056
|
|
NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer)
|
|
|
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.3131_3149dup (p.Phe1051fs)
|
rs1365926616
|
|
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)
|
rs756806434
|
|
NM_001297.5(CNGB1):c.60del (p.Met21fs)
|
rs1962422577
|
|
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter)
|
rs750620302
|
|
NM_001297.5(CNGB1):c.761+2T>A
|
rs1555493707
|
|
NM_001297.5:c.1536-3071_2634+31dup
|
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
NM_001378454.1(ALMS1):c.11646_11649dup (p.Asn3884fs)
|
rs2104189255
|
|
NM_001378454.1(ALMS1):c.4147dup (p.Gln1383fs)
|
rs1572934951
|
|
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs)
|
rs1671340542
|
|
NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)
|
rs1578059695
|
|
NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs)
|
rs768694789
|
|
NM_001379270.1(CNGA1):c.179del (p.Gly60fs)
|
rs527236058
|
|
NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter)
|
rs1436425494
|
|
NM_001379270.1(CNGA1):c.546-1G>C
|
rs1037963003
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001379270.1(CNGA1):c.977A>G (p.Asp326Gly)
|
rs527236059
|
|
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)
|
rs104893967
|
|
NM_001384910.1(GUCA1A):c.431A>T (p.Asp144Val)
|
rs1768035083
|
|
NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe)
|
rs1051579797
|
|
NM_001793.6(CDH3):c.3G>A (p.Met1Ile)
|
rs1238109100
|
|
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)
|
rs763272975
|
|
NM_003322.6(TULP1):c.1113-9_1113delinsCATC
|
rs2150924300
|
|
NM_003322.6(TULP1):c.361G>T (p.Glu121Ter)
|
rs1581744084
|
|
NM_003322.6(TULP1):c.415dup (p.Ile139fs)
|
|
|
NM_003322.6(TULP1):c.742_745del (p.Glu248fs)
|
rs1761147951
|
|
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del)
|
rs1555099048
|
|
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)
|
rs527236079
|
|
NM_004744.5(LRAT):c.264_265dup (p.Gln89fs)
|
rs1578860254
|
|
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)
|
rs140451304
|
|
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs)
|
rs1246790145
|
|
NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter)
|
rs201644238
|
|
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.2032C>T (p.Gln678Ter)
|
rs878853328
|
|
NM_006269.2(RP1):c.2041dup (p.Ile681fs)
|
rs1174193938
|
|
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter)
|
rs1250214380
|
|
NM_006269.2(RP1):c.2083del (p.Ile695fs)
|
rs1554519538
|
|
NM_006269.2(RP1):c.2115del (p.Gly706fs)
|
rs1585563204
|
|
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.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.4876G>A (p.Gly1626Arg)
|
rs527236106
|
|
NM_006269.2(RP1):c.5883del (p.Thr1962fs)
|
rs1554520068
|
|
NM_006269.2(RP1):c.615+1G>T
|
rs886210482
|
|
NM_006269.2(RP1):c.650del (p.Gly217fs)
|
rs527236105
|
|
NM_006269.2(RP1):c.830_831del (p.Ser277fs)
|
rs1585561400
|
|
NM_006343.2(MERTK):c.62_482dup
|
|
|
NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly)
|
rs746238212
|
|
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)
|
rs878853354
|
|
NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)
|
|
|
NM_006343.3(MERTK):c.757+1G>A
|
rs1573592124
|
|
NM_006343.3(MERTK):c.960+1G>A
|
rs1573607809
|
|
NM_006445.4(PRPF8):c.4477A>G (p.Thr1493Ala)
|
rs1479391155
|
|
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)
|
rs1555550617
|
|
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)
|
rs1911196248
|
|
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)
|
rs752997229
|
|
NM_006915.3(RP2):c.225del (p.Phe75fs)
|
|
|
NM_006915.3(RP2):c.276_277delinsA (p.Phe92fs)
|
|
|
NM_006915.3(RP2):c.328T>C (p.Cys110Arg)
|
rs1602347741
|
|
NM_006915.3(RP2):c.338C>A (p.Ala113Asp)
|
rs1556318627
|
|
NM_006915.3(RP2):c.352C>G (p.Arg118Gly)
|
rs1556318633
|
|
NM_006915.3(RP2):c.390T>A (p.Cys130Ter)
|
rs1602347792
|
|
NM_006915.3(RP2):c.826del (p.Asp276fs)
|
rs1602349705
|
|
NM_012469.4(PRPF6):c.550G>C (p.Asp184His)
|
rs527236096
|
|
NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser)
|
rs1597445687
|
|
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu)
|
rs933842186
|
|
NM_014014.5(SNRNP200):c.1704A>C (p.Glu568Asp)
|
rs2104355428
|
|
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys)
|
rs527236115
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu)
|
rs527236113
|
|
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu)
|
rs1477839027
|
|
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)
|
rs267607077
|
|
NM_014249.4(NR2E3):c.316AAG[1] (p.Lys107del)
|
|
|
NM_014249.4(NR2E3):c.352G>A (p.Val118Met)
|
rs776270511
|
|
NM_014249.4(NR2E3):c.554del (p.Lys185fs)
|
rs1595956455
|
|
NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter)
|
rs1595956595
|
|
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)
|
rs377257254
|
|
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
|
rs1597331616
|
|
NM_014714.4(IFT140):c.1155+1G>A
|
|
|
NM_014714.4(IFT140):c.2577+25G>A
|
rs1423102192
|
|
NM_014714.4(IFT140):c.2767_2768+2del
|
rs769075694
|
|
NM_015102.5(NPHP4):c.770_777del (p.Glu257fs)
|
rs2102003035
|
|
NM_015629.3:c.(?_-1)_(*1_?)del
|
|
|
NM_015629.3:c.(?_-1)_(238+1_239-1)del
|
|
|
NM_015629.4(PRPF31):c.-9+1G>T
|
|
|
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)
|
rs868538598
|
|
NM_015629.4(PRPF31):c.1095del (p.Leu366fs)
|
rs2146445593
|
|
NM_015629.4(PRPF31):c.1129del (p.Arg377fs)
|
rs1555794302
|
|
NM_015629.4(PRPF31):c.1147-153_1196del
|
rs1555794509
|
|
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter)
|
rs2146449862
|
|
NM_015629.4(PRPF31):c.1190dup (p.His398fs)
|
rs1600360338
|
|
NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer)
|
rs1600360654
|
|
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu)
|
rs1555791188
|
|
NM_015629.4(PRPF31):c.239-2A>G
|
rs1600334904
|
|
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile)
|
rs1600324262
|
|
NM_015629.4(PRPF31):c.421-2A>G
|
rs1600340117
|
|
NM_015629.4(PRPF31):c.535delinsGG (p.Leu179fs)
|
rs2146420485
|
|
NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter)
|
rs527236094
|
|
NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter)
|
rs144738703
|
|
NM_015629.4(PRPF31):c.666_668del (p.Ile223del)
|
rs1600341902
|
|
NM_015629.4(PRPF31):c.673del (p.Ala225fs)
|
rs1600341931
|
|
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs)
|
rs2073701307
|
|
NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu)
|
rs527236095
|
|
NM_015629.4(PRPF31):c.821T>C (p.Ile274Thr)
|
rs2073875700
|
|
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs)
|
rs1555793207
|
|
NM_015629.4(PRPF31):c.855+1G>T
|
rs1057520752
|
|
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)
|
rs2073926924
|
|
NM_015629.4(PRPF31):c.950del (p.Gly317fs)
|
rs886041773
|
|
NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter)
|
rs1600355373
|
|
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_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe)
|
rs879255547
|
|
NM_020366.4(RPGRIP1):c.2020C>T (p.Pro674Ser)
|
rs1328030621
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs)
|
rs1555302710
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_024649.5(BBS1):c.1473+2T>G
|
rs1856699646
|
|
NM_024649.5(BBS1):c.1713del (p.Gly572fs)
|
rs1555050487
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs)
|
rs1581312596
|
|
NM_032119.4(ADGRV1):c.4379-1G>A
|
rs1432643009
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)
|
rs1477733493
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)
|
rs1842216995
|
|
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)
|
rs2140141345
|
|
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)
|
rs368489658
|
|
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr)
|
rs1594865719
|
|
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.716G>T (p.Arg239Leu)
|
rs1239043055
|
|
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)
|
rs200387832
|
|
NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg)
|
rs1578491064
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
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.1429G>A (p.Gly477Arg)
|
rs866822473
|
|
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)
|
rs780580887
|
|
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)
|
rs1571523755
|
|
NM_201253.3(CRB1):c.1562C>T (p.Ala521Val)
|
rs1664306632
|
|
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.1893T>G (p.Tyr631Ter)
|
rs1571525390
|
|
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_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.3991C>G (p.Arg1331Gly)
|
rs760544654
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201548.5(CERKL):c.1073+3_1073+6del
|
rs1553513437
|
|
NM_201548.5(CERKL):c.1366-2A>G
|
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
NM_201548.5(CERKL):c.420del (p.Ile141fs)
|
rs398122962
|
|
NM_201548.5(CERKL):c.568del (p.Val190fs)
|
|
|
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)
|
rs769632183
|
|
NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala)
|
rs2124489724
|
|
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
|
|
|
NM_206933.2(USH2A):c.8682delG
|
rs527236120
|
|
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
|
|
|
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)
|
rs1183957540
|
|
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn)
|
rs1571681377
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu)
|
rs1553257685
|
|
NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu)
|
rs1472714005
|
|
NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile)
|
rs1571953381
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
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.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp)
|
rs527236127
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter)
|
rs1571945537
|
|
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
|
rs80338904
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu)
|
rs527236125
|
|
NM_206933.4(USH2A):c.1722_1723insGA (p.Cys575fs)
|
rs527236121
|
|
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)
|
rs1571623023
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2810-1G>A
|
rs778336512
|
|
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)
|
rs1572060087
|
|
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala)
|
rs768158580
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.487T>C (p.Cys163Arg)
|
rs2039619957
|
|
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)
|
rs527236123
|
|
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala)
|
rs750077857
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs)
|
rs1571941465
|
|
NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs)
|
rs2102549174
|
|
NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly)
|
rs2030621345
|
|
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter)
|
rs55958016
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp)
|
rs1553274531
|
|
NM_206933.4(USH2A):c.8223+1G>C
|
rs1553273280
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.9259-503_9371+1650del
|
|
|
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)
|
rs1359713084
|
|
NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly)
|
rs1453306308
|
|
NM_206933.4(USH2A):c.9391dup (p.Val3131fs)
|
rs2102796558
|
|
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn)
|
rs1571715796
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val)
|
rs1553263639
|
|
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg)
|
rs745413794
|
|
Single allele
|
|
|