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_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
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_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)
|
rs61752395
|
0.00176
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_000278.5(PAX2):c.932C>T (p.Ala311Val)
|
rs78738655
|
0.00126
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
NM_000541.5(SAG):c.182-2A>G
|
rs201086679
|
0.00051
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00039
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)
|
rs201976061
|
0.00037
|
NM_033100.4(CDHR1):c.55+1G>A
|
rs547198427
|
0.00036
|
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)
|
rs867446205
|
0.00035
|
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
|
rs61750648
|
0.00034
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)
|
rs61740289
|
0.00029
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_001004334.4(GPR179):c.4699_4700del (p.Ser1567fs)
|
rs369324783
|
0.00021
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_001354768.3(NRL):c.654del (p.Cys219fs)
|
rs761024023
|
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_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_006017.3(PROM1):c.2490-2A>G
|
rs375813885
|
0.00011
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)
|
rs149071415
|
0.00009
|
NM_001297.5(CNGB1):c.2794+1G>A
|
rs770011113
|
0.00009
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)
|
rs748531024
|
0.00008
|
NM_015072.5(TTLL5):c.3508C>T (p.Arg1170Ter)
|
rs769845921
|
0.00008
|
NM_201548.5(CERKL):c.193G>T (p.Glu65Ter)
|
rs201186440
|
0.00008
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)
|
rs201870277
|
0.00007
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)
|
rs374156343
|
0.00006
|
NM_000350.3(ABCA4):c.302+1G>A
|
rs61751413
|
0.00006
|
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)
|
rs1002670900
|
0.00006
|
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)
|
rs145265791
|
0.00005
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_012106.4(ARL2BP):c.207+1G>A
|
rs199830550
|
0.00005
|
NM_207352.4(CYP4V2):c.1091-2A>G
|
rs199476183
|
0.00005
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro)
|
rs61752430
|
0.00004
|
NM_000539.3(RHO):c.745G>T (p.Glu249Ter)
|
rs104893783
|
0.00004
|
NM_001142800.2(EYS):c.220del (p.Val74fs)
|
rs1375767063
|
0.00004
|
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
|
rs374714909
|
0.00004
|
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)
|
rs746499646
|
0.00004
|
NM_001379270.1(CNGA1):c.105C>A (p.Cys35Ter)
|
rs1237954156
|
0.00004
|
NM_006214.4(PHYH):c.497-2A>G
|
rs144169488
|
0.00004
|
NM_006269.2(RP1):c.121T>C (p.Tyr41His)
|
rs746359399
|
0.00004
|
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)
|
rs541717028
|
0.00004
|
NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg)
|
rs544807110
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)
|
rs765914942
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_178857.6(RP1L1):c.1451del (p.Ser484fs)
|
rs749460193
|
0.00004
|
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)
|
rs121965057
|
0.00003
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)
|
rs138965708
|
0.00003
|
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)
|
rs751844313
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu)
|
rs1435861529
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_004928.3(CFAP410):c.493del (p.Ser165fs)
|
rs752395624
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)
|
rs104894492
|
0.00003
|
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)
|
rs772881093
|
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_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)
|
rs755588045
|
0.00003
|
NM_022124.6(CDH23):c.5187+1G>A
|
rs1280991447
|
0.00003
|
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)
|
rs140257538
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)
|
rs397517930
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)
|
rs754564043
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)
|
rs398123299
|
0.00002
|
NM_000283.4(PDE6B):c.992+1G>A
|
rs898144119
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys)
|
rs61748547
|
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_000350.3(ABCA4):c.4880del (p.Leu1627fs)
|
rs763911476
|
0.00002
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
0.00002
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
NM_001242957.3(MAK):c.1356_1357del (p.Glu454fs)
|
rs762837543
|
0.00002
|
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)
|
rs774229391
|
0.00002
|
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys)
|
rs1377555853
|
0.00002
|
NM_003322.6(TULP1):c.1153G>A (p.Gly385Arg)
|
rs766181526
|
0.00002
|
NM_004183.4(BEST1):c.1550C>G (p.Ser517Ter)
|
rs762398929
|
0.00002
|
NM_004183.4(BEST1):c.1740-2A>G
|
rs1190983296
|
0.00002
|
NM_004928.3(CFAP410):c.96+6T>A
|
rs758835278
|
0.00002
|
NM_005869.4(CWC27):c.1156dup (p.Leu386fs)
|
rs1372091680
|
0.00002
|
NM_006017.3(PROM1):c.1238T>A (p.Val413Asp)
|
rs563415711
|
0.00002
|
NM_006017.3(PROM1):c.303+1G>A
|
rs777673930
|
0.00002
|
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)
|
rs765129639
|
0.00002
|
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)
|
rs772421550
|
0.00002
|
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter)
|
rs753018563
|
0.00002
|
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)
|
rs750340477
|
0.00002
|
NM_016247.4(IMPG2):c.667-1G>A
|
rs1334444660
|
0.00002
|
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter)
|
rs775124094
|
0.00002
|
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His)
|
rs758951947
|
0.00002
|
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)
|
rs781192528
|
0.00002
|
NM_144499.3(GNAT1):c.282del (p.Ala95fs)
|
rs778059585
|
0.00002
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)
|
rs759088490
|
0.00002
|
NM_177972.3(TUB):c.1387+1G>A
|
rs1040410003
|
0.00002
|
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)
|
rs567106336
|
0.00002
|
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)
|
rs267598278
|
0.00002
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
NM_206933.4(USH2A):c.1644+1G>A
|
rs912980910
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn)
|
rs766646217
|
0.00001
|
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)
|
rs878853343
|
0.00001
|
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)
|
rs777849213
|
0.00001
|
NM_000260.4(MYO7A):c.1563del (p.Asp521fs)
|
rs1064794012
|
0.00001
|
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)
|
rs397516308
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)
|
rs760042062
|
0.00001
|
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)
|
rs201541131
|
0.00001
|
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met)
|
rs761619791
|
0.00001
|
NM_000283.4(PDE6B):c.181G>T (p.Glu61Ter)
|
rs767438881
|
0.00001
|
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu)
|
rs751413984
|
0.00001
|
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter)
|
rs876657718
|
0.00001
|
NM_000283.4(PDE6B):c.837del (p.Asp279fs)
|
rs746141070
|
0.00001
|
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)
|
rs779414078
|
0.00001
|
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)
|
rs61755810
|
0.00001
|
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)
|
rs61755766
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
|
rs1444234037
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)
|
rs374224955
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)
|
rs746566873
|
0.00001
|
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)
|
rs61749448
|
0.00001
|
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro)
|
rs61748530
|
0.00001
|
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp)
|
rs886039300
|
0.00001
|
NM_000350.3(ABCA4):c.3329-1G>A
|
rs544428779
|
0.00001
|
NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro)
|
rs1287053724
|
0.00001
|
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter)
|
rs61752428
|
0.00001
|
NM_000350.3(ABCA4):c.4253+5G>A
|
rs61750138
|
0.00001
|
NM_000350.3(ABCA4):c.4312C>G (p.Pro1438Ala)
|
rs1046550021
|
0.00001
|
NM_000350.3(ABCA4):c.4352+1G>A
|
rs200967229
|
0.00001
|
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)
|
rs1385119665
|
0.00001
|
NM_000350.3(ABCA4):c.4715_4718dup (p.Glu1574fs)
|
rs1340989734
|
0.00001
|
NM_000350.3(ABCA4):c.4848+1G>A
|
rs1659900228
|
0.00001
|
NM_000350.3(ABCA4):c.5018+5G>A
|
rs1553188588
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)
|
rs61750573
|
0.00001
|
NM_000350.3(ABCA4):c.5460+1G>T
|
rs61753030
|
0.00001
|
NM_000350.3(ABCA4):c.564del (p.Glu189fs)
|
rs886044148
|
0.00001
|
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu)
|
rs62642579
|
0.00001
|
NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly)
|
rs757449019
|
0.00001
|
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)
|
rs1057520213
|
0.00001
|
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)
|
rs61750652
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000390.4(CHM):c.1446del (p.Gly483fs)
|
rs1244003380
|
0.00001
|
NM_000431.4(MVK):c.380C>T (p.Pro127Leu)
|
rs775474803
|
0.00001
|
NM_000440.3(PDE6A):c.1407+1G>C
|
rs781616522
|
0.00001
|
NM_000440.3(PDE6A):c.1620+1G>A
|
rs781377291
|
0.00001
|
NM_000440.3(PDE6A):c.1620+2T>A
|
rs1383907349
|
0.00001
|
NM_000539.3(RHO):c.325G>A (p.Gly109Arg)
|
rs1415160298
|
0.00001
|
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)
|
rs749738655
|
0.00001
|
NM_000554.6(CRX):c.119G>A (p.Arg40Gln)
|
rs771450991
|
0.00001
|
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)
|
rs61748436
|
0.00001
|
NM_001029883.3(PCARE):c.958del (p.Arg320fs)
|
rs1558490060
|
0.00001
|
NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs)
|
rs1569237670
|
0.00001
|
NM_001042472.3(ABHD12):c.755C>T (p.Ala252Val)
|
rs1300228825
|
0.00001
|
NM_001122769.3(LCA5):c.661T>G (p.Leu221Val)
|
rs750639988
|
0.00001
|
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)
|
rs1295206142
|
0.00001
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)
|
rs1245121527
|
0.00001
|
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)
|
rs1389794536
|
0.00001
|
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)
|
rs1245304444
|
0.00001
|
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
|
rs909730457
|
0.00001
|
NM_001142800.2(EYS):c.7578+1G>A
|
rs1228475082
|
0.00001
|
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)
|
rs1197863938
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001242957.3(MAK):c.553G>A (p.Ala185Thr)
|
rs527236080
|
0.00001
|
NM_001242957.3(MAK):c.718_719del (p.Gln240fs)
|
rs1039053911
|
0.00001
|
NM_001252024.2(TRPM1):c.580G>T (p.Gly194Cys)
|
rs2034398158
|
0.00001
|
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys)
|
rs1557106557
|
0.00001
|
NM_001256789.3(CACNA1F):c.4008+1G>A
|
rs782557600
|
0.00001
|
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter)
|
rs757470958
|
0.00001
|
NM_001330691.3(CEP78):c.1417G>T (p.Glu473Ter)
|
rs1363359148
|
0.00001
|
NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp)
|
rs1042726781
|
0.00001
|
NM_001330691.3(CEP78):c.76C>T (p.Gln26Ter)
|
rs776271026
|
0.00001
|
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
|
rs1674967197
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001379270.1(CNGA1):c.1688del (p.Ser563fs)
|
rs1738673948
|
0.00001
|
NM_001379500.1(COL18A1):c.1897-2A>G
|
rs778612831
|
0.00001
|
NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro)
|
rs713993047
|
0.00001
|
NM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter)
|
rs781881541
|
0.00001
|
NM_002905.5(RDH5):c.355G>A (p.Gly119Arg)
|
rs778777287
|
0.00001
|
NM_003322.6(TULP1):c.100C>T (p.Arg34Ter)
|
rs1331834680
|
0.00001
|
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)
|
rs751589956
|
0.00001
|
NM_003322.6(TULP1):c.971A>C (p.Tyr324Ser)
|
rs749776323
|
0.00001
|
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)
|
rs980876322
|
0.00001
|
NM_004183.4(BEST1):c.38G>A (p.Arg13His)
|
rs281865209
|
0.00001
|
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser)
|
rs281865236
|
0.00001
|
NM_004183.4(BEST1):c.449G>C (p.Arg150Pro)
|
rs1249897117
|
0.00001
|
NM_004183.4(BEST1):c.5C>G (p.Thr2Ser)
|
rs1209208472
|
0.00001
|
NM_004727.3(SLC24A1):c.680del (p.Ala227fs)
|
rs2074443699
|
0.00001
|
NM_004928.3(CFAP410):c.137C>T (p.Thr46Met)
|
rs763821454
|
0.00001
|
NM_006017.3(PROM1):c.1002+5G>A
|
rs1196489060
|
0.00001
|
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis)
|
rs777497868
|
0.00001
|
NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter)
|
rs761152494
|
0.00001
|
NM_006017.3(PROM1):c.1579-2A>C
|
rs1472802723
|
0.00001
|
NM_006017.3(PROM1):c.2077-521A>G
|
rs796051882
|
0.00001
|
NM_006204.4(PDE6C):c.2425del (p.Arg809fs)
|
rs2058673701
|
0.00001
|
NM_006343.3(MERTK):c.1650del (p.Ile550fs)
|
rs1252719064
|
0.00001
|
NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter)
|
rs774755041
|
0.00001
|
NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys)
|
rs757858711
|
0.00001
|
NM_012338.4(TSPAN12):c.460del (p.Gln154fs)
|
rs1793956441
|
0.00001
|
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)
|
rs766096417
|
0.00001
|
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)
|
rs770890983
|
0.00001
|
NM_014714.4(IFT140):c.4040+1G>A
|
rs748523056
|
0.00001
|
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter)
|
rs762817061
|
0.00001
|
NM_015072.5(TTLL5):c.1408C>T (p.Arg470Ter)
|
rs766173950
|
0.00001
|
NM_015072.5(TTLL5):c.1654C>T (p.Arg552Ter)
|
rs779740894
|
0.00001
|
NM_015102.5(NPHP4):c.2444dup (p.Val816fs)
|
rs1643875847
|
0.00001
|
NM_015629.4(PRPF31):c.837C>T (p.Ile279=)
|
rs1374316824
|
0.00001
|
NM_016247.4(IMPG2):c.1739T>G (p.Leu580Ter)
|
rs770399625
|
0.00001
|
NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer)
|
rs771980888
|
0.00001
|
NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter)
|
rs878853357
|
0.00001
|
NM_016247.4(IMPG2):c.826G>T (p.Glu276Ter)
|
rs746003280
|
0.00001
|
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)
|
rs75895925
|
0.00001
|
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)
|
rs577932201
|
0.00001
|
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)
|
rs1429786931
|
0.00001
|
NM_022124.6(CDH23):c.2398-1G>T
|
rs751788879
|
0.00001
|
NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter)
|
rs769742202
|
0.00001
|
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln)
|
rs751644763
|
0.00001
|
NM_024685.4(BBS10):c.206T>A (p.Val69Glu)
|
rs1176176320
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)
|
rs370581600
|
0.00001
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter)
|
rs778188580
|
0.00001
|
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)
|
rs1131691924
|
0.00001
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)
|
rs2065896039
|
0.00001
|
NM_033100.4(CDHR1):c.954_958del (p.His319fs)
|
rs760608593
|
0.00001
|
NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter)
|
rs778977288
|
0.00001
|
NM_133497.4(KCNV2):c.643A>T (p.Lys215Ter)
|
rs763785730
|
0.00001
|
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter)
|
rs761991624
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_152443.3(RDH12):c.210dup (p.Arg71fs)
|
rs797044761
|
0.00001
|
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)
|
rs200302290
|
0.00001
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter)
|
rs763759470
|
0.00001
|
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)
|
rs749746650
|
0.00001
|
NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter)
|
rs1426006136
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201253.3(CRB1):c.653-1G>T
|
rs760287363
|
0.00001
|
NM_201548.5(CERKL):c.1566T>G (p.Tyr522Ter)
|
rs1278226911
|
0.00001
|
NM_201548.5(CERKL):c.967_968del (p.Met323fs)
|
rs750151209
|
0.00001
|
NM_206933.4(USH2A):c.11585C>G (p.Thr3862Arg)
|
rs886044126
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp)
|
rs755480221
|
0.00001
|
NM_206933.4(USH2A):c.13392G>A (p.Trp4464Ter)
|
rs1219505844
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.14791+5G>T
|
rs1235430504
|
0.00001
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5573-834A>G
|
rs1558244152
|
0.00001
|
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
|
rs769609970
|
0.00001
|
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly)
|
rs772407116
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
|
rs762358589
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NC_000011.10:g.119346419_119352600del
|
|
|
NC_000015.10:g.89206897_89214258del
|
|
|
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro)
|
rs1975925973
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr)
|
rs1975936032
|
|
NM_000180.4(GUCY2D):c.2899del (p.His967fs)
|
rs61750183
|
|
NM_000180.4(GUCY2D):c.2926C>T (p.Arg976Cys)
|
rs1975949139
|
|
NM_000180.4(GUCY2D):c.3175A>T (p.Arg1059Ter)
|
rs878853342
|
|
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)
|
rs143745703
|
|
NM_000188.3(HK1):c.409T>A (p.Phe137Ile)
|
|
|
NM_000214.3(JAG1):c.73_74del (p.Arg25fs)
|
rs2067513100
|
|
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter)
|
rs782639389
|
|
NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro)
|
rs1953075862
|
|
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)
|
rs878853378
|
|
NM_000260.4(MYO7A):c.2302A>T (p.Lys768Ter)
|
rs1954927143
|
|
NM_000260.4(MYO7A):c.2694+1G>A
|
rs1955083613
|
|
NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter)
|
rs878853376
|
|
NM_000260.4(MYO7A):c.4568+1G>A
|
rs1956849074
|
|
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs)
|
rs111033276
|
|
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)
|
rs111033477
|
|
NM_000260.4(MYO7A):c.6355-2A>G
|
rs1957972028
|
|
NM_000274.4(OAT):c.1014+1G>A
|
rs1951414426
|
|
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)
|
rs121965045
|
|
NM_000283.4(PDE6B):c.1031T>C (p.Leu344Pro)
|
|
|
NM_000283.4(PDE6B):c.1066A>G (p.Asn356Asp)
|
rs1736225856
|
|
NM_000283.4(PDE6B):c.1161dup (p.Ile388fs)
|
rs1736334634
|
|
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)
|
rs527236091
|
|
NM_000283.4(PDE6B):c.1841dup (p.Asn614fs)
|
rs747970185
|
|
NM_000283.4(PDE6B):c.1927_1969delinsGG (p.Asn643fs)
|
rs1737428529
|
|
NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter)
|
rs1737429976
|
|
NM_000283.4(PDE6B):c.2019dup (p.Lys674fs)
|
|
|
NM_000283.4(PDE6B):c.2353-18_2354del
|
rs1174120641
|
|
NM_000283.4(PDE6B):c.315del (p.Glu105fs)
|
rs1734075026
|
|
NM_000283.4(PDE6B):c.774C>G (p.His258Gln)
|
rs1735848896
|
|
NM_000283.4(PDE6B):c.993-1G>C
|
rs527236090
|
|
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)
|
rs1242862941
|
|
NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter)
|
rs1761921113
|
|
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)
|
rs527236097
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg)
|
rs1761907993
|
|
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)
|
rs1582780550
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
|
NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.581+1G>A
|
rs1761904690
|
|
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)
|
rs62645931
|
|
NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)
|
rs2152005352
|
|
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)
|
rs61755799
|
|
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)
|
rs61755800
|
|
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
|
rs61755801
|
|
NM_000322.5(PRPH2):c.644A>C (p.Asn215Thr)
|
|
|
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg)
|
rs61755806
|
|
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)
|
|
|
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
|
rs61755809
|
|
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)
|
rs1554269053
|
|
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val)
|
rs1800113364
|
|
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)
|
rs61755813
|
|
NM_000322.5(PRPH2):c.743del (p.Arg248fs)
|
rs1800111486
|
|
NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe)
|
rs1458793437
|
|
NM_000322.5(PRPH2):c.765_769del (p.Ser256fs)
|
rs1800110798
|
|
NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter)
|
rs1800110757
|
|
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)
|
rs1582764519
|
|
NM_000322.5(PRPH2):c.828G>T (p.Glu276Asp)
|
|
|
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)
|
rs1799988458
|
|
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs)
|
rs1799986489
|
|
NM_000322.5(PRPH2):c.964_965del (p.Ser322fs)
|
rs1799985749
|
|
NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter)
|
rs561618945
|
|
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)
|
rs786205626
|
|
NM_000327.4(ROM1):c.712del (p.Leu238fs)
|
rs747855165
|
|
NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe)
|
rs1645824260
|
|
NM_000329.3(RPE65):c.1420T>G (p.Ser474Ala)
|
|
|
NM_000330.4(RS1):c.133G>T (p.Gly45Ter)
|
rs1928222017
|
|
NM_000330.4(RS1):c.176G>A (p.Cys59Tyr)
|
rs1928220547
|
|
NM_000330.4(RS1):c.253_255del (p.Asn85del)
|
rs61750458
|
|
NM_000330.4(RS1):c.266dup (p.Tyr89Ter)
|
rs1927819239
|
|
NM_000330.4(RS1):c.316C>T (p.Gln106Ter)
|
rs1386256334
|
|
NM_000330.4(RS1):c.337C>T (p.Leu113Phe)
|
rs61752145
|
|
NM_000330.4(RS1):c.35T>A (p.Leu12His)
|
rs62645879
|
|
NM_000330.4(RS1):c.375_379del (p.Asp126fs)
|
rs1927703176
|
|
NM_000330.4(RS1):c.460C>T (p.Gln154Ter)
|
rs61753164
|
|
NM_000330.4(RS1):c.53-1G>A
|
rs1928241490
|
|
NM_000330.4(RS1):c.655T>C (p.Cys219Arg)
|
rs281865369
|
|
NM_000350.3(ABCA4):c.1016G>A (p.Trp339Ter)
|
rs1661663692
|
|
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.108del (p.Leu37fs)
|
rs62642569
|
|
NM_000350.3(ABCA4):c.1192dup (p.Ile398fs)
|
rs1661625047
|
|
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)
|
rs1553193813
|
|
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg)
|
rs886039299
|
|
NM_000350.3(ABCA4):c.160+2T>A
|
rs886044721
|
|
NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs)
|
rs1661162346
|
|
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter)
|
rs878853396
|
|
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys)
|
rs61749414
|
|
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu)
|
rs760790294
|
|
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs)
|
rs1553192432
|
|
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter)
|
rs1660843703
|
|
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)
|
rs869312184
|
|
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu)
|
rs58331765
|
|
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp)
|
rs61749449
|
|
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)
|
rs1570377861
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.2980_2987del (p.Ile994fs)
|
rs1306732480
|
|
NM_000350.3(ABCA4):c.302+4A>C
|
rs1662599697
|
|
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs)
|
rs878853397
|
|
NM_000350.3(ABCA4):c.3235_3236del (p.Asp1079fs)
|
rs1660532299
|
|
NM_000350.3(ABCA4):c.3279C>A (p.Asp1093Glu)
|
rs1237125868
|
|
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn)
|
rs1553190559
|
|
NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter)
|
rs373868915
|
|
NM_000350.3(ABCA4):c.3379G>A (p.Gly1127Arg)
|
rs1660481072
|
|
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)
|
rs1801269
|
|
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu)
|
rs1660480045
|
|
NM_000350.3(ABCA4):c.3607+1G>A
|
rs61752421
|
|
NM_000350.3(ABCA4):c.3682G>T (p.Glu1228Ter)
|
rs1057517869
|
|
NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp)
|
rs61752422
|
|
NM_000350.3(ABCA4):c.4254-1G>A
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter)
|
rs1283350532
|
|
NM_000350.3(ABCA4):c.4340_4343del (p.Glu1447fs)
|
rs1660166963
|
|
NM_000350.3(ABCA4):c.4468T>G (p.Cys1490Gly)
|
rs61750148
|
|
NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe)
|
rs1660137001
|
|
NM_000350.3(ABCA4):c.4634+1del
|
rs1659997092
|
|
NM_000350.3(ABCA4):c.4654dup (p.Val1552fs)
|
rs1659953619
|
|
NM_000350.3(ABCA4):c.4667+1G>A
|
rs751319688
|
|
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs)
|
rs61752438
|
|
NM_000350.3(ABCA4):c.4880T>C (p.Leu1627Pro)
|
|
|
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)
|
rs201996979
|
|
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg)
|
rs1659840790
|
|
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)
|
rs1057518955
|
|
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)
|
rs886044747
|
|
NM_000350.3(ABCA4):c.5203del (p.Tyr1735fs)
|
rs1659721337
|
|
NM_000350.3(ABCA4):c.5289del (p.Val1764fs)
|
rs1553188071
|
|
NM_000350.3(ABCA4):c.5313-2A>G
|
rs759513613
|
|
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter)
|
rs776757706
|
|
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp)
|
rs61750574
|
|
NM_000350.3(ABCA4):c.53G>C (p.Arg18Pro)
|
rs868543294
|
|
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5575G>A (p.Ala1859Thr)
|
|
|
NM_000350.3(ABCA4):c.5580del (p.Phe1861fs)
|
rs1659538743
|
|
NM_000350.3(ABCA4):c.570+2T>G
|
|
|
NM_000350.3(ABCA4):c.5846del (p.Gly1949fs)
|
rs1659452428
|
|
NM_000350.3(ABCA4):c.5887C>A (p.Arg1963Ser)
|
|
|
NM_000350.3(ABCA4):c.5915del (p.Gly1972fs)
|
rs1659430143
|
|
NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg)
|
rs61750639
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala)
|
rs1571247308
|
|
NM_000350.3(ABCA4):c.6005+1G>T
|
rs61748517
|
|
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)
|
rs1553186896
|
|
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)
|
rs61750644
|
|
NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter)
|
rs62642580
|
|
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)
|
|
|
NM_000350.3(ABCA4):c.6386+1G>A
|
rs745654673
|
|
NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs)
|
rs1659061509
|
|
NM_000350.3(ABCA4):c.6817-2A>G
|
rs1658918693
|
|
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter)
|
rs1356104318
|
|
NM_000390.2(CHM):c.1167del
|
rs1927017073
|
|
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
|
|
|
NM_000390.4(CHM):c.1094_1095del (p.Leu365fs)
|
rs1929999634
|
|
NM_000390.4(CHM):c.116+1G>T
|
rs786204761
|
|
NM_000390.4(CHM):c.1286_1287del (p.Ile428_Ser429insTer)
|
|
|
NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)
|
|
|
NM_000390.4(CHM):c.1349+3A>C
|
rs1326972655
|
|
NM_000390.4(CHM):c.1411C>T (p.Gln471Ter)
|
rs1926202704
|
|
NM_000390.4(CHM):c.1438G>T (p.Glu480Ter)
|
|
|
NM_000390.4(CHM):c.1649T>C (p.Leu550Pro)
|
|
|
NM_000390.4(CHM):c.1770+2T>A
|
rs1924181543
|
|
NM_000390.4(CHM):c.189+1G>C
|
rs1931625021
|
|
NM_000390.4(CHM):c.315-1536A>G
|
rs1555955061
|
|
NM_000390.4(CHM):c.355C>T (p.Gln119Ter)
|
rs1930445401
|
|
NM_000390.4(CHM):c.37del (p.Ile12_Val13insTer)
|
rs1934694621
|
|
NM_000390.4(CHM):c.436_439del (p.Leu146fs)
|
rs1930435879
|
|
NM_000390.4(CHM):c.49+2T>C
|
rs1934693393
|
|
NM_000390.4(CHM):c.509del (p.Asn170fs)
|
|
|
NM_000390.4(CHM):c.534dup (p.Glu179fs)
|
|
|
NM_000390.4(CHM):c.535dup (p.Glu179fs)
|
rs1930424797
|
|
NM_000390.4(CHM):c.586del (p.Asp195_Met196insTer)
|
rs1930421028
|
|
NM_000390.4(CHM):c.653C>G (p.Ser218Ter)
|
rs1930414140
|
|
NM_000390.4(CHM):c.820-1G>A
|
rs1930090887
|
|
NM_000390.4(CHM):c.88del (p.Ser30fs)
|
|
|
NM_000431.4(MVK):c.794T>G (p.Leu265Arg)
|
rs104895316
|
|
NM_000440.3(PDE6A):c.1263+1G>T
|
rs369896113
|
|
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)
|
rs773065850
|
|
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter)
|
rs1754021035
|
|
NM_000440.3(PDE6A):c.999-2A>G
|
rs1753232409
|
|
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)
|
rs863225084
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)
|
rs142322202
|
|
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn)
|
rs2084801470
|
|
NM_000539.3(RHO):c.1034T>A (p.Val345Glu)
|
rs1578281706
|
|
NM_000539.3(RHO):c.1045T>C (p.Ter349Gln)
|
rs2084801700
|
|
NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter)
|
rs2084757329
|
|
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)
|
rs28933394
|
|
NM_000539.3(RHO):c.263T>C (p.Leu88Pro)
|
rs1057521112
|
|
NM_000539.3(RHO):c.316G>T (p.Gly106Trp)
|
rs104893773
|
|
NM_000539.3(RHO):c.532T>C (p.Tyr178His)
|
rs2084785435
|
|
NM_000539.3(RHO):c.538C>G (p.Pro180Ala)
|
rs1560046837
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000539.3(RHO):c.560G>T (p.Cys187Phe)
|
rs1578280588
|
|
NM_000539.3(RHO):c.562G>A (p.Gly188Arg)
|
rs527236100
|
|
NM_000539.3(RHO):c.568G>A (p.Asp190Asn)
|
rs104893779
|
|
NM_000539.3(RHO):c.569A>G (p.Asp190Gly)
|
rs104893777
|
|
NM_000539.3(RHO):c.578C>A (p.Thr193Lys)
|
|
|
NM_000539.3(RHO):c.632A>C (p.His211Pro)
|
rs28933993
|
|
NM_000539.3(RHO):c.647T>A (p.Met216Lys)
|
rs984572250
|
|
NM_000539.3(RHO):c.647T>G (p.Met216Arg)
|
rs984572250
|
|
NM_000539.3(RHO):c.68C>T (p.Pro23Leu)
|
rs104893768
|
|
NM_000539.3(RHO):c.918T>A (p.Tyr306Ter)
|
|
|
NM_000539.3(RHO):c.937-2A>G
|
rs1578281565
|
|
NM_000539.3(RHO):c.948C>A (p.Cys316Ter)
|
|
|
NM_000539.3(RHO):c.969C>A (p.Cys323Ter)
|
rs142771862
|
|
NM_000541.5(SAG):c.238G>T (p.Gly80Cys)
|
|
|
NM_000554.6(CRX):c.101-1G>A
|
rs1968115710
|
|
NM_000554.6(CRX):c.124G>A (p.Glu42Lys)
|
rs863224863
|
|
NM_000554.6(CRX):c.193G>C (p.Asp65His)
|
rs527236062
|
|
NM_000554.6(CRX):c.24dup (p.Pro9fs)
|
rs62636512
|
|
NM_000554.6(CRX):c.431_434del (p.Pro144fs)
|
rs1968165008
|
|
NM_000554.6(CRX):c.437_449del (p.Leu146fs)
|
rs1968165080
|
|
NM_000554.6(CRX):c.586del (p.Ala196fs)
|
rs1968169004
|
|
NM_000554.6(CRX):c.605del (p.Cys202fs)
|
rs878853383
|
|
NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs)
|
rs1968170098
|
|
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter)
|
rs1064797247
|
|
NM_000554.6(CRX):c.727G>T (p.Gly243Ter)
|
|
|
NM_000717.5(CA4):c.687C>A (p.Cys229Ter)
|
|
|
NM_000717.5(CA4):c.937T>C (p.Ter313Arg)
|
|
|
NM_000843.4(GRM6):c.1205_1229del (p.Gln402fs)
|
rs1760621228
|
|
NM_000883.4(IMPDH1):c.1296_1297del (p.Tyr433fs)
|
|
|
NM_000883.4(IMPDH1):c.1299C>A (p.Tyr433Ter)
|
|
|
NM_000883.4(IMPDH1):c.809T>G (p.Leu270Arg)
|
|
|
NM_000883.4(IMPDH1):c.809_810delinsGT (p.Leu270Arg)
|
rs1798216037
|
|
NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro)
|
rs121912552
|
|
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)
|
rs121912550
|
|
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)
|
rs1562989913
|
|
NM_001017979.3(RAB28):c.502del (p.Leu168fs)
|
rs1328767121
|
|
NM_001023570.4(IQCB1):c.1278+1G>A
|
rs1553711564
|
|
NM_001029883.3(PCARE):c.1883_1887del (p.Ala628fs)
|
rs1667506537
|
|
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs)
|
rs1667504255
|
|
NM_001029883.3(PCARE):c.2092A>T (p.Lys698Ter)
|
|
|
NM_001029883.3(PCARE):c.2665dup (p.Leu889fs)
|
rs1558488513
|
|
NM_001029883.3(PCARE):c.2751del (p.Arg918fs)
|
rs1182748194
|
|
NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs)
|
rs761147595
|
|
NM_001029883.3(PCARE):c.3316G>T (p.Glu1106Ter)
|
|
|
NM_001029883.3(PCARE):c.402_405del (p.Ser134fs)
|
rs762973163
|
|
NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del
|
|
|
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)
|
rs1182983579
|
|
NM_001031710.3(KLHL7):c.472T>C (p.Cys158Arg)
|
rs1784156837
|
|
NM_001034853.2(RPGR):c.1040del (p.Phe346_Leu347insTer)
|
|
|
NM_001034853.2(RPGR):c.1048A>G (p.Ile350Val)
|
|
|
NM_001034853.2(RPGR):c.1060-2A>G
|
rs2067453631
|
|
NM_001034853.2(RPGR):c.1077T>A (p.Cys359Ter)
|
|
|
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)
|
rs62635001
|
|
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter)
|
rs2067451355
|
|
NM_001034853.2(RPGR):c.1135G>T (p.Glu379Ter)
|
|
|
NM_001034853.2(RPGR):c.1170del (p.Leu391fs)
|
rs2067449854
|
|
NM_001034853.2(RPGR):c.1245+3A>G
|
rs62635002
|
|
NM_001034853.2(RPGR):c.128dup (p.Asp44fs)
|
rs2067985696
|
|
NM_001034853.2(RPGR):c.1304_1305del (p.Leu435fs)
|
|
|
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)
|
rs886044302
|
|
NM_001034853.2(RPGR):c.1491del (p.Asp498fs)
|
rs2067277129
|
|
NM_001034853.2(RPGR):c.1538del (p.Lys513fs)
|
rs2067267431
|
|
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
|
|
|
NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)
|
|
|
NM_001034853.2(RPGR):c.1573-2del
|
|
|
NM_001034853.2(RPGR):c.1642G>T (p.Glu548Ter)
|
|
|
NM_001034853.2(RPGR):c.1663G>T (p.Glu555Ter)
|
rs2067218363
|
|
NM_001034853.2(RPGR):c.1677T>A (p.Cys559Ter)
|
rs2067217874
|
|
NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs)
|
rs2067976665
|
|
NM_001034853.2(RPGR):c.1691dup (p.Gln565fs)
|
rs2067217398
|
|
NM_001034853.2(RPGR):c.1721_1722insAT (p.Thr574_Thr575insTer)
|
|
|
NM_001034853.2(RPGR):c.1724_1725insGCATGAAGCAT (p.Ile576fs)
|
|
|
NM_001034853.2(RPGR):c.1807del (p.Glu603fs)
|
|
|
NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs)
|
rs2067201139
|
|
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg)
|
rs2067975926
|
|
NM_001034853.2(RPGR):c.2002del (p.His668fs)
|
|
|
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
|
|
|
NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs)
|
rs2067196140
|
|
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)
|
rs2067194648
|
|
NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)
|
|
|
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)
|
rs2067193056
|
|
NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs)
|
rs2067190364
|
|
NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter)
|
rs1305342570
|
|
NM_001034853.2(RPGR):c.2138del (p.Lys713fs)
|
rs2067191635
|
|
NM_001034853.2(RPGR):c.2153del (p.Gly718fs)
|
|
|
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter)
|
rs2067191154
|
|
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs)
|
rs2067190922
|
|
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.2251A>T (p.Lys751Ter)
|
rs2067188111
|
|
NM_001034853.2(RPGR):c.2293_2297del (p.Glu765fs)
|
rs2067186762
|
|
NM_001034853.2(RPGR):c.2316del (p.Gly773fs)
|
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2409del (p.Arg804fs)
|
rs2067182990
|
|
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)
|
rs2067182354
|
|
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
|
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001034853.2(RPGR):c.2447del (p.Gly816fs)
|
rs1854473658
|
|
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)
|
rs2067179538
|
|
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs)
|
rs2067176160
|
|
NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs)
|
rs2067175855
|
|
NM_001034853.2(RPGR):c.2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter)
|
rs2067169164
|
|
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.28+5G>A
|
rs62638626
|
|
NM_001034853.2(RPGR):c.2839del (p.Glu947fs)
|
rs1555961509
|
|
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs)
|
rs1569235999
|
|
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs)
|
rs2067136586
|
|
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
|
rs1601917999
|
|
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter)
|
rs866524368
|
|
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del)
|
rs748582313
|
|
NM_001034853.2(RPGR):c.3190G>T (p.Glu1064Ter)
|
rs2067117239
|
|
NM_001034853.2(RPGR):c.327dup (p.Ala110fs)
|
rs2067878443
|
|
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs)
|
rs2067114709
|
|
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp)
|
rs2067878321
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
NM_001034853.2(RPGR):c.382_383del (p.Asn128fs)
|
rs2067877357
|
|
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)
|
rs369037463
|
|
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)
|
rs796065331
|
|
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter)
|
rs878853374
|
|
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg)
|
rs62642057
|
|
NM_001042432.2(CLN3):c.533+1G>A
|
rs386833728
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001042472.3(ABHD12):c.1036dup (p.Ser346fs)
|
rs2088652401
|
|
NM_001042472.3(ABHD12):c.400G>T (p.Glu134Ter)
|
rs2089115544
|
|
NM_001042472.3(ABHD12):c.620-2A>G
|
rs1555811525
|
|
NM_001077182.3(FSCN2):c.827-1delG
|
|
|
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)
|
rs527236092
|
|
NM_001122769.3(LCA5):c.1460_1461del (p.Pro487fs)
|
rs1769707298
|
|
NM_001122769.3(LCA5):c.1794del (p.Glu599fs)
|
rs1769692830
|
|
NM_001122769.3(LCA5):c.190+1G>A
|
rs746351112
|
|
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs)
|
rs878853382
|
|
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter)
|
rs781198326
|
|
NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs)
|
rs1784887448
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.703dup (p.Arg235fs)
|
rs1336317768
|
|
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
|
|
|
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
|
|
|
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter)
|
rs1766556883
|
|
NM_001142800.2(EYS):c.116_117del (p.Tyr39fs)
|
|
|
NM_001142800.2(EYS):c.1207A>T (p.Lys403Ter)
|
rs1765728504
|
|
NM_001142800.2(EYS):c.1211del (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1222del (p.Ala408fs)
|
rs1765727233
|
|
NM_001142800.2(EYS):c.1485G>C (p.Gly495=)
|
|
|
NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs)
|
rs1768657480
|
|
NM_001142800.2(EYS):c.1871C>A (p.Ser624Ter)
|
rs548565748
|
|
NM_001142800.2(EYS):c.216del (p.Ala73fs)
|
rs1459031771
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2359del (p.Thr787fs)
|
|
|
NM_001142800.2(EYS):c.2381+1G>A
|
rs1769267226
|
|
NM_001142800.2(EYS):c.2399G>T (p.Gly800Val)
|
|
|
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)
|
rs1767699695
|
|
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)
|
rs1554214453
|
|
NM_001142800.2(EYS):c.3227_3243+1del
|
|
|
NM_001142800.2(EYS):c.3349del (p.Ser1117fs)
|
|
|
NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter)
|
rs1767601715
|
|
NM_001142800.2(EYS):c.3568+1G>A
|
rs1767600988
|
|
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs)
|
rs1767312015
|
|
NM_001142800.2(EYS):c.3595G>T (p.Glu1199Ter)
|
|
|
NM_001142800.2(EYS):c.3684G>C (p.Met1228Ile)
|
|
|
NM_001142800.2(EYS):c.3736_3737del (p.Leu1246fs)
|
|
|
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs)
|
rs2149832523
|
|
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)
|
rs750840208
|
|
NM_001142800.2(EYS):c.4518del (p.Ile1507fs)
|
rs1766404452
|
|
NM_001142800.2(EYS):c.4859C>G (p.Ser1620Ter)
|
|
|
NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs)
|
rs1766383947
|
|
NM_001142800.2(EYS):c.5157dup (p.Glu1720fs)
|
|
|
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)
|
rs1554183440
|
|
NM_001142800.2(EYS):c.5836-1G>C
|
rs2150463984
|
|
NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter)
|
rs1774743530
|
|
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
|
rs878853350
|
|
NM_001142800.2(EYS):c.6191+2T>C
|
rs1769469813
|
|
NM_001142800.2(EYS):c.6726-2973_6834+548del
|
|
|
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
|
rs1770904723
|
|
NM_001142800.2(EYS):c.749-1G>C
|
rs368159852
|
|
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
|
rs1431427428
|
|
NM_001142800.2(EYS):c.7807G>T (p.Gly2603Ter)
|
|
|
NM_001142800.2(EYS):c.7836_7837del (p.Pro2613fs)
|
|
|
NM_001142800.2(EYS):c.786dup (p.His263fs)
|
rs1766009155
|
|
NM_001142800.2(EYS):c.7902dup (p.Asn2635fs)
|
|
|
NM_001142800.2(EYS):c.803del (p.Gly268fs)
|
rs1766006937
|
|
NM_001142800.2(EYS):c.8233+1G>C
|
rs1768621810
|
|
NM_001142800.2(EYS):c.8236G>C (p.Asp2746His)
|
|
|
NM_001142800.2(EYS):c.8278C>T (p.Arg2760Cys)
|
rs1384884334
|
|
NM_001142800.2(EYS):c.8522_8525del (p.Pro2841fs)
|
rs1768389030
|
|
NM_001142800.2(EYS):c.8687del (p.Thr2896fs)
|
|
|
NM_001142800.2(EYS):c.8868del (p.Ala2957fs)
|
rs2149624477
|
|
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)
|
rs1165454778
|
|
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)
|
rs886044149
|
|
NM_001142800.2(EYS):c.9261dup (p.Gly3088fs)
|
rs1768346880
|
|
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)
|
rs869312188
|
|
NM_001142800.2(EYS):c.9432A>G (p.Thr3144=)
|
|
|
NM_001164665.2(KIAA1549):c.1796_1797del (p.Glu599fs)
|
|
|
NM_001164665.2(KIAA1549):c.2132C>T (p.Pro711Leu)
|
|
|
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter)
|
rs761440783
|
|
NM_001201543.2(FAM161A):c.804G>A (p.Ala268=)
|
rs765487110
|
|
NM_001242957.3(MAK):c.1223A>T (p.Glu408Val)
|
|
|
NM_001242957.3(MAK):c.156+2T>C
|
rs1201940872
|
|
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs)
|
rs1347914291
|
|
NM_001242957.3(MAK):c.368A>G (p.His123Arg)
|
|
|
NM_001242957.3(MAK):c.97A>C (p.Lys33Gln)
|
|
|
NM_001252024.2(TRPM1):c.415_422delinsC (p.Lys139fs)
|
rs2034427266
|
|
NM_001256789.3(CACNA1F):c.1159dup (p.Asp387fs)
|
rs2065833777
|
|
NM_001256789.3(CACNA1F):c.1183C>T (p.Gln395Ter)
|
rs2065833366
|
|
NM_001256789.3(CACNA1F):c.2544-2A>T
|
rs2065753439
|
|
NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter)
|
rs2065740868
|
|
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)
|
rs2065717735
|
|
NM_001256789.3(CACNA1F):c.3406G>T (p.Glu1136Ter)
|
rs2065701414
|
|
NM_001256789.3(CACNA1F):c.4490T>C (p.Leu1497Pro)
|
rs2065644808
|
|
NM_001278293.3(ARL6):c.349+2T>C
|
|
|
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg)
|
rs111033578
|
|
NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser)
|
rs1555036138
|
|
NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp)
|
rs906525288
|
|
NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter)
|
rs1468272829
|
|
NM_001297.5(CNGB1):c.1958-1G>A
|
rs888090139
|
|
NM_001297.5(CNGB1):c.1976_1980dup (p.Phe661fs)
|
|
|
NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter)
|
rs1960899756
|
|
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter)
|
rs1210263161
|
|
NM_001297.5(CNGB1):c.2225del (p.Leu742fs)
|
|
|
NM_001297.5(CNGB1):c.2256T>C (p.Tyr752=)
|
|
|
NM_001297.5(CNGB1):c.2542_2543insA (p.Gly848fs)
|
|
|
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)
|
rs760430056
|
|
NM_001297.5(CNGB1):c.257G>C (p.Arg86Pro)
|
|
|
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter)
|
rs878853394
|
|
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)
|
rs1365926616
|
|
NM_001297.5(CNGB1):c.3307del (p.Ala1103fs)
|
|
|
NM_001297.5(CNGB1):c.622C>T (p.Gln208Ter)
|
|
|
NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del
|
|
|
NM_001298.3(CNGA3):c.1271T>C (p.Met424Thr)
|
rs1692915919
|
|
NM_001298.3(CNGA3):c.1580T>C (p.Leu527Pro)
|
rs779023431
|
|
NM_001298.3(CNGA3):c.1611G>A (p.Gln537=)
|
rs1692928194
|
|
NM_001298.3(CNGA3):c.1686C>A (p.Asn562Lys)
|
rs1692930941
|
|
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter)
|
rs1692508715
|
|
NM_001298.3(CNGA3):c.787T>G (p.Tyr263Asp)
|
rs943314733
|
|
NM_001319074.4(RAX2):c.155C>G (p.Pro52Arg)
|
rs76076446
|
|
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter)
|
rs398124431
|
|
NM_001319074.4(RAX2):c.465_475del (p.Ala156fs)
|
rs886041039
|
|
NM_001330691.3(CEP78):c.211del (p.Val71fs)
|
rs1363491382
|
|
NM_001330691.3(CEP78):c.254-1G>T
|
rs1826145876
|
|
NM_001330691.3(CEP78):c.778+1G>A
|
rs1826338661
|
|
NM_001349884.2(DRAM2):c.340-2A>G
|
rs1292874452
|
|
NM_001354768.3(NRL):c.149C>T (p.Ser50Leu)
|
rs2036353932
|
|
NM_001354768.3(NRL):c.152C>T (p.Pro51Leu)
|
rs2036353653
|
|
NM_001354768.3(NRL):c.371A>C (p.Gln124Pro)
|
|
|
NM_001354768.3(NRL):c.516C>A (p.Tyr172Ter)
|
rs768178406
|
|
NM_001354768.3(NRL):c.604C>A (p.Arg202=)
|
|
|
NM_001354768.3(NRL):c.74G>A (p.Arg25Gln)
|
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
NM_001371596.2(MFSD8):c.831dup (p.Val278fs)
|
rs775699005
|
|
NM_001377295.2(GNAT2):c.591-1G>C
|
rs1649583816
|
|
NM_001377295.2(GNAT2):c.720+2T>C
|
rs1557918544
|
|
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
NM_001378454.1(ALMS1):c.2955_2956insCTATTCTGGACTG (p.Gly986fs)
|
rs1553403585
|
|
NM_001378454.1(ALMS1):c.4498_4499del (p.Leu1500fs)
|
rs1671925979
|
|
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
|
rs748709116
|
|
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)
|
rs1553409710
|
|
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
|
rs1270472063
|
|
NM_001378454.1(ALMS1):c.8811T>G (p.Tyr2937Ter)
|
rs541559170
|
|
NM_001378454.1(ALMS1):c.9084T>A (p.Cys3028Ter)
|
rs1672973685
|
|
NM_001378477.3(NYX):c.603_746del (p.Ser205_Arg252del)
|
rs2064376489
|
|
NM_001378477.3(NYX):c.811_833del (p.Asp271fs)
|
rs2064378728
|
|
NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro)
|
rs748126956
|
|
NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs)
|
rs772867912
|
|
NM_001379270.1(CNGA1):c.1429del (p.Ala477fs)
|
|
|
NM_001379270.1(CNGA1):c.1435T>C (p.Cys479Arg)
|
rs1738698692
|
|
NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs)
|
rs768694789
|
|
NM_001379500.1(COL18A1):c.1248+1G>A
|
rs2035758739
|
|
NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter)
|
rs1555870809
|
|
NM_001379500.1(COL18A1):c.2673del (p.Gly892fs)
|
rs749009747
|
|
NM_001379500.1(COL18A1):c.688dup (p.Gln230fs)
|
rs756223600
|
|
NM_001384140.1(PCDH15):c.3501+1G>A
|
rs1402893508
|
|
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly)
|
rs1768016995
|
|
NM_001384910.1(GUCA1A):c.332A>C (p.Glu111Ala)
|
rs1554186385
|
|
NM_001384910.1(GUCA1A):c.428delinsACAC (p.Ile143delinsAsnThr)
|
rs1554186463
|
|
NM_001563.4(IMPG1):c.1824+1G>T
|
|
|
NM_001563.4(IMPG1):c.262C>T (p.Gln88Ter)
|
rs986664547
|
|
NM_001563.4(IMPG1):c.307C>T (p.Gln103Ter)
|
|
|
NM_001563.4(IMPG1):c.713T>C (p.Leu238Pro)
|
rs713993045
|
|
NM_001844.5(COL2A1):c.1221+1G>A
|
rs1399741348
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001844.5(COL2A1):c.2193_2193+1inv
|
|
|
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu)
|
rs1554085478
|
|
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)
|
rs2098614719
|
|
NM_002335.4(LRP5):c.4189_4192del (p.Leu1397fs)
|
rs2098676296
|
|
NM_002335.4(LRP5):c.4452del (p.Ser1484fs)
|
rs2098677212
|
|
NM_002497.4(NEK2):c.1010G>C (p.Arg337Pro)
|
|
|
NM_002497.4(NEK2):c.1027G>A (p.Asp343Asn)
|
|
|
NM_002497.4(NEK2):c.1270del (p.Ala424fs)
|
|
|
NM_002497.4(NEK2):c.534C>T (p.Gly178=)
|
|
|
NM_002497.4(NEK2):c.618_624del (p.Glu208fs)
|
|
|
NM_002500.5(NEUROD1):c.764C>T (p.Pro255Leu)
|
|
|
NM_002764.4(PRPS1):c.47C>T (p.Ser16Phe)
|
rs1556297584
|
|
NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp)
|
rs1556300610
|
|
NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)
|
rs1556300621
|
|
NM_002764.4(PRPS1):c.827C>T (p.Pro276Leu)
|
rs1925733148
|
|
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser)
|
rs782469310
|
|
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys)
|
rs782215106
|
|
NM_002900.3(RBP3):c.2971_2973del (p.Met991del)
|
|
|
NM_002900.3(RBP3):c.3087C>T (p.Ile1029=)
|
|
|
NM_002900.3(RBP3):c.3459G>C (p.Glu1153Asp)
|
|
|
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys)
|
rs200769197
|
|
NM_003322.6(TULP1):c.1255C>T (p.Arg419Trp)
|
rs775334320
|
|
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)
|
rs121909074
|
|
NM_003322.6(TULP1):c.246_247del (p.Pro84fs)
|
rs1305999116
|
|
NM_003322.6(TULP1):c.369G>C (p.Glu123Asp)
|
|
|
NM_003322.6(TULP1):c.821del (p.Lys274fs)
|
rs774204108
|
|
NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del
|
|
|
NM_004183.4(BEST1):c.1100+1_1100+10del
|
rs1941898895
|
|
NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter)
|
rs1942208203
|
|
NM_004183.4(BEST1):c.169G>T (p.Glu57Ter)
|
rs1382219910
|
|
NM_004183.4(BEST1):c.16A>G (p.Thr6Ala)
|
rs28940275
|
|
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)
|
rs281865221
|
|
NM_004183.4(BEST1):c.241G>A (p.Val81Met)
|
rs1555098634
|
|
NM_004183.4(BEST1):c.248-2A>G
|
rs1941247515
|
|
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg)
|
rs281865244
|
|
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)
|
rs281865269
|
|
NM_004385.5(VCAN):c.1720del (p.Asp574fs)
|
rs1746018557
|
|
NM_004523.4(KIF11):c.1134T>G (p.Tyr378Ter)
|
rs1844615558
|
|
NM_004523.4(KIF11):c.2434_2438del (p.Ser812fs)
|
rs1844909478
|
|
NM_004523.4(KIF11):c.2729dup (p.Asn910fs)
|
rs1844944116
|
|
NM_004525.3(LRP2):c.4733G>C (p.Arg1578Pro)
|
rs111733491
|
|
NM_004525.3(LRP2):c.9733G>T (p.Asp3245Tyr)
|
rs759025536
|
|
NM_004698.4(PRPF3):c.1345C>G (p.Arg449Gly)
|
rs1657981991
|
|
NM_004698.4(PRPF3):c.1532A>C (p.His511Pro)
|
rs1658082808
|
|
NM_004727.3(SLC24A1):c.1132_1133del (p.Ser378fs)
|
rs1566947860
|
|
NM_004727.3(SLC24A1):c.481C>T (p.Gln161Ter)
|
rs200047855
|
|
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter)
|
rs878853351
|
|
NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro)
|
rs567435284
|
|
NM_004928.3(CFAP410):c.96+1G>T
|
rs752137434
|
|
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)
|
rs1587620892
|
|
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter)
|
rs869312183
|
|
NM_005802.5(TOPORS):c.2587dup (p.Arg863fs)
|
rs1821068883
|
|
NM_005802.5(TOPORS):c.961A>G (p.Ile321Val)
|
rs2118968698
|
|
NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del
|
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006017.3(PROM1):c.1151G>A (p.Arg384Lys)
|
|
|
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs)
|
rs746174328
|
|
NM_006017.3(PROM1):c.1682+1G>T
|
rs1722845773
|
|
NM_006017.3(PROM1):c.1697del (p.Asn566fs)
|
rs762078182
|
|
NM_006017.3(PROM1):c.2131-1G>A
|
rs1577845276
|
|
NM_006017.3(PROM1):c.2309del (p.Pro770fs)
|
rs878853400
|
|
NM_006017.3(PROM1):c.2373G>T (p.Leu791Phe)
|
rs1718726537
|
|
NM_006017.3(PROM1):c.630+2T>A
|
rs1578097528
|
|
NM_006017.3(PROM1):c.77_78del (p.Thr26fs)
|
rs1743846367
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
NM_006204.4(PDE6C):c.1083_1086dup (p.Asn363fs)
|
rs1403661741
|
|
NM_006204.4(PDE6C):c.1250A>G (p.His417Arg)
|
rs746820022
|
|
NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer)
|
rs1236291370
|
|
NM_006204.4(PDE6C):c.251T>C (p.Leu84Pro)
|
rs2058399145
|
|
NM_006204.4(PDE6C):c.481-1G>A
|
rs2058440863
|
|
NM_006214.4(PHYH):c.517C>A (p.Pro173Thr)
|
rs1835617888
|
|
NM_006269.2(RP1):c.1001dup (p.Met335fs)
|
|
|
NM_006269.2(RP1):c.1047G>A (p.Trp349Ter)
|
rs1805986090
|
|
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)
|
rs1563329888
|
|
NM_006269.2(RP1):c.1462del (p.Glu488fs)
|
rs878853327
|
|
NM_006269.2(RP1):c.1598_1601del (p.Arg533fs)
|
rs878853329
|
|
NM_006269.2(RP1):c.1721C>G (p.Ser574Ter)
|
rs1806020324
|
|
NM_006269.2(RP1):c.1981G>T (p.Glu661Ter)
|
|
|
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)
|
rs878853328
|
|
NM_006269.2(RP1):c.2065C>T (p.Gln689Ter)
|
|
|
NM_006269.2(RP1):c.2185G>T (p.Glu729Ter)
|
|
|
NM_006269.2(RP1):c.2219C>A (p.Ser740Ter)
|
rs1554519555
|
|
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)
|
rs1554519555
|
|
NM_006269.2(RP1):c.2232T>A (p.Cys744Ter)
|
rs1806037949
|
|
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter)
|
rs1488237523
|
|
NM_006269.2(RP1):c.2336_2337del (p.Lys778_Ser779insTer)
|
|
|
NM_006269.2(RP1):c.2360T>A (p.Leu787Ter)
|
rs1806043158
|
|
NM_006269.2(RP1):c.2377A>G (p.Arg793Gly)
|
|
|
NM_006269.2(RP1):c.2430C>A (p.Cys810Ter)
|
rs1230883512
|
|
NM_006269.2(RP1):c.2560del (p.Ser854fs)
|
|
|
NM_006269.2(RP1):c.2592_2596del (p.Thr865fs)
|
|
|
NM_006269.2(RP1):c.2597del (p.Thr865_Leu866insTer)
|
|
|
NM_006269.2(RP1):c.2599A>T (p.Lys867Ter)
|
|
|
NM_006269.2(RP1):c.2613dup (p.Arg872fs)
|
rs1449723475
|
|
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)
|
rs1554519651
|
|
NM_006269.2(RP1):c.2671del (p.Arg891fs)
|
rs1806057300
|
|
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)
|
rs878853326
|
|
NM_006269.2(RP1):c.2756G>A (p.Trp919Ter)
|
rs779290365
|
|
NM_006269.2(RP1):c.2757G>A (p.Trp919Ter)
|
rs746396730
|
|
NM_006269.2(RP1):c.2999del (p.Gly1000fs)
|
|
|
NM_006269.2(RP1):c.3150dup (p.Leu1051fs)
|
rs1806079331
|
|
NM_006269.2(RP1):c.3171C>A (p.Asn1057Lys)
|
|
|
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu)
|
rs939932729
|
|
NM_006269.2(RP1):c.3669C>A (p.Cys1223Ter)
|
|
|
NM_006269.2(RP1):c.3827_3837del (p.Pro1276fs)
|
|
|
NM_006269.2(RP1):c.4089_4092del (p.Arg1364fs)
|
|
|
NM_006269.2(RP1):c.4196del (p.Cys1399fs)
|
rs762951570
|
|
NM_006269.2(RP1):c.4327C>T (p.Arg1443Trp)
|
rs373109791
|
|
NM_006269.2(RP1):c.458del (p.Pro153fs)
|
|
|
NM_006269.2(RP1):c.4957_4984del (p.Lys1653fs)
|
rs1806160527
|
|
NM_006269.2(RP1):c.5017del (p.Tyr1673fs)
|
rs753090404
|
|
NM_006269.2(RP1):c.5502G>A (p.Leu1834=)
|
|
|
NM_006269.2(RP1):c.668del (p.Gly223fs)
|
rs1231321479
|
|
NM_006269.2(RP1):c.742C>T (p.Gln248Ter)
|
rs769156393
|
|
NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del
|
|
|
NM_006343.3(MERTK):c.1296+2dup
|
rs1681147109
|
|
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)
|
rs775776288
|
|
NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly)
|
rs541717028
|
|
NM_006343.3(MERTK):c.2189_2189+7delinsGGGGA
|
rs1677289241
|
|
NM_006343.3(MERTK):c.368_369del (p.Tyr123fs)
|
rs1684627892
|
|
NM_006343.3(MERTK):c.604C>T (p.Gln202Ter)
|
rs1684979540
|
|
NM_006343.3(MERTK):c.933_935delinsTT (p.Pro313fs)
|
rs878853355
|
|
NM_006445.4(PRPF8):c.3613G>A (p.Glu1205Lys)
|
|
|
NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs)
|
rs878853387
|
|
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met)
|
rs1911391944
|
|
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)
|
rs1555550617
|
|
NM_006445.4(PRPF8):c.5986_5987+2del
|
|
|
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)
|
rs1911196248
|
|
NM_006445.4(PRPF8):c.6449A>G (p.Gln2150Arg)
|
rs1911081749
|
|
NM_006445.4(PRPF8):c.6778C>T (p.Gln2260Ter)
|
|
|
NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser)
|
rs121434239
|
|
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)
|
rs752997229
|
|
NM_006445.4(PRPF8):c.6961C>T (p.Gln2321Ter)
|
|
|
NM_006445.4(PRPF8):c.957G>T (p.Leu319Phe)
|
|
|
NM_006915.3(RP2):c.122_128delinsGGA (p.Met41fs)
|
rs1924895234
|
|
NM_006915.3(RP2):c.168_178del (p.Val57fs)
|
rs1924896735
|
|
NM_006915.3(RP2):c.178C>T (p.Gln60Ter)
|
rs1924897230
|
|
NM_006915.3(RP2):c.28A>T (p.Lys10Ter)
|
|
|
NM_006915.3(RP2):c.296dup (p.Ser99fs)
|
|
|
NM_006915.3(RP2):c.324C>A (p.Cys108Ter)
|
rs1924901288
|
|
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)
|
rs1556318633
|
|
NM_006915.3(RP2):c.353G>A (p.Arg118His)
|
rs28933687
|
|
NM_006915.3(RP2):c.37A>T (p.Lys13Ter)
|
rs1924521211
|
|
NM_006915.3(RP2):c.381del (p.Leu129fs)
|
|
|
NM_006915.3(RP2):c.507del (p.Asn169fs)
|
rs878853381
|
|
NM_006915.3(RP2):c.677del (p.Gly226fs)
|
|
|
NM_006915.3(RP2):c.768+1G>C
|
rs1924915809
|
|
NM_006915.3(RP2):c.774_777del (p.Gly259fs)
|
rs1925035229
|
|
NM_006915.3(RP2):c.801_804del (p.Glu269fs)
|
|
|
NM_006915.3(RP2):c.87G>A (p.Trp29Ter)
|
rs2147074689
|
|
NM_006944.3(SPP2):c.278G>A (p.Arg93Lys)
|
rs2125455747
|
|
NM_006944.3(SPP2):c.49_52dup (p.Phe18fs)
|
|
|
NM_012418.4(FSCN2):c.1415G>C (p.Gly472Ala)
|
|
|
NM_012418.4(FSCN2):c.22C>T (p.Gln8Ter)
|
|
|
NM_012469.4(PRPF6):c.*1T>C
|
rs1167495795
|
|
NM_012469.4(PRPF6):c.1629G>A (p.Trp543Ter)
|
|
|
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp)
|
rs369787039
|
|
NM_014003.4(DHX38):c.1879T>A (p.Tyr627Asn)
|
|
|
NM_014003.4(DHX38):c.2258T>C (p.Ile753Thr)
|
rs760947148
|
|
NM_014003.4(DHX38):c.601C>T (p.Arg201Ter)
|
|
|
NM_014014.5(SNRNP200):c.1249dup (p.Thr417fs)
|
|
|
NM_014014.5(SNRNP200):c.1625C>T (p.Ala542Val)
|
rs2063918440
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)
|
rs527236113
|
|
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser)
|
rs2063893838
|
|
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys)
|
rs556400279
|
|
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr)
|
rs2063883437
|
|
NM_014014.5(SNRNP200):c.2800A>C (p.Thr934Pro)
|
|
|
NM_014014.5(SNRNP200):c.5096del (p.Glu1699fs)
|
|
|
NM_014053.4(FLVCR1):c.539del (p.Gly180fs)
|
rs1216093309
|
|
NM_014249.4(NR2E3):c.1199T>A (p.Met400Lys)
|
rs2054237722
|
|
NM_014249.4(NR2E3):c.166G>C (p.Gly56Arg)
|
rs121912631
|
|
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys)
|
rs775720634
|
|
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter)
|
rs1257334132
|
|
NM_014249.4(NR2E3):c.748-1G>A
|
rs2054201689
|
|
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)
|
rs377257254
|
|
NM_014714.4(IFT140):c.1250_1271dup (p.Ser425fs)
|
rs2034747055
|
|
NM_014714.4(IFT140):c.1359+1G>A
|
rs2034739931
|
|
NM_014714.4(IFT140):c.1390G>T (p.Val464Leu)
|
rs2034681207
|
|
NM_014714.4(IFT140):c.1525-2_1525-1del
|
|
|
NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs)
|
rs2033706353
|
|
NM_014714.4(IFT140):c.217_218del (p.Arg73fs)
|
rs2035847573
|
|
NM_014714.4(IFT140):c.2654G>A (p.Trp885Ter)
|
|
|
NM_014714.4(IFT140):c.2655del (p.Trp885fs)
|
rs762111572
|
|
NM_014714.4(IFT140):c.2767_2768+2del
|
rs769075694
|
|
NM_014714.4(IFT140):c.2772C>G (p.Tyr924Ter)
|
|
|
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys)
|
rs759898401
|
|
NM_014714.4(IFT140):c.3014_3021del (p.Asn1005fs)
|
|
|
NM_014714.4(IFT140):c.3271-2A>C
|
|
|
NM_014714.4(IFT140):c.4078dup (p.Cys1360fs)
|
|
|
NM_014956.5(CEP164):c.470del (p.Pro157fs)
|
rs2041025786
|
|
NM_015047.3(EMC1):c.793G>A (p.Asp265Asn)
|
rs1439129239
|
|
NM_015047.3(EMC1):c.948C>T (p.Phe316=)
|
|
|
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter)
|
rs745934202
|
|
NM_015102.5(NPHP4):c.3644+1G>A
|
rs756111113
|
|
NM_015629.4(PRPF31):c.1033dup (p.Ala345fs)
|
|
|
NM_015629.4(PRPF31):c.1040del (p.Leu347fs)
|
rs2073964314
|
|
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter)
|
rs1342475527
|
|
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)
|
rs868538598
|
|
NM_015629.4(PRPF31):c.1073+1G>A
|
rs794727001
|
|
NM_015629.4(PRPF31):c.1107_1113dup (p.Arg372fs)
|
rs2073970450
|
|
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)
|
rs869312187
|
|
NM_015629.4(PRPF31):c.1146+1G>A
|
rs2073971858
|
|
NM_015629.4(PRPF31):c.1154_1155insAG (p.Asp386fs)
|
|
|
NM_015629.4(PRPF31):c.118C>T (p.Gln40Ter)
|
|
|
NM_015629.4(PRPF31):c.1231_1232del (p.Gln411fs)
|
|
|
NM_015629.4(PRPF31):c.1406dup (p.Lys470fs)
|
rs2074043162
|
|
NM_015629.4(PRPF31):c.183dup (p.Glu62Ter)
|
rs2073708846
|
|
NM_015629.4(PRPF31):c.195del (p.Met65fs)
|
rs2073709089
|
|
NM_015629.4(PRPF31):c.239-1G>A
|
rs2073798309
|
|
NM_015629.4(PRPF31):c.239-1G>T
|
rs2073798309
|
|
NM_015629.4(PRPF31):c.265G>T (p.Glu89Ter)
|
|
|
NM_015629.4(PRPF31):c.304G>T (p.Glu102Ter)
|
|
|
NM_015629.4(PRPF31):c.310G>T (p.Glu104Ter)
|
|
|
NM_015629.4(PRPF31):c.323-1G>C
|
rs2146413215
|
|
NM_015629.4(PRPF31):c.358_361del (p.Lys120fs)
|
rs2073817965
|
|
NM_015629.4(PRPF31):c.359del (p.Lys120fs)
|
rs1555792415
|
|
NM_015629.4(PRPF31):c.400del (p.Asp134fs)
|
rs878853331
|
|
NM_015629.4(PRPF31):c.421-2A>C
|
rs1600340117
|
|
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)
|
rs764232082
|
|
NM_015629.4(PRPF31):c.605dup (p.His202fs)
|
rs2073854068
|
|
NM_015629.4(PRPF31):c.682GCC[1] (p.Ala229del)
|
rs2073856361
|
|
NM_015629.4(PRPF31):c.698-1G>C
|
rs2073871791
|
|
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs)
|
rs2073701307
|
|
NM_015629.4(PRPF31):c.748del (p.Met250fs)
|
rs2073873693
|
|
NM_015629.4(PRPF31):c.808dup (p.His270fs)
|
rs2073875313
|
|
NM_015629.4(PRPF31):c.815G>T (p.Gly272Val)
|
rs1555793203
|
|
NM_015629.4(PRPF31):c.854del (p.Pro285fs)
|
rs2073876392
|
|
NM_015629.4(PRPF31):c.912_914dup (p.Val305dup)
|
rs2073927586
|
|
NM_015629.4(PRPF31):c.946-2A>G
|
rs2073961843
|
|
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter)
|
rs878853335
|
|
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter)
|
rs878853334
|
|
NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)
|
|
|
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter)
|
rs1366937730
|
|
NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter)
|
rs1706474422
|
|
NM_016247.4(IMPG2):c.1328_1335del (p.Ser443fs)
|
rs1706473340
|
|
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs)
|
rs1559643320
|
|
NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter)
|
rs1472199114
|
|
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer)
|
rs878853358
|
|
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter)
|
rs1706439944
|
|
NM_016247.4(IMPG2):c.2867dup (p.Asn956fs)
|
rs771246451
|
|
NM_016247.4(IMPG2):c.2973C>A (p.Tyr991Ter)
|
rs1706423758
|
|
NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer)
|
rs1706423076
|
|
NM_016247.4(IMPG2):c.3008_3009del (p.Leu1003fs)
|
rs1706422873
|
|
NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe)
|
rs1706305751
|
|
NM_016247.4(IMPG2):c.324dup (p.Lys109Ter)
|
|
|
NM_016247.4(IMPG2):c.3603_3604del (p.Gln1201fs)
|
|
|
NM_016247.4(IMPG2):c.572C>G (p.Ser191Ter)
|
rs1706843510
|
|
NM_016247.4(IMPG2):c.68dup (p.Asp23fs)
|
rs768660614
|
|
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro)
|
rs1706811719
|
|
NM_016247.4(IMPG2):c.854dup (p.Gly286fs)
|
rs1706755871
|
|
NM_016247.4(IMPG2):c.89_92del (p.Gln30fs)
|
|
|
NM_016247.4(IMPG2):c.922del (p.Tyr308fs)
|
rs1706627397
|
|
NM_017890.4(VPS13B):c.(5983+1_5984-1)_(7125+1_7126-1)dup
|
|
|
NM_017890.4(VPS13B):c.(?_-1)_(937+1_938-1)del
|
|
|
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs)
|
rs878853385
|
|
NM_018418.5(SPATA7):c.730A>G (p.Thr244Ala)
|
|
|
NM_018474.6(KIZ):c.117G>T (p.Lys39Asn)
|
|
|
NM_018474.6(KIZ):c.1395_1398dup (p.Gln467fs)
|
rs890128759
|
|
NM_018474.6(KIZ):c.62_65del (p.Gly21fs)
|
|
|
NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del
|
|
|
NM_019098.5(CNGB3):c.1197T>G (p.Tyr399Ter)
|
rs1822989898
|
|
NM_019892.6(INPP5E):c.473del (p.Gly158fs)
|
rs779450345
|
|
NM_020184.4(CNNM4):c.648dup (p.Val217fs)
|
rs2078764558
|
|
NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del
|
|
|
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)
|
rs878853392
|
|
NM_020366.4(RPGRIP1):c.1445T>A (p.Leu482Ter)
|
rs878853391
|
|
NM_020366.4(RPGRIP1):c.1773dup (p.Asp592fs)
|
rs1882854195
|
|
NM_020366.4(RPGRIP1):c.2007del (p.Val670fs)
|
rs878853390
|
|
NM_020366.4(RPGRIP1):c.2230G>T (p.Glu744Ter)
|
rs1882945917
|
|
NM_020366.4(RPGRIP1):c.2406G>A (p.Trp802Ter)
|
rs1883031542
|
|
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs)
|
rs1739469293
|
|
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)
|
rs745741473
|
|
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs)
|
rs878853389
|
|
NM_020366.4(RPGRIP1):c.3618-1_3621del
|
rs1594280740
|
|
NM_020366.4(RPGRIP1):c.673del (p.His225fs)
|
rs752263228
|
|
NM_020949.3(SLC7A14):c.1682C>T (p.Thr561Met)
|
|
|
NM_020949.3(SLC7A14):c.1778A>G (p.Gln593Arg)
|
|
|
NM_021831.6(AGBL5):c.1114del (p.Gln372fs)
|
rs1668402514
|
|
NM_021831.6(AGBL5):c.1618C>T (p.Pro540Ser)
|
|
|
NM_022124.6(CDH23):c.2060-1G>A
|
rs1865145294
|
|
NM_022124.6(CDH23):c.2132_2139del (p.Ile710_Tyr711insTer)
|
rs1865149889
|
|
NM_022124.6(CDH23):c.336+1G>T
|
rs764824311
|
|
NM_022124.6(CDH23):c.3369+1G>A
|
rs769524849
|
|
NM_022124.6(CDH23):c.3417C>A (p.Tyr1139Ter)
|
rs1866696630
|
|
NM_022124.6(CDH23):c.6050-1G>A
|
rs762805265
|
|
NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs)
|
rs1841315122
|
|
NM_022124.6(CDH23):c.6838_6841del (p.Thr2280fs)
|
rs1841460358
|
|
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
|
rs878853337
|
|
NM_022124.6(CDH23):c.849del (p.Phe284fs)
|
rs1861132418
|
|
NM_022124.6(CDH23):c.9198+2T>A
|
rs1841921374
|
|
NM_022367.4(SEMA4A):c.1122_1123dup (p.Arg375fs)
|
rs760609808
|
|
NM_022367.4(SEMA4A):c.1377G>C (p.Glu459Asp)
|
|
|
NM_022787.4(NMNAT1):c.104T>C (p.Met35Thr)
|
rs1641704371
|
|
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)
|
rs767150997
|
|
NM_024649.5(BBS1):c.1473+2T>C
|
rs1856699646
|
|
NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter)
|
rs1856787758
|
|
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)
|
rs1856790811
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.472A>G (p.Ser158Gly)
|
|
|
NM_024649.5(BBS1):c.724-8_726del
|
rs1856202628
|
|
NM_024741.3(ZNF408):c.1219C>T (p.Arg407Trp)
|
|
|
NM_024741.3(ZNF408):c.604C>T (p.Gln202Ter)
|
|
|
NM_024753.5(TTC21B):c.1320del (p.Phe440fs)
|
rs775836730
|
|
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)
|
rs774490795
|
|
NM_025114.4(CEP290):c.1894A>G (p.Lys632Glu)
|
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2124_2125insGGCTTTCA (p.Thr709fs)
|
|
|
NM_025114.4(CEP290):c.2818-2A>G
|
rs2038012556
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.3220G>T (p.Glu1074Ter)
|
rs2037229663
|
|
NM_025114.4(CEP290):c.4490C>A (p.Ser1497Ter)
|
rs1345994179
|
|
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter)
|
rs878853361
|
|
NM_025114.4(CEP290):c.5201_5202del (p.Leu1734fs)
|
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.5586+1G>C
|
rs2035880971
|
|
NM_025114.4(CEP290):c.560_561insTT (p.Ile187_Asp188insTer)
|
|
|
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)
|
rs2033943937
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs)
|
rs1555874538
|
|
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter)
|
rs1243587288
|
|
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter)
|
rs1555037395
|
|
NM_031885.5(BBS2):c.1276G>T (p.Glu426Ter)
|
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.2060-1G>T
|
rs1555520142
|
|
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)
|
rs544773389
|
|
NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs)
|
rs1307312865
|
|
NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs)
|
rs1754556067
|
|
NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs)
|
rs1755688091
|
|
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)
|
rs1758488956
|
|
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)
|
rs1764301206
|
|
NM_032119.4(ADGRV1):c.16940del (p.Val5647fs)
|
rs1364707671
|
|
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)
|
rs1185617030
|
|
NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs)
|
rs878853348
|
|
NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter)
|
rs1748947002
|
|
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)
|
rs769215629
|
|
NM_033028.5(BBS4):c.642+3A>G
|
rs2065735740
|
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225
|
|
NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly)
|
rs1554857529
|
|
NM_033100.4(CDHR1):c.1468delinsCGC (p.Ser490fs)
|
rs1842324166
|
|
NM_033100.4(CDHR1):c.2410_2485del (p.Thr804fs)
|
rs1564666557
|
|
NM_033100.4(CDHR1):c.270dup (p.Thr91fs)
|
rs878853347
|
|
NM_033100.4(CDHR1):c.790del (p.Glu264fs)
|
rs1842189258
|
|
NM_033629.6(TREX1):c.940del (p.Glu314fs)
|
|
|
NM_080680.3(COL11A2):c.3075del (p.Gly1027fs)
|
rs1770116834
|
|
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)
|
rs761460379
|
|
NM_130837.3(OPA1):c.908T>A (p.Leu303Ter)
|
rs1732788163
|
|
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
|
|
|
NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs)
|
rs1554628460
|
|
NM_133497.4(KCNV2):c.381del (p.Thr128fs)
|
rs141099767
|
|
NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs)
|
rs1819778559
|
|
NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg)
|
rs977790637
|
|
NM_133497.4(KCNV2):c.721_722delinsTA (p.Pro241Ter)
|
rs1819787095
|
|
NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly)
|
rs754275640
|
|
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs)
|
rs1819797791
|
|
NM_145200.5(CABP4):c.65del (p.Pro22fs)
|
rs775166854
|
|
NM_145200.5(CABP4):c.800-18_*795del
|
rs1554998040
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
NM_152419.3(HGSNAT):c.1542+4dup
|
rs1401818080
|
|
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
|
|
|
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)
|
rs761167763
|
|
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg)
|
rs2038196341
|
|
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)
|
rs794729650
|
|
NM_152443.3(RDH12):c.648_658+20del
|
rs878853341
|
|
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)
|
rs751589863
|
|
NM_152443.3(RDH12):c.759del (p.Phe254fs)
|
rs1594867516
|
|
NM_152443.3(RDH12):c.761_762insA (p.Phe254fs)
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)
|
rs1553941304
|
|
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)
|
rs974173261
|
|
NM_153676.4(USH1C):c.491_492del (p.Val164fs)
|
rs1850741468
|
|
NM_153676.4(USH1C):c.560del (p.Gln187fs)
|
rs1850697098
|
|
NM_170784.3(MKKS):c.1268_1272delinsC (p.His423fs)
|
rs2064852005
|
|
NM_172240.3(POC1B):c.238C>T (p.Arg80Ter)
|
rs769102771
|
|
NM_174878.3(CLRN1):c.154C>T (p.Gln52Ter)
|
rs1715594024
|
|
NM_174878.3(CLRN1):c.165del (p.Asp55fs)
|
rs1235835151
|
|
NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter)
|
rs878853379
|
|
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
|
rs878853352
|
|
NM_176824.3(BBS7):c.342-2A>G
|
rs1560664459
|
|
NM_178857.6(RP1L1):c.1288C>T (p.Gln430Ter)
|
|
|
NM_178857.6(RP1L1):c.1779G>T (p.Thr593=)
|
|
|
NM_178857.6(RP1L1):c.2053_2056del (p.Gln685fs)
|
rs1797868307
|
|
NM_178857.6(RP1L1):c.25C>T (p.Gln9Ter)
|
rs1486810062
|
|
NM_178857.6(RP1L1):c.3026_3029del (p.Ala1009fs)
|
|
|
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala)
|
rs1797825562
|
|
NM_178857.6(RP1L1):c.397G>T (p.Glu133Ter)
|
|
|
NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter)
|
rs2117226120
|
|
NM_178857.6(RP1L1):c.4483C>T (p.Pro1495Ser)
|
|
|
NM_178857.6(RP1L1):c.5154G>C (p.Thr1718=)
|
|
|
NM_178857.6(RP1L1):c.5438A>G (p.Asn1813Ser)
|
|
|
NM_178857.6(RP1L1):c.583C>T (p.Gln195Ter)
|
|
|
NM_178857.6(RP1L1):c.831del (p.Arg277fs)
|
rs1797910388
|
|
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)
|
rs878853370
|
|
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)
|
rs369775002
|
|
NM_201253.3(CRB1):c.1229G>A (p.Gly410Asp)
|
rs2125468954
|
|
NM_201253.3(CRB1):c.1253del (p.Asn418fs)
|
|
|
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)
|
rs1664290387
|
|
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)
|
rs878853364
|
|
NM_201253.3(CRB1):c.1689del (p.Ser563fs)
|
|
|
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)
|
rs773233587
|
|
NM_201253.3(CRB1):c.201_202del (p.Cys67_Asp68delinsTer)
|
rs1658656722
|
|
NM_201253.3(CRB1):c.2138C>T (p.Ala713Val)
|
rs1664643556
|
|
NM_201253.3(CRB1):c.2363T>C (p.Leu788Pro)
|
|
|
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
|
rs1433518605
|
|
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)
|
rs1664671663
|
|
NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr)
|
rs1553249226
|
|
NM_201253.3(CRB1):c.2598A>C (p.Pro866=)
|
|
|
NM_201253.3(CRB1):c.2676+1G>T
|
rs1664686689
|
|
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)
|
rs878853371
|
|
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)
|
rs62636274
|
|
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)
|
rs1558138741
|
|
NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter)
|
rs1665100409
|
|
NM_201253.3(CRB1):c.3522_3523del (p.Cys1174_Glu1175delinsTer)
|
rs1665102146
|
|
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3878+2dup
|
rs1665282720
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter)
|
rs878853369
|
|
NM_201253.3(CRB1):c.506del (p.Gly169fs)
|
rs1167867158
|
|
NM_201253.3(CRB1):c.71del (p.Asn24fs)
|
rs1654722914
|
|
NM_201253.3(CRB1):c.807dup (p.Pro270fs)
|
rs878853366
|
|
NM_201253.3(CRB1):c.84dup (p.Lys29Ter)
|
|
|
NM_201548.5(CERKL):c.1269-3C>G
|
rs1553512879
|
|
NM_201548.5(CERKL):c.1393A>G (p.Thr465Ala)
|
|
|
NM_201548.5(CERKL):c.252T>A (p.Tyr84Ter)
|
rs1685573282
|
|
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)
|
rs569826109
|
|
NM_201548.5(CERKL):c.419T>C (p.Leu140Pro)
|
rs1481841151
|
|
NM_201548.5(CERKL):c.550C>T (p.Gln184Ter)
|
rs1689011389
|
|
NM_201548.5(CERKL):c.566_569delinsGTG (p.Lys189fs)
|
rs1689010156
|
|
NM_201548.5(CERKL):c.638dup (p.Ser214fs)
|
|
|
NM_201548.5(CERKL):c.677+1G>A
|
rs1005130980
|
|
NM_201548.5(CERKL):c.896-1G>A
|
rs1687854945
|
|
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)
|
rs769632183
|
|
NM_205861.3(DHDDS):c.736C>T (p.Gln246Ter)
|
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10183-2A>G
|
rs1661818720
|
|
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)
|
rs1661687852
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.10939+1G>T
|
|
|
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
|
rs1661140054
|
|
NM_206933.4(USH2A):c.11053T>C (p.Trp3685Arg)
|
|
|
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter)
|
rs143453173
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
|
rs1660922779
|
|
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
|
rs762070900
|
|
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
NM_206933.4(USH2A):c.11895del (p.Gln3966fs)
|
rs1659887829
|
|
NM_206933.4(USH2A):c.12226C>T (p.Gln4076Ter)
|
|
|
NM_206933.4(USH2A):c.12252del (p.Leu4085fs)
|
rs1658179729
|
|
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12407C>T (p.Thr4136Ile)
|
|
|
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
|
rs1657992342
|
|
NM_206933.4(USH2A):c.12416del (p.Gly4139fs)
|
|
|
NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)
|
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.1267G>T (p.Gly423Ter)
|
|
|
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)
|
rs1057517844
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.1277dup (p.Asn426fs)
|
rs2037679829
|
|
NM_206933.4(USH2A):c.12913del (p.Met4305fs)
|
rs1657961646
|
|
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.13595_13596del (p.Pro4532fs)
|
rs1485393201
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13834dup (p.Cys4612fs)
|
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs)
|
rs1419913594
|
|
NM_206933.4(USH2A):c.14010C>A (p.Tyr4670Ter)
|
|
|
NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter)
|
rs1657799720
|
|
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
|
rs1657798642
|
|
NM_206933.4(USH2A):c.14103A>G (p.Glu4701=)
|
|
|
NM_206933.4(USH2A):c.14125dup (p.Glu4709fs)
|
rs1657796004
|
|
NM_206933.4(USH2A):c.14205del (p.Glu4736fs)
|
|
|
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter)
|
rs746837034
|
|
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
|
rs766370703
|
|
NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)
|
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.14739C>A (p.Asn4913Lys)
|
|
|
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)
|
rs34713174
|
|
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
|
rs1656646221
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs)
|
rs1656416727
|
|
NM_206933.4(USH2A):c.15192A>G (p.Gln5064=)
|
|
|
NM_206933.4(USH2A):c.1550+2T>C
|
rs2037658254
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1562A>G (p.His521Arg)
|
|
|
NM_206933.4(USH2A):c.1644+2T>A
|
rs2037617658
|
|
NM_206933.4(USH2A):c.1672del (p.Asp558fs)
|
rs2037018431
|
|
NM_206933.4(USH2A):c.1774_1792del (p.Pro592fs)
|
|
|
NM_206933.4(USH2A):c.199T>C (p.Cys67Arg)
|
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.2293del (p.Gln765fs)
|
rs2036066604
|
|
NM_206933.4(USH2A):c.2649dup (p.Pro884fs)
|
rs2036054600
|
|
NM_206933.4(USH2A):c.2661C>G (p.Tyr887Ter)
|
rs878853408
|
|
NM_206933.4(USH2A):c.2761del (p.Leu921fs)
|
rs2036051613
|
|
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs)
|
rs2035704899
|
|
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter)
|
rs758705873
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.3718del (p.Gln1240fs)
|
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
|
rs2102464166
|
|
NM_206933.4(USH2A):c.4083A>C (p.Ala1361=)
|
|
|
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter)
|
rs869312186
|
|
NM_206933.4(USH2A):c.4431_4448del (p.Ile1478_Ile1483del)
|
|
|
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs)
|
rs2032220940
|
|
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)
|
rs1558251742
|
|
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)
|
rs527236123
|
|
NM_206933.4(USH2A):c.5391_5395del (p.Asn1797fs)
|
|
|
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter)
|
|
|
NM_206933.4(USH2A):c.5857+1G>C
|
rs2031604509
|
|
NM_206933.4(USH2A):c.5865_5866del (p.Ser1956fs)
|
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6470del (p.Arg2157fs)
|
rs878853414
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
|
rs1421761057
|
|
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg)
|
rs2038568675
|
|
NM_206933.4(USH2A):c.7252C>T (p.Gln2418Ter)
|
|
|
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
|
rs1195779037
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
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NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs)
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rs1664810877
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NM_206933.4(USH2A):c.8859del (p.Gln2954fs)
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rs1663836291
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NM_206933.4(USH2A):c.9201T>A (p.Asn3067Lys)
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NM_206933.4(USH2A):c.9258+1G>T
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rs748810737
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NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
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rs1558121260
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NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
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rs1662771528
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NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
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rs1571703801
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NM_207352.4(CYP4V2):c.1090G>A (p.Gly364Arg)
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NM_207352.4(CYP4V2):c.1297T>C (p.Phe433Leu)
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NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)
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rs199476190
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NM_207352.4(CYP4V2):c.792dup (p.Thr265fs)
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rs775749608
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NM_207352.4(CYP4V2):c.873del (p.Ser292fs)
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Single allele
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