NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
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_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_000539.3(RHO):c.439C>T (p.Arg147Cys)
|
rs200165530
|
0.00040
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)
|
rs202210819
|
0.00032
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg)
|
rs368367104
|
0.00019
|
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)
|
rs142857810
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_177972.3(TUB):c.1270G>A (p.Glu424Lys)
|
rs370188104
|
0.00017
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
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_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000283.4(PDE6B):c.1540del (p.Leu514fs)
|
rs398123298
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
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_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_138393.4(REEP6):c.223G>A (p.Glu75Lys)
|
rs144942685
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_000350.3(ABCA4):c.3608-35A>G
|
rs372604876
|
0.00008
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_001242957.3(MAK):c.647T>C (p.Leu216Ser)
|
rs182178532
|
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_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)
|
rs369437807
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)
|
rs121918579
|
0.00006
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000350.3(ABCA4):c.302+68C>T
|
rs761188244
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165
|
0.00006
|
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)
|
rs760798455
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_004183.4(BEST1):c.974T>C (p.Met325Thr)
|
rs368387447
|
0.00006
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp)
|
rs142759730
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)
|
rs757696771
|
0.00006
|
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter)
|
rs188492864
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)
|
rs375181157
|
0.00005
|
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)
|
rs121909205
|
0.00005
|
NM_000539.3(RHO):c.178T>C (p.Tyr60His)
|
rs771007146
|
0.00005
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)
|
rs757725696
|
0.00005
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)
|
rs752300607
|
0.00005
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_205861.3(DHDDS):c.476G>A (p.Arg159His)
|
rs369429285
|
0.00005
|
NM_207352.4(CYP4V2):c.1091-2A>G
|
rs199476183
|
0.00005
|
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp)
|
rs774268095
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)
|
rs146591309
|
0.00004
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
0.00004
|
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)
|
rs775138548
|
0.00004
|
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)
|
rs1468358104
|
0.00004
|
NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg)
|
rs544807110
|
0.00004
|
NM_014714.4(IFT140):c.903-5T>G
|
rs900599017
|
0.00004
|
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys)
|
rs75939033
|
0.00004
|
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)
|
rs201994921
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
|
rs116733939
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
|
rs373037737
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000539.3(RHO):c.53G>A (p.Gly18Asp)
|
rs200946638
|
0.00003
|
NM_000843.4(GRM6):c.2240C>T (p.Ser747Leu)
|
rs759761288
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.7228+1G>A
|
rs758899480
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)
|
rs886041141
|
0.00003
|
NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu)
|
rs922930539
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg)
|
rs776024427
|
0.00003
|
NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter)
|
rs764109533
|
0.00003
|
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)
|
rs746867724
|
0.00003
|
NM_025114.4(CEP290):c.1523-412C>T
|
rs1381940328
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
|
rs764600063
|
0.00003
|
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
|
rs761231974
|
0.00003
|
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)
|
rs28940314
|
0.00003
|
NM_152443.3(RDH12):c.194G>A (p.Arg65Gln)
|
rs745471670
|
0.00003
|
NM_152443.3(RDH12):c.844T>G (p.Phe282Val)
|
rs756887056
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_201548.5(CERKL):c.222del (p.Gln74fs)
|
rs1476585944
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)
|
rs576236830
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.2332G>A (p.Val778Met)
|
rs775321796
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000539.3(RHO):c.316G>A (p.Gly106Arg)
|
rs104893773
|
0.00002
|
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
|
rs761732432
|
0.00002
|
NM_001142800.2(EYS):c.-448+5G>A
|
rs1175129177
|
0.00002
|
NM_001142800.2(EYS):c.2259+1G>A
|
rs752736741
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)
|
rs933169926
|
0.00002
|
NM_001242957.3(MAK):c.497G>A (p.Arg166His)
|
rs387906648
|
0.00002
|
NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala)
|
rs765792753
|
0.00002
|
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln)
|
rs1279906432
|
0.00002
|
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys)
|
rs774614339
|
0.00002
|
NM_006269.2(RP1):c.1126C>T (p.Arg376Ter)
|
rs760689800
|
0.00002
|
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)
|
rs765129639
|
0.00002
|
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
|
rs750331066
|
0.00002
|
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)
|
rs375909217
|
0.00002
|
NM_019892.6(INPP5E):c.1760del (p.Val587fs)
|
rs775518991
|
0.00002
|
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val)
|
rs758652031
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
|
rs61750172
|
0.00001
|
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu)
|
rs1236572248
|
0.00001
|
NM_000283.4(PDE6B):c.1895T>C (p.Phe632Ser)
|
rs773420808
|
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_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
0.00001
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
0.00001
|
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)
|
rs765429911
|
0.00001
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)
|
rs61750153
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)
|
rs29001566
|
0.00001
|
NM_000539.3(RHO):c.185C>A (p.Thr62Asn)
|
rs769464362
|
0.00001
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)
|
rs748370008
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001142800.2(EYS):c.1056+3A>C
|
rs747923761
|
0.00001
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.2023+5G>A
|
rs1287889008
|
0.00001
|
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
|
rs371032798
|
0.00001
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer)
|
rs1064796020
|
0.00001
|
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)
|
rs569561277
|
0.00001
|
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)
|
rs1057517802
|
0.00001
|
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)
|
rs771833874
|
0.00001
|
NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter)
|
rs1064794573
|
0.00001
|
NM_001297.5(CNGB1):c.2582del (p.Gln861fs)
|
rs772330738
|
0.00001
|
NM_001330691.3(CEP78):c.1424del (p.Val475fs)
|
rs1196886096
|
0.00001
|
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter)
|
rs1210581905
|
0.00001
|
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp)
|
rs963466695
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)
|
rs782245537
|
0.00001
|
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)
|
rs527236117
|
0.00001
|
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)
|
rs748685592
|
0.00001
|
NM_004744.5(LRAT):c.316G>A (p.Ala106Thr)
|
rs920685564
|
0.00001
|
NM_004928.3(CFAP410):c.355C>T (p.Gln119Ter)
|
rs1457263136
|
0.00001
|
NM_004928.3(CFAP410):c.96+1G>A
|
rs752137434
|
0.00001
|
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)
|
rs1033920857
|
0.00001
|
NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter)
|
rs1359338583
|
0.00001
|
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp)
|
rs1910997588
|
0.00001
|
NM_006531.5(IFT88):c.1373C>T (p.Ala458Val)
|
rs751716540
|
0.00001
|
NM_012469.4(PRPF6):c.2752G>A (p.Asp918Asn)
|
rs765346207
|
0.00001
|
NM_014014.5(SNRNP200):c.2581T>C (p.Tyr861His)
|
rs1490753612
|
0.00001
|
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)
|
rs786205493
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_014714.4(IFT140):c.634+5G>A
|
rs1323647622
|
0.00001
|
NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg)
|
rs763668481
|
0.00001
|
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His)
|
rs992814593
|
0.00001
|
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr)
|
rs765327224
|
0.00001
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
NM_022124.6(CDH23):c.2525G>A (p.Arg842Gln)
|
rs753068359
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp)
|
rs397517364
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_025132.4(WDR19):c.2909C>T (p.Ala970Val)
|
rs771583357
|
0.00001
|
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe)
|
rs796543493
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_032119.4(ADGRV1):c.14972+1G>T
|
rs780011571
|
0.00001
|
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile)
|
rs1746861436
|
0.00001
|
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)
|
rs778571042
|
0.00001
|
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)
|
rs971610277
|
0.00001
|
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)
|
rs745871149
|
0.00001
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201548.5(CERKL):c.967_968del (p.Met323fs)
|
rs750151209
|
0.00001
|
NM_205861.3(DHDDS):c.681C>G (p.Phe227Leu)
|
rs773292741
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
|
rs1289393326
|
0.00001
|
NM_206933.4(USH2A):c.11389+1G>T
|
rs368770647
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)
|
rs1254637647
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.5598T>C (p.Val1866=)
|
rs771810761
|
0.00001
|
NM_206933.4(USH2A):c.6958-8A>T
|
rs769264662
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)
|
rs1043013730
|
0.00001
|
NC_000004.12:g.670405_677862del
|
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu)
|
rs1248867031
|
|
NM_000214.3(JAG1):c.2628_2635del (p.Trp876_Asp879delinsTer)
|
rs2122597276
|
|
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)
|
rs111033232
|
|
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)
|
rs869312177
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000283.4(PDE6B):c.2427_2428dup (p.Leu810fs)
|
rs2109284029
|
|
NM_000329.3(RPE65):c.1282G>T (p.Gly428Trp)
|
rs2100807435
|
|
NM_000329.3(RPE65):c.1348C>G (p.Leu450Val)
|
rs2100807072
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)
|
rs1571158279
|
|
NM_000329.3(RPE65):c.350C>T (p.Ser117Phe)
|
rs2100828189
|
|
NM_000329.3(RPE65):c.89dup (p.Thr31fs)
|
rs281865286
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)
|
rs757302286
|
|
NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer)
|
rs2101069758
|
|
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg)
|
rs1660620409
|
|
NM_000350.3(ABCA4):c.3862+1G>A
|
rs61751400
|
|
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs)
|
rs61751401
|
|
NM_000350.3(ABCA4):c.442+2T>A
|
rs1662504014
|
|
NM_000350.3(ABCA4):c.5461-1G>T
|
rs2101008577
|
|
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)
|
rs2101008373
|
|
NM_000350.3(ABCA4):c.859-13T>C
|
rs1246188478
|
|
NM_000390.4(CHM):c.83C>G (p.Ser28Ter)
|
rs2147791162
|
|
NM_000440.3(PDE6A):c.1097del (p.Asp366fs)
|
rs1581186849
|
|
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg)
|
rs2113582384
|
|
NM_000440.3(PDE6A):c.1926+1G>A
|
rs794727139
|
|
NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter)
|
rs1450419928
|
|
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)
|
rs754012367
|
|
NM_000440.3(PDE6A):c.2506+7G>A
|
rs1382186195
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)
|
rs142322202
|
|
NM_000539.3(RHO):c.218A>G (p.Asn73Ser)
|
rs779169631
|
|
NM_000539.3(RHO):c.302G>T (p.Gly101Val)
|
rs759945007
|
|
NM_000539.3(RHO):c.404G>T (p.Arg135Leu)
|
rs104893774
|
|
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)
|
rs1553781176
|
|
NM_000539.3(RHO):c.512C>T (p.Pro171Leu)
|
rs2084776162
|
|
NM_000539.3(RHO):c.538C>A (p.Pro180Thr)
|
rs1560046837
|
|
NM_000539.3(RHO):c.647T>A (p.Met216Lys)
|
rs984572250
|
|
NM_000539.3(RHO):c.68C>A (p.Pro23His)
|
rs104893768
|
|
NM_000539.3(RHO):c.755G>A (p.Arg252His)
|
rs765438313
|
|
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del)
|
rs121918590
|
|
NM_000539.3(RHO):c.895G>A (p.Ala299Thr)
|
rs779665096
|
|
NM_000539.3(RHO):c.913A>G (p.Ile305Val)
|
rs199701338
|
|
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)
|
rs121912550
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter)
|
rs2108595322
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter)
|
rs2148416171
|
|
NM_001029883.3(PCARE):c.1663del (p.Val555fs)
|
rs2148416150
|
|
NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter)
|
rs1238711555
|
|
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)
|
rs1182983579
|
|
NM_001034853.2(RPGR):c.1754-3C>G
|
rs2147201026
|
|
NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter)
|
rs2147200625
|
|
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter)
|
rs2147290510
|
|
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)
|
rs2147199844
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.3097dup (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.310G>A (p.Glu104Lys)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.778+1del
|
rs2147261624
|
|
NM_001042432.2(CLN3):c.317T>A (p.Leu106His)
|
rs2046245840
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr)
|
rs1064796021
|
|
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter)
|
rs1769936722
|
|
NM_001142800.2(EYS):c.2021_2023+1dup
|
rs2150286198
|
|
NM_001142800.2(EYS):c.2461G>T (p.Gly821Ter)
|
rs2150076887
|
|
NM_001142800.2(EYS):c.34_35del (p.Met12fs)
|
rs2127271977
|
|
NM_001142800.2(EYS):c.3567del (p.Gly1190fs)
|
rs1767601116
|
|
NM_001142800.2(EYS):c.3606C>A (p.Cys1202Ter)
|
rs1297699863
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
|
rs750840208
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.7797_7800del (p.His2599fs)
|
rs2149664330
|
|
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
|
rs751629543
|
|
NM_001142800.2(EYS):c.8239T>G (p.Phe2747Val)
|
rs1279860809
|
|
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)
|
rs528919874
|
|
NM_001142800.2(EYS):c.8815T>C (p.Cys2939Arg)
|
rs2149624604
|
|
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr)
|
rs1582139965
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs)
|
rs1270198704
|
|
NM_001166114.2(PNPLA6):c.3202_3205dup (p.Ile1069fs)
|
rs2146108245
|
|
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)
|
rs397704718
|
|
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter)
|
rs2105080547
|
|
NM_001242957.3(MAK):c.1143+2_1143+3del
|
rs2127548040
|
|
NM_001242957.3(MAK):c.366dup (p.His123fs)
|
rs1776708973
|
|
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter)
|
rs774264204
|
|
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)
|
rs760430056
|
|
NM_001297.5(CNGB1):c.2603dup (p.Val869fs)
|
rs2149359033
|
|
NM_001297.5(CNGB1):c.2634+2T>C
|
rs2149359022
|
|
NM_001297.5(CNGB1):c.2635-2A>T
|
rs2149358592
|
|
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)
|
rs1365926616
|
|
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs)
|
rs753353134
|
|
NM_001354768.3(NRL):c.151C>T (p.Pro51Ser)
|
rs794727281
|
|
NM_001354768.3(NRL):c.152C>A (p.Pro51His)
|
rs2036353653
|
|
NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs)
|
rs2104189157
|
|
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys)
|
rs2103787360
|
|
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)
|
rs2109070129
|
|
NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro)
|
rs748126956
|
|
NM_001379270.1(CNGA1):c.1704_1705insT (p.Leu569fs)
|
rs2110127572
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs)
|
rs2136511549
|
|
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs)
|
rs1555211286
|
|
NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp)
|
rs1761069157
|
|
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)
|
rs1761067394
|
|
NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs)
|
rs2150921584
|
|
NM_003322.6(TULP1):c.821del (p.Lys274fs)
|
rs774204108
|
|
NM_003322.6(TULP1):c.99+1G>A
|
rs281865166
|
|
NM_003816.3(ADAM9):c.576del (p.Glu193fs)
|
rs2129433190
|
|
NM_003816.3(ADAM9):c.997-3C>G
|
rs755598388
|
|
NM_004183.4(BEST1):c.968A>T (p.Asp323Val)
|
rs752756768
|
|
NM_004928.3(CFAP410):c.143+3A>T
|
|
|
NM_004928.3(CFAP410):c.19_21del (p.Met7del)
|
|
|
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)
|
rs140451304
|
|
NM_004928.3(CFAP410):c.291C>G (p.Asn97Lys)
|
|
|
NM_004928.3(CFAP410):c.373+91A>G
|
|
|
NM_004928.3(CFAP410):c.382GAG[2] (p.Glu130del)
|
|
|
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs)
|
rs756970705
|
|
NM_004928.3(CFAP410):c.73T>C (p.Cys25Arg)
|
|
|
NM_005802.5(TOPORS):c.2038AGA[1] (p.Arg681del)
|
rs1467439518
|
|
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006269.2(RP1):c.1234dup (p.Met412fs)
|
rs760283610
|
|
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)
|
rs104894082
|
|
NM_006269.2(RP1):c.2108del (p.Asn703fs)
|
rs1806033536
|
|
NM_006269.2(RP1):c.2515C>T (p.Gln839Ter)
|
rs2129316679
|
|
NM_006269.2(RP1):c.4171del (p.Gln1391fs)
|
rs2129317503
|
|
NM_006269.2(RP1):c.5017del (p.Tyr1673fs)
|
rs753090404
|
|
NM_006269.2(RP1):c.668del (p.Gly223fs)
|
rs1231321479
|
|
NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter)
|
rs868566811
|
|
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs)
|
rs776644374
|
|
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)
|
rs775776288
|
|
NM_006343.3(MERTK):c.2190-1G>T
|
rs2104423659
|
|
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs)
|
rs1342715176
|
|
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly)
|
rs1912457869
|
|
NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp)
|
rs1911029601
|
|
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu)
|
rs121434236
|
|
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)
|
rs1064797215
|
|
NM_006531.5(IFT88):c.1082dup (p.Asn361fs)
|
rs1594100988
|
|
NM_006915.3(RP2):c.103-2A>G
|
rs2147081133
|
|
NM_006915.3(RP2):c.768G>C (p.Glu256Asp)
|
rs1227276668
|
|
NM_006915.3(RP2):c.969+2T>C
|
rs1925392056
|
|
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)
|
rs527236113
|
|
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)
|
rs267607077
|
|
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)
|
rs377257254
|
|
NM_015102.5(NPHP4):c.3498G>T (p.Glu1166Asp)
|
rs1387983031
|
|
NM_015102.5(NPHP4):c.673+5G>T
|
rs1346224220
|
|
NM_015629.4(PRPF31):c.1146+2T>G
|
rs2073971890
|
|
NM_015629.4(PRPF31):c.1212_1221del (p.Val407fs)
|
rs2146450161
|
|
NM_015629.4(PRPF31):c.1276-2del
|
rs2146450721
|
|
NM_015629.4(PRPF31):c.136del (p.Asp46fs)
|
rs2146393019
|
|
NM_015629.4(PRPF31):c.238+1_238+7del
|
rs2146394271
|
|
NM_015629.4(PRPF31):c.239-1G>A
|
rs2073798309
|
|
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter)
|
rs2146418999
|
|
NM_015629.4(PRPF31):c.527+3A>G
|
rs587776590
|
|
NM_015629.4(PRPF31):c.541_551GAG[3]CTCCGAGGAGGAGCT[1] (p.Glu185fs)
|
rs2146420554
|
|
NM_015629.4(PRPF31):c.633del (p.Met212fs)
|
rs2146421305
|
|
NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs)
|
rs2146392668
|
|
NM_015629.4(PRPF31):c.855+5G>A
|
rs2146426154
|
|
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter)
|
rs1555794205
|
|
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp)
|
rs1668091920
|
|
NM_015662.3(IFT172):c.2158del (p.Arg720fs)
|
rs587777086
|
|
NM_015662.3(IFT172):c.2788-3C>G
|
rs2148500413
|
|
NM_016247.4(IMPG2):c.2233del (p.Glu745fs)
|
rs1197126131
|
|
NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe)
|
rs1706305751
|
|
NM_019098.5(CNGB3):c.1663-2137C>T
|
rs998703203
|
|
NM_019892.6(INPP5E):c.1094C>T (p.Ser365Leu)
|
rs1388522044
|
|
NM_019892.6(INPP5E):c.1267T>C (p.Ser423Pro)
|
rs2131608631
|
|
NM_019892.6(INPP5E):c.1800C>G (p.Asp600Glu)
|
rs1158332419
|
|
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer)
|
rs779450345
|
|
NM_019892.6(INPP5E):c.907G>T (p.Val303Leu)
|
rs746212325
|
|
NM_019892.6(INPP5E):c.914C>T (p.Thr305Ile)
|
rs2131611272
|
|
NM_019892.6(INPP5E):c.943_965dup (p.Leu323fs)
|
rs2131610473
|
|
NM_019892.6(INPP5E):c.[1787G>C;746C>T]
|
|
|
NM_020366.4(RPGRIP1):c.772G>T (p.Glu258Ter)
|
rs2139160690
|
|
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp)
|
rs760879110
|
|
NM_022124.6(CDH23):c.7978del (p.Asp2660fs)
|
rs2132983724
|
|
NM_022124.6(CDH23):c.8693C>A (p.Ser2898Tyr)
|
rs1841789978
|
|
NM_024649.5(BBS1):c.227T>A (p.Val76Glu)
|
rs2134771309
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
|
rs1177923180
|
|
NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro)
|
rs2149812991
|
|
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr)
|
rs2149973588
|
|
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)
|
rs2150063224
|
|
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn)
|
rs2150136010
|
|
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)
|
rs41302834
|
|
NM_033100.4(CDHR1):c.863-1G>A
|
rs886041900
|
|
NM_052989.3(IFT122):c.3649del (p.Glu1217fs)
|
rs2084588345
|
|
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter)
|
rs202036979
|
|
NM_133497.4(KCNV2):c.364C>G (p.Arg122Gly)
|
rs761130319
|
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
rs766631462
|
|
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu)
|
rs778481181
|
|
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly)
|
rs1594865341
|
|
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr)
|
rs1594865719
|
|
NM_152443.3(RDH12):c.440A>C (p.Asn147Thr)
|
rs1566847499
|
|
NM_152443.3(RDH12):c.697G>A (p.Val233Ile)
|
rs140257538
|
|
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
|
rs386834261
|
|
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)
|
rs200387832
|
|
NM_152564.5(VPS13B):c.148-17A>G
|
rs2132221851
|
|
NM_152564.5(VPS13B):c.2117T>C (p.Met706Thr)
|
rs2132624500
|
|
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs)
|
rs2132624625
|
|
NM_152564.5(VPS13B):c.580+1G>T
|
rs1846848656
|
|
NM_177972.3(TUB):c.1215+1G>A
|
rs1589996458
|
|
NM_201253.3(CRB1):c.1027T>C (p.Cys343Arg)
|
rs2125354340
|
|
NM_201253.3(CRB1):c.1268G>A (p.Cys423Tyr)
|
rs2125469069
|
|
NM_201253.3(CRB1):c.1696G>T (p.Glu566Ter)
|
rs767359805
|
|
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
|
rs1266363944
|
|
NM_201253.3(CRB1):c.18del (p.Asn7fs)
|
rs2125193922
|
|
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala)
|
rs2125471502
|
|
NM_201253.3(CRB1):c.2043T>G (p.Cys681Trp)
|
rs2125471930
|
|
NM_201253.3(CRB1):c.2363T>G (p.Leu788Arg)
|
rs1664662355
|
|
NM_201253.3(CRB1):c.2560G>T (p.Asp854Tyr)
|
rs1553261618
|
|
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)
|
rs1664678030
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)
|
rs1452661857
|
|
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)
|
rs2125500431
|
|
NM_201253.3(CRB1):c.3896del (p.Asp1299fs)
|
rs2125513602
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201548.5(CERKL):c.109C>T (p.Gln37Ter)
|
rs1414280804
|
|
NM_201548.5(CERKL):c.237_238+13del
|
rs746128841
|
|
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)
|
rs569826109
|
|
NM_201548.5(CERKL):c.366_367del (p.Phe123fs)
|
rs1305408254
|
|
NM_201548.5(CERKL):c.872C>T (p.Thr291Ile)
|
rs1264403798
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10318del (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
|
rs527236139
|
|
NM_206933.4(USH2A):c.11815_11817dup (p.Glu3939dup)
|
rs2102713686
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)
|
rs577938494
|
|
NM_206933.4(USH2A):c.12848T>C (p.Ile4283Thr)
|
rs754131049
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
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.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.288del (p.Tyr97fs)
|
rs2102788658
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)
|
rs748369458
|
|
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter)
|
rs2102467034
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)
|
rs2034908815
|
|
NM_206933.4(USH2A):c.4085C>T (p.Pro1362Leu)
|
rs2102460775
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4251+1G>T
|
rs878853405
|
|
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs)
|
rs1475129324
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4771G>A (p.Glu1591Lys)
|
rs2102565367
|
|
NM_206933.4(USH2A):c.5298+3A>G
|
rs775992706
|
|
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter)
|
rs761075303
|
|
NM_206933.4(USH2A):c.6267T>A (p.Cys2089Ter)
|
rs755646290
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
|
rs1668203744
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro)
|
rs2102499658
|
|
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)
|
rs2102470142
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)
|
rs1188281491
|
|
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
|
rs2102658782
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_207352.4(CYP4V2):c.802-8_810delinsGC
|
rs207482233
|
|