NM_005012.4(ROR1):c.1170G>T (p.Ala390=)
|
rs2762833
|
1.00000
|
NM_080680.3(COL11A2):c.1360-7A>C
|
rs3129201
|
0.99999
|
NM_004044.7(ATIC):c.1503+48A>T
|
rs10932609
|
0.99971
|
NM_004044.7(ATIC):c.147-111A>T
|
rs4672766
|
0.99970
|
NM_018418.5(SPATA7):c.913-23T>G
|
rs386579
|
0.99950
|
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile)
|
rs10902758
|
0.99926
|
NM_177398.4(LMX1A):c.1050T>C (p.Asp350=)
|
rs1354509
|
0.99887
|
NM_000064.4(C3):c.1686+78C>T
|
rs189367
|
0.99827
|
NM_004311.4(ARL3):c.-75C>T
|
rs2248679
|
0.99812
|
NM_177972.3(TUB):c.566-32C>A
|
rs7931842
|
0.99757
|
NM_177972.3(TUB):c.565+16A>G
|
rs11041739
|
0.99683
|
NM_015072.5(TTLL5):c.1709-7T>C
|
rs2359870
|
0.99609
|
NM_001379180.1(ESRRB):c.948T>C (p.Tyr316=)
|
rs2361293
|
0.99538
|
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
|
rs4784677
|
0.99534
|
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=)
|
rs2955379
|
0.99481
|
NM_015404.4(WHRN):c.2256= (p.Gln752=)
|
rs6478078
|
0.99456
|
NM_001142800.2(EYS):c.1599+96A>C
|
rs1502963
|
0.99413
|
NM_203288.2(RP9):c.314-9C>T
|
rs6462460
|
0.99344
|
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn)
|
rs526433
|
0.99235
|
NM_201548.5(CERKL):c.1506C>T (p.Asp502=)
|
rs10180793
|
0.99229
|
NM_004999.4(MYO6):c.817-21G>A
|
rs7760587
|
0.99163
|
NM_001124758.3(SPNS2):c.935+26T>C
|
rs9892232
|
0.99161
|
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
NM_001297.5(CNGB1):c.875-39C>T
|
rs152143
|
0.98924
|
NM_024915.4(GRHL2):c.-24C>G
|
rs515622
|
0.98894
|
NM_033641.4(COL4A6):c.2808T>C (p.Arg936=)
|
rs4623610
|
0.98777
|
NM_000350.3(ABCA4):c.141A>G (p.Pro47=)
|
rs4847281
|
0.98746
|
NM_000843.4(GRM6):c.1308T>C (p.Thr436=)
|
rs4701014
|
0.98353
|
NM_016356.5(DCDC2):c.426-13C>T
|
rs807703
|
0.98337
|
NM_001142966.3(GREB1L):c.3555A>G (p.Glu1185=)
|
rs4800747
|
0.98335
|
NM_001142800.2(EYS):c.1600-38G>A
|
rs1502965
|
0.98305
|
NM_001142800.2(EYS):c.1600-79A>G
|
rs1502964
|
0.98305
|
NM_003672.4(CDC14A):c.-47T>C
|
rs594529
|
0.98301
|
NM_001346022.3(USP45):c.2333A>G (p.Asn778Ser)
|
rs6570065
|
0.98245
|
NM_032180.2(FAM161A):c.-41T>C
|
rs1881616
|
0.98184
|
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=)
|
rs4672457
|
0.98181
|
NM_001201543.2(FAM161A):c.165T>G (p.Ala55=)
|
rs4270331
|
0.98177
|
NM_015404.4(WHRN):c.1091= (p.His364=)
|
rs10817610
|
0.98173
|
NM_021116.4(ADCY1):c.2718+58G>A
|
rs2461114
|
0.97889
|
NM_001384474.1(LOXHD1):c.4096-59A>G
|
rs436433
|
0.97854
|
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=)
|
rs2463730
|
0.97497
|
NM_014003.4(DHX38):c.2487+14T>C
|
rs42544
|
0.97480
|
NM_014714.4(IFT140):c.2768+184A>G
|
rs2745178
|
0.97367
|
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=)
|
rs710181
|
0.97278
|
NM_001124758.3(SPNS2):c.1443+32C>G
|
rs1076071
|
0.97077
|
NM_001191057.4(PDE1C):c.1773C>T (p.Asn591=)
|
rs1860790
|
0.96972
|
NM_001039141.3(TRIOBP):c.6324+46C>G
|
rs5756810
|
0.96820
|
NM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg)
|
rs8140958
|
0.96815
|
NM_014714.4(IFT140):c.3270+19T>C
|
rs2745176
|
0.96626
|
NM_004044.7(ATIC):c.-218A>G
|
rs78631308
|
0.96445
|
NM_177972.3(TUB):c.566-47C>G
|
rs10160258
|
0.96273
|
NM_020461.4(TUBGCP6):c.4315+20T>C
|
rs6537642
|
0.96249
|
NM_153676.4(USH1C):c.2656-260A>G
|
rs7108947
|
0.95611
|
NM_001039876.3(SYNE4):c.834G>C (p.Gln278His)
|
rs2285422
|
0.95594
|
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)
|
rs6659553
|
0.94881
|
NM_178857.6(RP1L1):c.4401G>T (p.Arg1467Ser)
|
rs4840498
|
0.94637
|
NM_033109.5(PNPT1):c.1247+29C>T
|
rs782604
|
0.93874
|
NM_172364.5(CACNA2D4):c.228-215T>C
|
rs758157
|
0.93628
|
NM_003672.4(CDC14A):c.1251-139A>G
|
rs2270692
|
0.93245
|
NM_152443.3(RDH12):c.344-115G>C
|
rs7156725
|
0.93203
|
NM_033109.5(PNPT1):c.867-47T>A
|
rs782631
|
0.92991
|
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
NM_014003.4(DHX38):c.2380-20T>C
|
rs150617
|
0.92860
|
NM_198999.3(SLC26A5):c.1986+30T>C
|
rs10273883
|
0.92836
|
NM_201253.3(CRB1):c.1410A>G (p.Leu470=)
|
rs3902057
|
0.92528
|
NM_178857.6(RP1L1):c.5837C>A (p.Ala1946Glu)
|
rs11785822
|
0.92448
|
NM_022124.6(CDH23):c.1753-43T>C
|
rs1227042
|
0.92381
|
NM_002160.4(TNC):c.1616A>G (p.Gln539Arg)
|
rs1757095
|
0.92370
|
NM_000260.4(MYO7A):c.6558+51G>T
|
rs948959
|
0.92365
|
NM_172364.5(CACNA2D4):c.843-83C>G
|
rs2906892
|
0.91687
|
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val)
|
rs10735005
|
0.91686
|
NM_172364.5(CACNA2D4):c.1351+72A>G
|
rs2429184
|
0.91685
|
NM_000274.4(OAT):c.1160-59C>T
|
rs2459217
|
0.91650
|
NM_001854.4(COL11A1):c.2295+37A>T
|
rs2622867
|
0.91369
|
NM_172364.5(CACNA2D4):c.310-106A>G
|
rs1558142
|
0.90569
|
NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=)
|
rs10063424
|
0.90200
|
NM_001358263.1(HK1):c.75+5174A>G
|
rs906220
|
0.89921
|
NM_172364.5(CACNA2D4):c.2471-27_2471-26insG
|
rs58188909
|
0.89524
|
NM_001304438.2(TMEM132E):c.-32T>C
|
rs4795938
|
0.89192
|
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)
|
rs6471482
|
0.88912
|
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg)
|
rs7764472
|
0.88862
|
NM_031220.4(PITPNM3):c.2430T>C (p.Asp810=)
|
rs11654099
|
0.88577
|
NM_000064.4(C3):c.3646+98A>G
|
rs237554
|
0.87336
|
NM_001793.6(CDH3):c.390+37T>C
|
rs2296410
|
0.87073
|
NM_001145809.2(MYH14):c.3033+11T>C
|
rs930086
|
0.86981
|
NM_000260.4(MYO7A):c.6438+50A>T
|
rs2276289
|
0.86951
|
NM_001145026.2(PTPRQ):c.1187-38T>A
|
rs7311413
|
0.86872
|
NM_000096.4(CP):c.1632A>T (p.Glu544Asp)
|
rs701753
|
0.86852
|
NM_002098.6(GUCA1B):c.-17T>C
|
rs1474867
|
0.86573
|
NM_004183.4(BEST1):c.867+327T>G
|
rs195160
|
0.86046
|
NM_144498.4(OSBPL2):c.37+23G>A
|
rs6089706
|
0.85800
|
NM_174916.3(UBR1):c.4700+12A>G
|
rs2054389
|
0.85593
|
NM_004568.6(SERPINB6):c.431-25T>C
|
rs3818276
|
0.85550
|
NM_174916.3(UBR1):c.862-18C>T
|
rs4924704
|
0.85492
|
NM_001145026.2(PTPRQ):c.2272+15_2272+16insG
|
rs56929349
|
0.85402
|
NM_001379270.1(CNGA1):c.225-33C>T
|
rs1972883
|
0.85296
|
NM_018191.4(RCBTB1):c.643C>T (p.Leu215=)
|
rs2274278
|
0.85174
|
NM_001252024.2(TRPM1):c.4-36G>A
|
rs4779817
|
0.85121
|
NM_001252024.2(TRPM1):c.68T>C (p.Met23Thr)
|
rs4779816
|
0.85041
|
NM_018191.4(RCBTB1):c.603+36T>C
|
rs2274284
|
0.84935
|
NM_001346022.3(USP45):c.378-9C>T
|
rs6934692
|
0.84824
|
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)
|
rs2064318
|
0.84569
|
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser)
|
rs2655655
|
0.84544
|
NM_001122769.3(LCA5):c.-62A>G
|
rs2803195
|
0.84542
|
NM_004568.6(SERPINB6):c.730-32G>A
|
rs318426
|
0.84542
|
NM_172364.5(CACNA2D4):c.2247-35A>G
|
rs7137876
|
0.84213
|
NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp)
|
rs10778752
|
0.84044
|
NM_174916.3(UBR1):c.2379+29G>T
|
rs3736054
|
0.83957
|
NM_003672.4(CDC14A):c.839-124T>C
|
rs560431
|
0.83947
|
NM_004183.4(BEST1):c.636+44C>T
|
rs195162
|
0.83711
|
NM_021116.4(ADCY1):c.1149-29T>C
|
rs2471231
|
0.83461
|
NM_001242957.3(MAK):c.1905T>C (p.His635=)
|
rs126405
|
0.83306
|
NM_001145809.2(MYH14):c.5788-41A>G
|
rs889002
|
0.83244
|
NM_178857.6(RP1L1):c.1791C>T (p.Gly597=)
|
rs6996950
|
0.83140
|
NM_201253.3(CRB1):c.849-35T>C
|
rs1337167
|
0.82735
|
NM_000274.4(OAT):c.648+14A>G
|
rs9422807
|
0.81973
|
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=)
|
rs807022
|
0.81877
|
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)
|
rs1676486
|
0.81716
|
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr)
|
rs807023
|
0.81454
|
NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser)
|
rs4838865
|
0.81410
|
NM_004526.4(MCM2):c.2013+10A>G
|
rs782427
|
0.81303
|
NM_001378457.1(DMXL2):c.-36A>C
|
rs6493514
|
0.81214
|
NM_018429.3(BDP1):c.6037A>C (p.Ile2013Leu)
|
rs6453014
|
0.80668
|
NM_018429.3(BDP1):c.4039G>A (p.Val1347Met)
|
rs6886336
|
0.80644
|
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=)
|
rs348867
|
0.80304
|
NM_000188.3(HK1):c.1443G>A (p.Lys481=)
|
rs748235
|
0.80224
|
NM_000064.4(C3):c.4546+58A>G
|
rs344555
|
0.80027
|
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)
|
rs1227065
|
0.79969
|
NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn)
|
rs2241493
|
0.79957
|
NM_003816.3(ADAM9):c.1303-47C>A
|
rs9643905
|
0.79676
|
NM_177972.3(TUB):c.397+26C>G
|
rs7396690
|
0.79455
|
NM_002160.4(TNC):c.2951-43T>C
|
rs2210108
|
0.79228
|
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)
|
rs854777
|
0.79149
|
NM_005012.4(ROR1):c.180C>T (p.Leu60=)
|
rs1772626
|
0.79112
|
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=)
|
rs854800
|
0.78890
|
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)
|
rs2229785
|
0.78559
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
NM_001145809.2(MYH14):c.5678+12C>T
|
rs3826772
|
0.78229
|
NM_172364.5(CACNA2D4):c.2342+92G>T
|
rs7138458
|
0.78150
|
NM_001252024.2(TRPM1):c.2406T>C (p.Asn802=)
|
rs2288242
|
0.78132
|
NM_022124.6(CDH23):c.4206+131T>C
|
rs1227061
|
0.77987
|
NM_022124.6(CDH23):c.4206+61T>A
|
rs1227062
|
0.77967
|
NM_080680.3(COL11A2):c.3150+15A>C
|
rs2855436
|
0.77853
|
NM_080680.3(COL11A2):c.2484+22C>G
|
rs2744512
|
0.77793
|
NM_001297.5(CNGB1):c.2635-10C>T
|
rs437920
|
0.77649
|
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)
|
rs434102
|
0.77412
|
NM_018429.3(BDP1):c.3792C>G (p.Ile1264Met)
|
rs715747
|
0.77391
|
NM_002473.6(MYH9):c.1728+10G>A
|
rs2413396
|
0.77118
|
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)
|
rs624851
|
0.77065
|
NM_001292063.2(OTOG):c.4087G>C (p.Ala1363Pro)
|
rs7934079
|
0.76845
|
NM_000064.4(C3):c.2864-20A>G
|
rs2287847
|
0.76762
|
NM_000064.4(C3):c.2745T>C (p.Ala915=)
|
rs423490
|
0.76736
|
NM_018429.3(BDP1):c.114T>G (p.Asp38Glu)
|
rs3748043
|
0.76698
|
NM_000064.4(C3):c.2246-8C>T
|
rs406514
|
0.76696
|
NM_000601.6(HGF):c.1272-4A>G
|
rs1800793
|
0.76662
|
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)
|
rs10501429
|
0.76474
|
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)
|
rs2430347
|
0.76291
|
NM_015404.4(WHRN):c.1353T>C (p.Gly451=)
|
rs4979387
|
0.76260
|
NM_016239.4(MYO15A):c.5826-12A>C
|
rs854778
|
0.76256
|
NM_016239.4(MYO15A):c.7787+27G>T
|
rs854773
|
0.76122
|
NM_005422.4(TECTA):c.1485A>G (p.Ala495=)
|
rs536069
|
0.76077
|
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)
|
rs1139405
|
0.75861
|
NM_001042517.2(DIAPH3):c.627-20G>A
|
rs2762134
|
0.75789
|
NM_172240.3(POC1B):c.1113+7C>T
|
rs4842658
|
0.75411
|
NM_001191057.4(PDE1C):c.1203+28A>G
|
rs2270218
|
0.75344
|
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly)
|
rs1893566
|
0.75216
|
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)
|
rs2797235
|
0.74921
|
NM_001286445.3(RIPOR2):c.2811T>C (p.Ser937=)
|
rs9358804
|
0.74640
|
NM_001145809.2(MYH14):c.2694+30T>C
|
rs1529492
|
0.74599
|
NM_000843.4(GRM6):c.1131C>T (p.Asp377=)
|
rs2071246
|
0.74455
|
NM_001145809.2(MYH14):c.2250A>G (p.Pro750=)
|
rs1651553
|
0.74436
|
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro)
|
rs1042065
|
0.74364
|
NM_022124.6(CDH23):c.366T>C (p.Val122=)
|
rs3802720
|
0.74285
|
NM_022124.6(CDH23):c.146-125T>C
|
rs2297953
|
0.74120
|
NM_000541.5(SAG):c.733+31T>G
|
rs745498
|
0.73982
|
NM_022124.6(CDH23):c.429+26A>G
|
rs3802718
|
0.73928
|
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=)
|
rs586473
|
0.73877
|
NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=)
|
rs2877561
|
0.73781
|
NM_080680.3(COL11A2):c.3313-11C>T
|
rs2855437
|
0.73560
|
NM_022124.6(CDH23):c.429+13G>A
|
rs3802719
|
0.73455
|
NM_006204.4(PDE6C):c.1270-7A>G
|
rs616522
|
0.73216
|
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)
|
rs1227051
|
0.73017
|
NM_022124.6(CDH23):c.4618-77C>T
|
rs1227052
|
0.72986
|
NM_152419.3(HGSNAT):c.371+82C>T
|
rs10958738
|
0.72852
|
NM_001142800.2(EYS):c.5928-35T>C
|
rs587278
|
0.72606
|
NM_172364.5(CACNA2D4):c.1068+89T>C
|
rs10774003
|
0.72251
|
NM_016356.5(DCDC2):c.*3C>G
|
rs9358755
|
0.72045
|
NM_001378609.3(OTOGL):c.2519-31A>G
|
rs4483657
|
0.71868
|
NM_001384140.1(PCDH15):c.706-8C>T
|
rs10740579
|
0.71606
|
NM_001164665.2(KIAA1549):c.3708G>T (p.Pro1236=)
|
rs7802841
|
0.71421
|
NM_002160.4(TNC):c.6022G>C (p.Glu2008Gln)
|
rs13321
|
0.71355
|
NM_001145319.2(PLS1):c.1256+18C>T
|
rs6789958
|
0.71322
|
NM_024678.6(NARS2):c.414T>C (p.Tyr138=)
|
rs10751296
|
0.71183
|
NM_016247.4(IMPG2):c.85+25T>G
|
rs573908
|
0.71056
|
NM_001297.5(CNGB1):c.217+46G>A
|
rs3859043
|
0.70935
|
NM_017433.5(MYO3A):c.2716-29G>A
|
rs3818956
|
0.70675
|
NM_000188.3(HK1):c.1839+31G>A
|
rs749105
|
0.70672
|
NM_001145319.2(PLS1):c.1128G>A (p.Pro376=)
|
rs6793735
|
0.70582
|
NM_021116.4(ADCY1):c.1149-31C>G
|
rs2461131
|
0.70197
|
NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp)
|
rs4840502
|
0.70110
|
NM_000064.4(C3):c.2950+48T>C
|
rs2287848
|
0.70105
|
NM_001384140.1(PCDH15):c.3010-48G>A
|
rs2593107
|
0.70086
|
NM_001375524.1(TRRAP):c.2200-46C>T
|
rs1859662
|
0.69438
|
NM_017433.5(MYO3A):c.1105G>A (p.Val369Ile)
|
rs3817420
|
0.69434
|
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=)
|
rs190450
|
0.69111
|
NM_017697.4(ESRP1):c.756-23T>C
|
rs1426171
|
0.69081
|
NM_001375524.1(TRRAP):c.898-46C>T
|
rs7777927
|
0.69053
|
NM_201548.5(CERKL):c.*121C>T
|
rs6747500
|
0.68932
|
NM_001999.4(FBN2):c.5675-9C>T
|
rs27713
|
0.68788
|
NM_017433.5(MYO3A):c.1042A>G (p.Ile348Val)
|
rs3824699
|
0.68769
|
NM_014989.7(RIMS1):c.666A>G (p.Leu222=)
|
rs2249021
|
0.68629
|
NM_001080516.2(GRXCR2):c.543A>C (p.Leu181Phe)
|
rs2569006
|
0.68522
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_000064.4(C3):c.2863+47G>C
|
rs2287846
|
0.67951
|
NM_005219.5(DIAPH1):c.1461+20G>A
|
rs2302103
|
0.67950
|
NM_004526.4(MCM2):c.504C>T (p.Ile168=)
|
rs893293
|
0.67673
|
NM_001142800.2(EYS):c.1300-3C>T
|
rs1936439
|
0.67522
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
NM_001142800.2(EYS):c.2641+198A>C
|
rs10046141
|
0.67344
|
NM_000064.4(C3):c.2797-21C>A
|
rs2355315
|
0.67336
|
NM_170682.4(P2RX2):c.468T>C (p.Thr156=)
|
rs7964634
|
0.67274
|
NM_170682.4(P2RX2):c.636-13G>A
|
rs6560891
|
0.66828
|
NM_080680.3(COL11A2):c.4339-49G>T
|
rs2855453
|
0.66736
|
NM_001124758.3(SPNS2):c.1444-26T>C
|
rs1076072
|
0.66646
|
NM_001304438.2(TMEM132E):c.67+48T>C
|
rs7218304
|
0.66325
|
NM_004700.4(KCNQ4):c.708+14G>C
|
rs2361660
|
0.66283
|
NM_006899.5(IDH3B):c.118-3G>C
|
rs2073193
|
0.66092
|
NM_001297.5(CNGB1):c.838-36G>A
|
rs503686
|
0.65836
|
NM_000350.3(ABCA4):c.5585-70C>T
|
rs537831
|
0.65778
|
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)
|
rs4660468
|
0.65693
|
NM_000064.4(C3):c.2863+7C>T
|
rs2287845
|
0.65549
|
NM_000064.4(C3):c.2421G>C (p.Val807=)
|
rs428453
|
0.65502
|
NM_000064.4(C3):c.2355-23A>G
|
rs432823
|
0.65496
|
NM_000064.4(C3):c.2440+96T>C
|
rs433594
|
0.65473
|
NM_000064.4(C3):c.2797-29C>T
|
rs2253756
|
0.65339
|
NM_178335.3(CCDC50):c.50-4C>G
|
rs188384
|
0.65003
|
NM_003322.6(TULP1):c.499+26C>T
|
rs2273001
|
0.64980
|
NM_001145809.2(MYH14):c.5469+16C>T
|
rs3745510
|
0.64922
|
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)
|
rs571391
|
0.64801
|
NM_033641.4(COL4A6):c.2956+39G>A
|
rs2295914
|
0.64644
|
NM_080680.3(COL11A2):c.3853-39G>A
|
rs2855448
|
0.64558
|
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)
|
rs1763347
|
0.64340
|
NM_001195263.2(PDZD7):c.367+7A>G
|
rs6584410
|
0.64290
|
NM_194248.3(OTOF):c.711-49A>C
|
rs6547079
|
0.64250
|
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
|
rs4961206
|
0.64246
|
NM_031935.3(HMCN1):c.11684-13G>A
|
rs10157742
|
0.64202
|
NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=)
|
rs3745509
|
0.63924
|
NM_007348.4(ATF6):c.1896A>G (p.Ser632=)
|
rs9482
|
0.63750
|
NM_000260.4(MYO7A):c.5743-12T>C
|
rs2276291
|
0.63742
|
NM_004568.6(SERPINB6):c.573+26A>G
|
rs2244693
|
0.63676
|
NM_000186.4(CFH):c.1204C>T (p.His402Tyr)
|
rs1061170
|
0.63625
|
NM_031935.3(HMCN1):c.8885-7A>G
|
rs6425017
|
0.63553
|
NM_178335.3(CCDC50):c.976+56A>G
|
rs293806
|
0.63457
|
NM_022772.4(EPS8L2):c.100+72T>C
|
rs11605783
|
0.63378
|
NM_001297.5(CNGB1):c.1801+23T>C
|
rs166000
|
0.63352
|
NM_000260.4(MYO7A):c.5944+57G>A
|
rs948961
|
0.63248
|
NM_000260.4(MYO7A):c.3750+89C>T
|
rs2276286
|
0.63230
|
NM_001793.6(CDH3):c.720G>A (p.Thr240=)
|
rs2296409
|
0.63066
|
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=)
|
rs7522627
|
0.63057
|
NM_001793.6(CDH3):c.813C>A (p.Thr271=)
|
rs2296408
|
0.62977
|
NM_000260.4(MYO7A):c.2905-54A>G
|
rs7117606
|
0.62793
|
NM_144672.4(OTOA):c.1630-5C>T
|
rs215901
|
0.62768
|
NM_000350.3(ABCA4):c.4773+48C>T
|
rs472908
|
0.62724
|
NM_022124.6(CDH23):c.2316T>C (p.Asn772=)
|
rs3752752
|
0.62582
|
NM_022124.6(CDH23):c.2388T>C (p.Asp796=)
|
rs3752751
|
0.62557
|
NM_022124.6(CDH23):c.2397+26T>C
|
rs3752750
|
0.62554
|
NM_006343.3(MERTK):c.1552A>G (p.Ile518Val)
|
rs2230515
|
0.62489
|
NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys)
|
rs7604639
|
0.62439
|
NM_033641.4(COL4A6):c.949-31C>G
|
rs1266719
|
0.62433
|
NM_000260.4(MYO7A):c.3751-94C>G
|
rs7947922
|
0.62425
|
NM_001793.6(CDH3):c.1626T>C (p.Asn542=)
|
rs2296405
|
0.62283
|
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=)
|
rs3736455
|
0.62273
|
NM_001012720.2(RGR):c.27T>C (p.Thr9=)
|
rs2279227
|
0.62051
|
NM_000186.4(CFH):c.921A>C (p.Ala307=)
|
rs1061147
|
0.61990
|
NM_022124.6(CDH23):c.1134+164C>G
|
rs7903772
|
0.61986
|
NM_002473.6(MYH9):c.3837+25C>T
|
rs4821478
|
0.61886
|
NM_001793.6(CDH3):c.1956G>A (p.Lys652=)
|
rs2274239
|
0.61024
|
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys)
|
rs13146272
|
0.60911
|
NM_000260.4(MYO7A):c.2367+67T>C
|
rs10793239
|
0.60184
|
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser)
|
rs1999240
|
0.60118
|
NM_133497.4(KCNV2):c.183C>G (p.Gly61=)
|
rs10967705
|
0.59972
|
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys)
|
rs2276288
|
0.59864
|
NM_000322.5(PRPH2):c.318T>C (p.Val106=)
|
rs7764439
|
0.59853
|
NM_025257.3(SLC44A4):c.976A>G (p.Met326Val)
|
rs644827
|
0.59842
|
NM_025257.3(SLC44A4):c.937+44C>T
|
rs493515
|
0.59832
|
NM_025257.3(SLC44A4):c.938-11G>A
|
rs644774
|
0.59820
|
NM_025257.3(SLC44A4):c.1130+45G>T
|
rs660550
|
0.59818
|
NM_025257.3(SLC44A4):c.559G>A (p.Val187Ile)
|
rs2242665
|
0.59805
|
NM_025257.3(SLC44A4):c.537G>A (p.Gly179=)
|
rs2242664
|
0.59794
|
NM_001384140.1(PCDH15):c.2751+37C>T
|
rs3812658
|
0.59606
|
NM_001127453.2(GSDME):c.212-30G>A
|
rs2521768
|
0.59590
|
NM_000362.5(TIMP3):c.249T>C (p.His83=)
|
rs9862
|
0.59578
|
NM_000260.4(MYO7A):c.4324-207C>G
|
rs12802853
|
0.59234
|
NM_000260.4(MYO7A):c.4324-202A>G
|
rs12421897
|
0.59230
|
NM_000260.4(MYO7A):c.4323+35G>T
|
rs1109977
|
0.59156
|
NM_000260.4(MYO7A):c.5637-175A>G
|
rs4945160
|
0.59068
|
NM_000260.4(MYO7A):c.5480+162C>G
|
rs11237120
|
0.59043
|
NM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg)
|
rs739138
|
0.58971
|
NM_006343.3(MERTK):c.757+13T>C
|
rs3761701
|
0.58627
|
NM_201548.5(CERKL):c.1133+13T>C
|
rs12997453
|
0.58511
|
NM_018191.4(RCBTB1):c.71C>T (p.Ala24Val)
|
rs4942848
|
0.58488
|
NM_201548.5(CERKL):c.896-18T>A
|
rs13003064
|
0.58461
|
NM_000260.4(MYO7A):c.5481-83A>G
|
rs11237121
|
0.58275
|
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=)
|
rs3814213
|
0.58250
|
NM_178335.3(CCDC50):c.1092+58C>T
|
rs293814
|
0.58227
|
NM_000283.4(PDE6B):c.*12A>G
|
rs28675771
|
0.58217
|
NM_178335.3(CCDC50):c.1242+10G>A
|
rs211043
|
0.58210
|
NM_178335.3(CCDC50):c.1269C>A (p.Ser423=)
|
rs364519
|
0.58203
|
NM_178335.3(CCDC50):c.995T>C (p.Met332Thr)
|
rs293813
|
0.58148
|
NM_014003.4(DHX38):c.1308T>C (p.Ala436=)
|
rs1050363
|
0.58097
|
NM_000843.4(GRM6):c.1500+23A>G
|
rs2256966
|
0.57932
|
NM_080680.3(COL11A2):c.2628+3G>A
|
rs970901
|
0.57903
|
NM_006343.3(MERTK):c.1881A>G (p.Ser627=)
|
rs1131244
|
0.57808
|
NM_153676.4(USH1C):c.-183T>G
|
rs1859819
|
0.57652
|
NM_017697.4(ESRP1):c.490+16T>C
|
rs60139063
|
0.57366
|
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro)
|
rs2645329
|
0.57334
|
NM_001854.4(COL11A1):c.2611-19A>C
|
rs11164649
|
0.57301
|
NM_153676.4(USH1C):c.1086-45A>G
|
rs2041031
|
0.57266
|
NM_000843.4(GRM6):c.1392A>G (p.Gly464=)
|
rs11746675
|
0.57251
|
NM_153676.4(USH1C):c.1086-42G>A
|
rs2108332
|
0.57242
|
NM_002160.4(TNC):c.2131+38T>C
|
rs1755639
|
0.56997
|
NM_194248.3(OTOF):c.2736G>C (p.Leu912=)
|
rs4335905
|
0.56927
|
NM_001145809.2(MYH14):c.657G>A (p.Ala219=)
|
rs4801822
|
0.56915
|
NM_001256317.3(TMPRSS3):c.447-13A>G
|
rs8130564
|
0.56900
|
NM_000260.4(MYO7A):c.5856+50G>A
|
rs2276290
|
0.56770
|
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=)
|
rs2276293
|
0.56709
|
NM_000260.4(MYO7A):c.6051+17T>A
|
rs1320702
|
0.56699
|
NM_000260.4(MYO7A):c.5857-7A>T
|
rs1320703
|
0.56654
|
NM_000188.3(HK1):c.2219+27T>C
|
rs2278745
|
0.56586
|
NM_000260.4(MYO7A):c.5944+67C>T
|
rs948960
|
0.56521
|
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly)
|
rs10798035
|
0.56453
|
NM_001127453.2(GSDME):c.447A>G (p.Glu149=)
|
rs876305
|
0.56409
|
NM_001127453.2(GSDME):c.576+21C>A
|
rs876307
|
0.56398
|
NM_153676.4(USH1C):c.1086-108A>G
|
rs2041032
|
0.56388
|
NM_001042517.2(DIAPH3):c.1014+27G>C
|
rs339540
|
0.56368
|
NM_153676.4(USH1C):c.37-45C>G
|
rs2240489
|
0.56124
|
NM_153676.4(USH1C):c.760-66T>C
|
rs4757539
|
0.56102
|
NM_000350.3(ABCA4):c.4128+156C>T
|
rs4147841
|
0.56024
|
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=)
|
rs854772
|
0.55976
|
NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn)
|
rs4698797
|
0.55919
|
NM_022772.4(EPS8L2):c.301C>T (p.Leu101=)
|
rs3087546
|
0.55660
|
NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu)
|
rs764205
|
0.55477
|
NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala)
|
rs11783478
|
0.55174
|
NM_001127453.2(GSDME):c.863-37C>T
|
rs2721809
|
0.55124
|
NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=)
|
rs56382513
|
0.55050
|
NM_001164665.2(KIAA1549):c.2973C>T (p.Tyr991=)
|
rs6969074
|
0.54454
|
NM_001039141.3(TRIOBP):c.4063-21A>C
|
rs13054052
|
0.54357
|
NM_203288.2(RP9):c.313+44T>A
|
rs11771864
|
0.54313
|
NM_152443.3(RDH12):c.187+60G>A
|
rs61991867
|
0.54260
|
NM_000329.3(RPE65):c.644-33C>G
|
rs1925955
|
0.54169
|
NM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn)
|
rs12628603
|
0.54098
|
NM_001145026.2(PTPRQ):c.3155-34A>T
|
rs11114502
|
0.54055
|
NM_145200.5(CABP4):c.541+7C>G
|
rs1638564
|
0.53792
|
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr)
|
rs12129650
|
0.53397
|
NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=)
|
rs3745504
|
0.53291
|
NM_001793.6(CDH3):c.2239C>A (p.Arg747=)
|
rs17715450
|
0.53279
|
NM_002497.4(NEK2):c.504T>C (p.His168=)
|
rs701929
|
0.53247
|
NM_002473.6(MYH9):c.1554+7A>G
|
rs3752462
|
0.53193
|
NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=)
|
rs3749921
|
0.53171
|
NM_170682.4(P2RX2):c.997-40C>T
|
rs4883632
|
0.53086
|
NM_001379270.1(CNGA1):c.-15+10300C>T
|
rs7693648
|
0.52918
|
NM_000260.4(MYO7A):c.1936-23G>A
|
rs2276283
|
0.52888
|
NM_033100.4(CDHR1):c.477A>G (p.Ala159=)
|
rs4933975
|
0.52743
|
NM_001142800.2(EYS):c.1146T>C (p.Asn382=)
|
rs974110
|
0.52503
|
NM_001164665.2(KIAA1549):c.1849A>G (p.Arg617Gly)
|
rs2774962
|
0.52408
|
NM_031935.3(HMCN1):c.12230-7A>C
|
rs2057388
|
0.52362
|
NM_001145026.2(PTPRQ):c.2505C>G (p.Leu835=)
|
rs12824064
|
0.52337
|
NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=)
|
rs12401573
|
0.52167
|
NM_016239.4(MYO15A):c.4954C>T (p.Leu1652=)
|
rs2280777
|
0.52028
|
NM_138691.3(TMC1):c.45C>T (p.Asp15=)
|
rs2589615
|
0.51851
|
NM_194248.3(OTOF):c.509+39A>T
|
rs7575020
|
0.51850
|
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser)
|
rs1045644
|
0.51720
|
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn)
|
rs3758449
|
0.51636
|
NM_153676.4(USH1C):c.1188A>G (p.Pro396=)
|
rs2240487
|
0.51629
|
NM_022124.6(CDH23):c.4488+32C>G
|
rs10762474
|
0.51502
|
NM_172364.5(CACNA2D4):c.2659-37G>A
|
rs2286377
|
0.51307
|
NM_022124.6(CDH23):c.1135-128A>G
|
rs10823810
|
0.51167
|
NM_000260.4(MYO7A):c.3924+12C>T
|
rs2276285
|
0.51057
|
NM_016356.5(DCDC2):c.661A>G (p.Ser221Gly)
|
rs2274305
|
0.51051
|
NM_001012720.2(RGR):c.459C>T (p.Tyr153=)
|
rs1042454
|
0.50840
|
NM_001145809.2(MYH14):c.3681-26A>T
|
rs788337
|
0.50766
|
NM_031220.4(PITPNM3):c.705C>T (p.Thr235=)
|
rs938288
|
0.50749
|
NM_000064.4(C3):c.4457-56A>G
|
rs2277983
|
0.50710
|
NM_014003.4(DHX38):c.147C>G (p.Leu49=)
|
rs1050361
|
0.50708
|
NM_000843.4(GRM6):c.1353T>C (p.Asn451=)
|
rs2067011
|
0.50613
|
NM_000064.4(C3):c.4896C>T (p.Pro1632=)
|
rs17030
|
0.50596
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)
|
rs9342464
|
0.50535
|
NM_002160.4(TNC):c.2248-32C>T
|
rs2989519
|
0.50397
|
NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=)
|
rs10851500
|
0.50188
|
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)
|
rs1799910
|
0.50179
|
NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667
|
0.50077
|
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)
|
rs3753841
|
0.50032
|
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=)
|
rs2645339
|
0.49941
|
NM_022124.6(CDH23):c.1753-78A>T
|
rs3802717
|
0.49901
|
NM_001142800.2(EYS):c.1767-136T>G
|
rs9342465
|
0.49843
|
NM_000064.4(C3):c.4457-4G>A
|
rs2277984
|
0.49417
|
NM_001145026.2(PTPRQ):c.2371C>A (p.Gln791Lys)
|
rs11114486
|
0.49400
|
NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro)
|
rs12102203
|
0.49370
|
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)
|
rs2229783
|
0.49335
|
NM_001297.5(CNGB1):c.2218-12C>T
|
rs483053
|
0.49292
|
NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=)
|
rs2839501
|
0.49190
|
NM_178335.3(CCDC50):c.651T>C (p.His217=)
|
rs2028572
|
0.49117
|
NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn)
|
rs2028574
|
0.49112
|
NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg)
|
rs4677728
|
0.49101
|
NM_001171971.3(CDHR1):c.2145G>A (p.Leu715=)
|
rs4244947
|
0.49096
|
NM_178335.3(CCDC50):c.976+6A>G
|
rs4677729
|
0.49066
|
NM_000260.4(MYO7A):c.2905-162T>G
|
rs59698916
|
0.48946
|
NM_020949.3(SLC7A14):c.1116-12C>T
|
rs1861939
|
0.48925
|
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)
|
rs2627765
|
0.48848
|
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu)
|
rs6571751
|
0.48811
|
NM_018191.4(RCBTB1):c.*6A>G
|
rs7317982
|
0.48798
|
NM_000350.3(ABCA4):c.302+26A>G
|
rs2297634
|
0.48752
|
NM_017697.4(ESRP1):c.1800T>C (p.Asn600=)
|
rs12677519
|
0.48717
|
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly)
|
rs612969
|
0.48670
|
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val)
|
rs2303345
|
0.48575
|
NM_007348.4(ATF6):c.1434-3T>A
|
rs2257107
|
0.48568
|
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)
|
rs1064074
|
0.48497
|
NM_004183.4(BEST1):c.109T>C (p.Leu37=)
|
rs1800007
|
0.48331
|
NM_002160.4(TNC):c.696A>G (p.Val232=)
|
rs2992147
|
0.48200
|
NM_002160.4(TNC):c.2039A>G (p.Gln680Arg)
|
rs1061494
|
0.48121
|
NM_001854.4(COL11A1):c.274+42G>C
|
rs11164662
|
0.48053
|
NM_002160.4(TNC):c.276G>A (p.Val92=)
|
rs944510
|
0.47973
|
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr)
|
rs942519
|
0.47944
|
NM_153676.4(USH1C):c.1413+52C>T
|
rs2190453
|
0.47939
|
NM_001292063.2(OTOG):c.2038T>C (p.Ser680Pro)
|
rs7106548
|
0.47894
|
NM_001378457.1(DMXL2):c.27A>G (p.Gly9=)
|
rs2278989
|
0.47808
|
NM_001378457.1(DMXL2):c.81C>T (p.Pro27=)
|
rs2278990
|
0.47740
|
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=)
|
rs7927472
|
0.47702
|
NM_017433.5(MYO3A):c.1170+7C>T
|
rs3817419
|
0.47630
|
NM_017433.5(MYO3A):c.956G>A (p.Arg319His)
|
rs3824700
|
0.47622
|
NM_005422.4(TECTA):c.5272+26A>G
|
rs662496
|
0.47584
|
NM_017433.5(MYO3A):c.1104C>T (p.Tyr368=)
|
rs35379457
|
0.47540
|
NM_017433.5(MYO3A):c.1053+11C>T
|
rs3824698
|
0.47508
|
NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile)
|
rs1185246
|
0.47503
|
NM_002160.4(TNC):c.5029A>T (p.Ile1677Leu)
|
rs2104772
|
0.47499
|
NM_017433.5(MYO3A):c.1053+12A>G
|
rs3824697
|
0.47492
|
NM_017433.5(MYO3A):c.954-32A>G
|
rs3824701
|
0.47455
|
NM_015662.3(IFT172):c.2116-31T>C
|
rs780107
|
0.47348
|
NM_015662.3(IFT172):c.1829+12G>A
|
rs1647276
|
0.47329
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=)
|
rs1035705
|
0.47013
|
NM_001378457.1(DMXL2):c.8077-22C>T
|
rs7165887
|
0.46698
|
NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=)
|
rs12592889
|
0.46637
|
NM_012478.4(WBP2):c.305-5T>C
|
rs2290771
|
0.46485
|
NM_001297.5(CNGB1):c.1122-15C>T
|
rs2303778
|
0.46316
|
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=)
|
rs1799908
|
0.46292
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_001145809.2(MYH14):c.2355-14C>T
|
rs12981413
|
0.46235
|
NM_014003.4(DHX38):c.2316C>A (p.Ala772=)
|
rs2074626
|
0.46156
|
NM_000260.4(MYO7A):c.1080+65T>C
|
rs4944145
|
0.46104
|
NM_001563.4(IMPG1):c.1552C>G (p.His518Asp)
|
rs3734311
|
0.46014
|
NM_139319.3(SLC17A8):c.*39A>C
|
rs11568537
|
0.45975
|
NM_014003.4(DHX38):c.1698G>A (p.Thr566=)
|
rs2240243
|
0.45838
|
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)
|
rs11120047
|
0.45814
|
NM_153676.4(USH1C):c.37-61A>G
|
rs878546
|
0.45653
|
NM_001122769.3(LCA5):c.*223A>G
|
rs2292109
|
0.45638
|
NM_014714.4(IFT140):c.3454-48A>G
|
rs932391
|
0.45637
|
NM_001999.4(FBN2):c.6880+17G>A
|
rs2042327
|
0.45423
|
NM_133497.4(KCNV2):c.795C>G (p.Ala265=)
|
rs12237048
|
0.45225
|
NM_033109.5(PNPT1):c.1074-19A>G
|
rs782637
|
0.45197
|
NM_153676.4(USH1C):c.*211A>G
|
rs1055581
|
0.45185
|
NM_002602.4(PDE6G):c.*45G>A
|
rs8477
|
0.45150
|
NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala)
|
rs11703226
|
0.45122
|
NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro)
|
rs35602868
|
0.45034
|
NM_001286445.3(RIPOR2):c.*7G>A
|
rs9358799
|
0.44982
|
NM_018429.3(BDP1):c.3538G>A (p.Gly1180Ser)
|
rs715748
|
0.44915
|
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val)
|
rs782572
|
0.44915
|
NM_001349884.2(DRAM2):c.693+14A>G
|
rs325916
|
0.44754
|
NM_018429.3(BDP1):c.3730T>A (p.Phe1244Ile)
|
rs1961760
|
0.44739
|
NM_018429.3(BDP1):c.5893-36G>A
|
rs276590
|
0.44671
|
NM_002075.4(GNB3):c.825C>T (p.Ser275=)
|
rs5443
|
0.44600
|
NM_001793.6(CDH3):c.160+117G>A
|
rs2236393
|
0.44521
|
NM_014714.4(IFT140):c.-17G>C
|
rs1894649
|
0.44364
|
NM_018429.3(BDP1):c.7074G>T (p.Pro2358=)
|
rs469039
|
0.44242
|
NM_018429.3(BDP1):c.2332G>A (p.Val778Met)
|
rs3761967
|
0.44225
|
NM_172364.5(CACNA2D4):c.*55A>C
|
rs2058111
|
0.44223
|
NM_144498.4(OSBPL2):c.1125+15A>G
|
rs2297592
|
0.44193
|
NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly)
|
rs4840501
|
0.44121
|
NM_138393.4(REEP6):c.518-113C>T
|
rs2244794
|
0.44078
|
NM_153676.4(USH1C):c.*46T>C
|
rs1055574
|
0.44023
|
NM_014714.4(IFT140):c.148-22A>T
|
rs2236269
|
0.43860
|
NM_138393.4(REEP6):c.518-52G>T
|
rs2244801
|
0.43855
|
NM_153676.4(USH1C):c.*186C>T
|
rs1055577
|
0.43773
|
NM_001322059.2(PDE1C):c.471G>A (p.Glu157=)
|
rs977626
|
0.43760
|
NM_001164665.2(KIAA1549):c.2546C>T (p.Ser849Leu)
|
rs2251220
|
0.43675
|
NM_001614.5(ACTG1):c.363+13C>A
|
rs9910792
|
0.43644
|
NM_001793.6(CDH3):c.247-38A>G
|
rs1952048
|
0.43462
|
NM_017433.5(MYO3A):c.586-22T>C
|
rs3737275
|
0.43457
|
NM_000186.4(CFH):c.1419G>A (p.Ala473=)
|
rs2274700
|
0.43407
|
NM_153676.4(USH1C):c.1085+21C>G
|
rs2240488
|
0.43168
|
NM_016239.4(MYO15A):c.3609+21C>G
|
rs712268
|
0.43124
|
NM_006204.4(PDE6C):c.1935+10C>A
|
rs1409332
|
0.43098
|
NM_014714.4(IFT140):c.1968T>C (p.Ser656=)
|
rs8048410
|
0.42981
|
NM_033100.4(CDHR1):c.1662A>G (p.Glu554=)
|
rs10749482
|
0.42520
|
NM_022124.6(CDH23):c.832+101G>A
|
rs6480531
|
0.42446
|
NM_139319.3(SLC17A8):c.1187-45C>T
|
rs11568536
|
0.42236
|
NM_018429.3(BDP1):c.4060-77G>A
|
rs418738
|
0.41911
|
NM_018429.3(BDP1):c.6462C>T (p.Leu2154=)
|
rs182190
|
0.41887
|
NM_016366.3(CABP2):c.281G>A (p.Arg94Gln)
|
rs2276118
|
0.41880
|
NM_153676.4(USH1C):c.105-16C>T
|
rs2041027
|
0.41822
|
NM_018429.3(BDP1):c.4405A>G (p.Lys1469Glu)
|
rs1698063
|
0.41809
|
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser)
|
rs74990397
|
0.41802
|
NM_001164665.2(KIAA1549):c.1955C>T (p.Pro652Leu)
|
rs2774960
|
0.41799
|
NM_002906.4(RDX):c.1587+38T>G
|
rs10450619
|
0.41780
|
NM_001124758.3(SPNS2):c.1443+28A>G
|
rs12945732
|
0.41588
|
NM_022124.6(CDH23):c.4846-49T>C
|
rs7917781
|
0.41434
|
NM_201253.3(CRB1):c.2677-493A>G
|
rs7534863
|
0.41382
|
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=)
|
rs2955366
|
0.41355
|
NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg)
|
rs55642448
|
0.41338
|
NM_144498.4(OSBPL2):c.1249+4C>T
|
rs3746657
|
0.41122
|
NM_201548.5(CERKL):c.156C>T (p.Phe52=)
|
rs1473295
|
0.40745
|
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser)
|
rs11592462
|
0.40744
|
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala)
|
rs2274159
|
0.40624
|
NM_000186.4(CFH):c.59-36C>T
|
rs551397
|
0.40527
|
NM_172364.5(CACNA2D4):c.1940+49A>G
|
rs10848582
|
0.40511
|
NM_000186.4(CFH):c.184G>A (p.Val62Ile)
|
rs800292
|
0.40446
|
NM_001195263.2(PDZD7):c.1749+43del
|
rs34125357
|
0.40205
|
NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys)
|
rs4354268
|
0.40064
|
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr)
|
rs2955365
|
0.39950
|
NM_017433.5(MYO3A):c.3850A>T (p.Thr1284Ser)
|
rs3740231
|
0.39847
|
NM_138393.4(REEP6):c.349-21A>G
|
rs2244686
|
0.39828
|
NM_021961.6(TEAD1):c.513C>T (p.Asp171=)
|
rs2304733
|
0.39817
|
NM_001098.3(ACO2):c.836-54T>C
|
rs203320
|
0.39646
|
NM_022124.6(CDH23):c.5187+99T>C
|
rs10762481
|
0.39527
|
NM_006017.3(PROM1):c.303+6G>A
|
rs2078622
|
0.39397
|
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg)
|
rs10911825
|
0.39391
|
NM_019098.5(CNGB3):c.852+55C>T
|
rs3735967
|
0.39180
|
NM_153676.4(USH1C):c.36+214C>T
|
rs7125811
|
0.39120
|
NM_001142800.2(EYS):c.2260-76G>A
|
rs9453115
|
0.39093
|
NM_018418.5(SPATA7):c.220G>A (p.Val74Met)
|
rs3179969
|
0.39047
|
NM_198999.3(SLC26A5):c.403+14T>C
|
rs7779997
|
0.38939
|
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)
|
rs3207090
|
0.38895
|
NM_001292063.2(OTOG):c.1955+24C>T
|
rs10832802
|
0.38692
|
NM_001145809.2(MYH14):c.2205C>G (p.Arg735=)
|
rs378811
|
0.38312
|
NM_000541.5(SAG):c.436-18G>C
|
rs2304774
|
0.38156
|
NM_153676.4(USH1C):c.2656-47C>T
|
rs2072225
|
0.38117
|
NM_000539.3(RHO):c.-26A>G
|
rs7984
|
0.38071
|
NM_017739.4(POMGNT1):c.1027-44A>G
|
rs7527668
|
0.37971
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_022772.4(EPS8L2):c.774C>T (p.Ile258=)
|
rs7635
|
0.37863
|
NM_144672.4(OTOA):c.*47A>G
|
rs460598
|
0.37728
|
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=)
|
rs56076827
|
0.37673
|
NM_022124.6(CDH23):c.-5-83C>A
|
rs4747153
|
0.37515
|
NM_001292063.2(OTOG):c.2340G>A (p.Pro780=)
|
rs4757548
|
0.37391
|
NM_024915.4(GRHL2):c.*41G>A
|
rs3735713
|
0.37317
|
NM_024915.4(GRHL2):c.1764-19C>T
|
rs10093032
|
0.37291
|
NM_144498.4(OSBPL2):c.394-17C>T
|
rs2236526
|
0.37206
|
NM_001292063.2(OTOG):c.2561+14G>A
|
rs4756902
|
0.37182
|
NM_000064.4(C3):c.1692G>A (p.Val564=)
|
rs2230204
|
0.36996
|
NM_031220.4(PITPNM3):c.1625-9G>A
|
rs11654175
|
0.36838
|
NM_014714.4(IFT140):c.-31-52T>A
|
rs743963
|
0.36752
|
NM_001098.3(ACO2):c.836-118C>T
|
rs9619974
|
0.36682
|
NM_001098.3(ACO2):c.670C>T (p.Leu224=)
|
rs1799932
|
0.36650
|
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)
|
rs2064317
|
0.36637
|
NM_000188.3(HK1):c.78C>G (p.Leu26=)
|
rs1133189
|
0.36523
|
NM_001297.5(CNGB1):c.327C>T (p.Gly109=)
|
rs17821448
|
0.36508
|
NM_207352.4(CYP4V2):c.802-7C>T
|
rs3817184
|
0.36293
|
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)
|
rs1875845
|
0.36167
|
NM_138393.4(REEP6):c.348+28G>A
|
rs2277748
|
0.36084
|
NM_001377295.2(GNAT2):c.546G>A (p.Thr182=)
|
rs1799875
|
0.35862
|
NM_153676.4(USH1C):c.2547-11T>C
|
rs10832795
|
0.35821
|
NM_004100.5(EYA4):c.*23C>T
|
rs3734279
|
0.35809
|
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)
|
rs13031859
|
0.35740
|
NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=)
|
rs10832824
|
0.35674
|
NM_001292063.2(OTOG):c.8364G>C (p.Leu2788=)
|
rs2023483
|
0.35618
|
NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=)
|
rs7284476
|
0.35508
|
NM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=)
|
rs739137
|
0.35439
|
NM_001039141.3(TRIOBP):c.2589C>A (p.Asn863Lys)
|
rs9610841
|
0.35396
|
NM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu)
|
rs5756795
|
0.35350
|
NM_031935.3(HMCN1):c.4857T>C (p.His1619=)
|
rs6665753
|
0.35166
|
NM_133261.3(GIPC3):c.226-22A>G
|
rs8100350
|
0.35153
|
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)
|
rs4710457
|
0.35152
|
NM_022124.6(CDH23):c.624+64C>T
|
rs7087735
|
0.34986
|
NM_001124758.3(SPNS2):c.436+31G>A
|
rs9894697
|
0.34965
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_017739.4(POMGNT1):c.951-52A>G
|
rs7527935
|
0.34868
|
NM_017739.4(POMGNT1):c.1212-66T>C
|
rs2292484
|
0.34786
|
NM_017739.4(POMGNT1):c.1212-81C>T
|
rs2292485
|
0.34766
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_006017.3(PROM1):c.2374-6T>C
|
rs6449209
|
0.34571
|
NM_020366.4(RPGRIP1):c.1152-65G>A
|
rs3748357
|
0.34499
|
NM_000260.4(MYO7A):c.6439-31G>A
|
rs883223
|
0.34445
|
NM_014714.4(IFT140):c.*59T>C
|
rs1053730
|
0.34440
|
NM_016239.4(MYO15A):c.8322C>T (p.Ser2774=)
|
rs712272
|
0.34416
|
NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=)
|
rs4840499
|
0.34398
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_016239.4(MYO15A):c.8045A>T (p.Tyr2682Phe)
|
rs712270
|
0.34278
|
NM_016239.4(MYO15A):c.8460-15C>T
|
rs861278
|
0.34259
|
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly)
|
rs2955367
|
0.34123
|
NM_000245.4(MET):c.4092G>A (p.Pro1364=)
|
rs41737
|
0.34093
|
NM_000245.4(MET):c.4017G>A (p.Ala1339=)
|
rs2023748
|
0.34017
|
NM_201253.3(CRB1):c.71-12A>T
|
rs12042179
|
0.33853
|
NM_000245.4(MET):c.3858C>T (p.Asp1286=)
|
rs41736
|
0.33828
|
NM_000274.4(OAT):c.1134C>T (p.Asn378=)
|
rs11461
|
0.33660
|
NM_022124.6(CDH23):c.2060-176C>T
|
rs2290026
|
0.33636
|
NM_001098.3(ACO2):c.1032+17C>T
|
rs203319
|
0.33591
|
NM_019098.5(CNGB3):c.1481-145A>C
|
rs13258590
|
0.33289
|
NM_015404.4(WHRN):c.117G>A (p.Val39=)
|
rs2297815
|
0.33019
|
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)
|
rs2293869
|
0.33006
|
NM_001292063.2(OTOG):c.2561+10G>A
|
rs4756901
|
0.33002
|
NM_001854.4(COL11A1):c.2656-28T>C
|
rs1903787
|
0.32791
|
NM_005012.4(ROR1):c.1353A>G (p.Val451=)
|
rs6668545
|
0.32509
|
NM_002160.4(TNC):c.1867+31T>A
|
rs1617917
|
0.32336
|
NM_177972.3(TUB):c.360T>C (p.Gly120=)
|
rs4758289
|
0.32302
|
NM_001145809.2(MYH14):c.1114+13C>T
|
rs11666328
|
0.32285
|
NM_001292063.2(OTOG):c.2719G>A (p.Ala907Thr)
|
rs2355466
|
0.32233
|
NM_000440.3(PDE6A):c.1408-34A>G
|
rs2244836
|
0.31937
|
NM_014014.5(SNRNP200):c.5755-20A>G
|
rs3214063
|
0.31866
|
NM_017433.5(MYO3A):c.3597G>A (p.Glu1199=)
|
rs3740232
|
0.31670
|
NM_080680.3(COL11A2):c.877-4T>A
|
rs1799907
|
0.31476
|
NM_001199799.2(ILDR1):c.791C>G (p.Pro264Arg)
|
rs3915061
|
0.31231
|
NM_153676.4(USH1C):c.522-45del
|
rs5789990
|
0.31188
|
NM_015404.4(WHRN):c.964-21A>G
|
rs2274163
|
0.31128
|
NM_000096.4(CP):c.2286-15del
|
rs143522213
|
0.30978
|
NM_000541.5(SAG):c.1207G>A (p.Val403Ile)
|
rs1046974
|
0.30851
|
NM_000326.5(RLBP1):c.684+20C>T
|
rs950541
|
0.30776
|
NM_001614.5(ACTG1):c.930C>T (p.Ala310=)
|
rs1135989
|
0.30776
|
NM_001384474.1(LOXHD1):c.4530+25C>T
|
rs59252058
|
0.30760
|
NM_194248.3(OTOF):c.510-39C>T
|
rs884390
|
0.30697
|
NM_031220.4(PITPNM3):c.238G>A (p.Ala80Thr)
|
rs3809835
|
0.30670
|
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val)
|
rs1377016
|
0.30620
|
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=)
|
rs376270
|
0.30588
|
NM_001039876.3(SYNE4):c.225G>A (p.Pro75=)
|
rs2285424
|
0.30451
|
NM_153676.4(USH1C):c.580-27G>A
|
rs6486378
|
0.30297
|
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=)
|
rs10200693
|
0.30236
|
NM_014714.4(IFT140):c.2253T>C (p.Pro751=)
|
rs2076436
|
0.30184
|
NM_205861.3(DHDDS):c.757G>A (p.Val253Met)
|
rs3816539
|
0.30121
|
NM_001385125.1(OPN1SW):c.357A>C (p.Gly119=)
|
rs1799922
|
0.29989
|
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=)
|
rs13385188
|
0.29962
|
NM_017697.4(ESRP1):c.984C>T (p.Val328=)
|
rs1549466
|
0.29789
|
NM_001142800.2(EYS):c.6834+61T>G
|
rs66502009
|
0.29500
|
NM_153700.2(STRC):c.4842C>T (p.Phe1614=)
|
rs3097773
|
0.29444
|
NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=)
|
rs3732449
|
0.29156
|
NM_012478.4(WBP2):c.60-42C>T
|
rs936391
|
0.29127
|
NM_001098.3(ACO2):c.192A>C (p.Thr64=)
|
rs137831
|
0.29094
|
NM_001854.4(COL11A1):c.3168+41T>C
|
rs1012282
|
0.29091
|
NM_004568.6(SERPINB6):c.54G>A (p.Thr18=)
|
rs2236277
|
0.28827
|
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln)
|
rs4747194
|
0.28536
|
NM_001346022.3(USP45):c.1710A>G (p.Gly570=)
|
rs4504482
|
0.28479
|
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)
|
rs10466026
|
0.28442
|
NM_001195263.2(PDZD7):c.1934-55C>T
|
rs807020
|
0.28374
|
NM_001029883.3(PCARE):c.*27G>A
|
rs10182566
|
0.28227
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg)
|
rs4841399
|
0.28031
|
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=)
|
rs114505309
|
0.27986
|
NM_138393.4(REEP6):c.116-16C>T
|
rs12459408
|
0.27902
|
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu)
|
rs4747195
|
0.27841
|
NM_001376256.1(CRYM):c.325-12T>C
|
rs226045
|
0.27780
|
NM_000274.4(OAT):c.199+19C>T
|
rs10794058
|
0.27706
|
NM_000322.5(PRPH2):c.*13C>T
|
rs361524
|
0.27666
|
NM_022124.6(CDH23):c.6830-81G>A
|
rs7068357
|
0.27610
|
NM_014014.5(SNRNP200):c.5317C>T (p.Leu1773=)
|
rs772175
|
0.27589
|
NM_001142800.2(EYS):c.6078+68A>G
|
rs36133910
|
0.27370
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
NM_001384474.1(LOXHD1):c.2048-102A>G
|
rs1824682
|
0.27202
|
NM_001614.5(ACTG1):c.363+58G>A
|
rs9912409
|
0.27171
|
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn)
|
rs10999947
|
0.27136
|
NM_001346022.3(USP45):c.1562G>C (p.Arg521Thr)
|
rs41288947
|
0.26453
|
NM_022124.6(CDH23):c.1987-123G>A
|
rs1227087
|
0.26320
|
NM_001384474.1(LOXHD1):c.1654+69C>T
|
rs12606558
|
0.26319
|
NM_005012.4(ROR1):c.1553C>T (p.Thr518Met)
|
rs7527017
|
0.26086
|
NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=)
|
rs5973851
|
0.26004
|
NM_005422.4(TECTA):c.2256C>T (p.Ile752=)
|
rs10502247
|
0.25910
|
NM_001146079.2(CLDN14):c.243C>T (p.Arg81=)
|
rs219779
|
0.25678
|
NM_022124.6(CDH23):c.2059+79C>T
|
rs1227086
|
0.25536
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
NM_000260.4(MYO7A):c.6354+35G>A
|
rs3819170
|
0.25401
|
NM_001384474.1(LOXHD1):c.1135-70C>A
|
rs12608365
|
0.25114
|
NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro)
|
rs414352
|
0.25064
|
NM_138393.4(REEP6):c.518-29C>T
|
rs2292456
|
0.25032
|
NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln)
|
rs9461073
|
0.24950
|
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=)
|
rs11237123
|
0.24897
|
NM_004044.7(ATIC):c.1228-30A>G
|
rs13010249
|
0.24885
|
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser)
|
rs2372536
|
0.24863
|
NM_201548.5(CERKL):c.677+665G>T
|
rs7604902
|
0.24851
|
NM_000260.4(MYO7A):c.4442-113A>G
|
rs3781692
|
0.24810
|
NM_014714.4(IFT140):c.4041-44T>C
|
rs2076434
|
0.24775
|
NM_004086.3(COCH):c.*27A>T
|
rs13122
|
0.24742
|
NM_201253.3(CRB1):c.849-62T>G
|
rs1572514
|
0.24628
|
NM_006269.2(RP1):c.2615G>A (p.Arg872His)
|
rs444772
|
0.24558
|
NM_001349884.2(DRAM2):c.601-9A>G
|
rs325917
|
0.24497
|
NM_201548.5(CERKL):c.239-49T>C
|
rs6433924
|
0.24146
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
NM_001346022.3(USP45):c.199A>G (p.Lys67Glu)
|
rs7744845
|
0.23995
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_177398.4(LMX1A):c.349C>T (p.Leu117=)
|
rs10753668
|
0.23781
|
NM_153676.4(USH1C):c.579+61G>A
|
rs72870320
|
0.23593
|
NM_006343.3(MERTK):c.1296+28T>G
|
rs57297275
|
0.23549
|
NM_194248.3(OTOF):c.372A>G (p.Thr124=)
|
rs11687696
|
0.23539
|
NM_014714.4(IFT140):c.147+109G>A
|
rs7192480
|
0.23445
|
NM_015404.4(WHRN):c.1627-12G>A
|
rs2274160
|
0.23283
|
NM_144672.4(OTOA):c.3056-23C>T
|
rs201448090
|
0.23237
|
NM_001145809.2(MYH14):c.2355-17C>T
|
rs28482851
|
0.23202
|
NM_001191057.4(PDE1C):c.1782C>T (p.Ala594=)
|
rs2302450
|
0.23084
|
NM_201548.5(CERKL):c.239-12T>A
|
rs6433923
|
0.22971
|
NM_178857.6(RP1L1):c.5666A>T (p.Asp1889Val)
|
rs28446662
|
0.22939
|
NM_006343.3(MERTK):c.1494C>T (p.Asn498=)
|
rs3811634
|
0.22888
|
NM_006343.3(MERTK):c.1451-20G>A
|
rs3811633
|
0.22861
|
NM_004999.4(MYO6):c.2658+17C>T
|
rs2295936
|
0.22603
|
NM_004999.4(MYO6):c.*12C>T
|
rs12606
|
0.22544
|
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)
|
rs1799911
|
0.22509
|
NM_006017.3(PROM1):c.2582+43C>T
|
rs11725522
|
0.22440
|
NM_153700.2(STRC):c.4878C>G (p.Leu1626=)
|
rs12438025
|
0.22424
|
NM_153700.2(STRC):c.4845-13T>C
|
rs12437957
|
0.22423
|
NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=)
|
rs3171927
|
0.22368
|
NM_004044.7(ATIC):c.-59T>G
|
rs4535042
|
0.22285
|
NM_004183.4(BEST1):c.1410G>A (p.Thr470=)
|
rs149698
|
0.22214
|
NM_004568.6(SERPINB6):c.268A>G (p.Met90Val)
|
rs2295769
|
0.22197
|
NM_006343.3(MERTK):c.583+10C>T
|
rs11683694
|
0.22086
|
NM_153700.2(STRC):c.3893A>G (p.His1298Arg)
|
rs2920780
|
0.22075
|
NM_014053.4(FLVCR1):c.1593+9T>C
|
rs17019870
|
0.21623
|
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
|
rs446227
|
0.21425
|
NM_007348.4(ATF6):c.199A>G (p.Met67Val)
|
rs1058405
|
0.21366
|
NM_153676.4(USH1C):c.2340C>T (p.Val780=)
|
rs10832796
|
0.21080
|
NM_012478.4(WBP2):c.168+36T>C
|
rs936393
|
0.21034
|
NM_006269.2(RP1):c.5175A>G (p.Gln1725=)
|
rs441800
|
0.20759
|
NM_022124.6(CDH23):c.5503-44T>C
|
rs7068810
|
0.20565
|
NM_001201543.2(FAM161A):c.184-33G>A
|
rs11125896
|
0.20547
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala)
|
rs11004439
|
0.20535
|
NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=)
|
rs2293106
|
0.20517
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn)
|
rs13027171
|
0.20460
|
NM_000350.3(ABCA4):c.5715-25A>C
|
rs4147856
|
0.20432
|
NM_006017.3(PROM1):c.2281-6C>G
|
rs3815344
|
0.20394
|
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)
|
rs520805
|
0.20376
|
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=)
|
rs219780
|
0.20318
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000328.3(RPGR):c.2241+11T>C
|
rs4084271
|
0.20121
|
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)
|
rs8069344
|
0.20071
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro)
|
rs17704703
|
0.20017
|
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=)
|
rs10762480
|
0.19882
|
NM_001191057.4(PDE1C):c.1830T>C (p.Gly610=)
|
rs3213709
|
0.19854
|
NM_000350.3(ABCA4):c.5836-43C>A
|
rs2275031
|
0.19847
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_001292063.2(OTOG):c.8690G>C (p.Trp2897Ser)
|
rs11024357
|
0.19620
|
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584
|
0.19569
|
NM_015404.4(WHRN):c.1416+22A>T
|
rs4979386
|
0.19539
|
NM_000260.4(MYO7A):c.133-88C>T
|
rs12279716
|
0.19502
|
NM_001142800.2(EYS):c.3444-5C>T
|
rs9445051
|
0.19475
|
NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser)
|
rs3743171
|
0.19289
|
NM_144672.4(OTOA):c.179+27G>A
|
rs12445216
|
0.19188
|
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)
|
rs2274158
|
0.19185
|
NM_016239.4(MYO15A):c.9518-11T>C
|
rs62073604
|
0.19159
|
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=)
|
rs8077577
|
0.19129
|
NM_000260.4(MYO7A):c.6558+16G>A
|
rs883224
|
0.19125
|
NM_014714.4(IFT140):c.2919C>T (p.Ala973=)
|
rs2235640
|
0.19119
|
NM_001378457.1(DMXL2):c.1346-39A>G
|
rs12904173
|
0.18855
|
NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met)
|
rs17524906
|
0.18836
|
NM_001378457.1(DMXL2):c.5051+23G>A
|
rs17524750
|
0.18767
|
NM_002473.6(MYH9):c.1728+37_1728+44del
|
rs3842715
|
0.18442
|
NM_001039141.3(TRIOBP):c.-14C>G
|
rs12484441
|
0.18268
|
NM_001039348.3(EFEMP1):c.518-13A>G
|
rs3748959
|
0.18234
|
NM_000843.4(GRM6):c.2196G>A (p.Thr732=)
|
rs2071247
|
0.18181
|
NM_001127453.2(GSDME):c.405-15G>A
|
rs754553
|
0.18061
|
NM_178857.6(RP1L1):c.665A>C (p.His222Pro)
|
rs4388421
|
0.17875
|
NM_001256317.3(TMPRSS3):c.*2G>A
|
rs13047838
|
0.17560
|
NM_001384140.1(PCDH15):c.4671+1344A>C
|
rs11003863
|
0.17427
|
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val)
|
rs2269529
|
0.17342
|
NM_001127453.2(GSDME):c.489G>A (p.Thr163=)
|
rs754555
|
0.17320
|
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=)
|
rs2269530
|
0.17309
|
NM_001201543.2(FAM161A):c.1584-11G>A
|
rs17513666
|
0.17214
|
NM_022124.6(CDH23):c.3370-46T>C
|
rs3802712
|
0.17108
|
NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val)
|
rs17513722
|
0.17102
|
NM_000390.4(CHM):c.351A>G (p.Ala117=)
|
rs10217950
|
0.17011
|
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln)
|
rs34287852
|
0.16898
|
NM_005802.5(TOPORS):c.2319T>C (p.Ser773=)
|
rs10971019
|
0.16858
|
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala)
|
rs7539719
|
0.16805
|
NM_153676.4(USH1C):c.1414-34G>A
|
rs2237964
|
0.16591
|
NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val)
|
rs2839500
|
0.16545
|
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val)
|
rs17411795
|
0.16501
|
NM_203288.2(RP9):c.629A>G (p.Lys210Arg)
|
rs150987618
|
0.16255
|
NM_031885.5(BBS2):c.613-54C>G
|
rs4784675
|
0.16235
|
NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met)
|
rs11125895
|
0.16195
|
NM_001563.4(IMPG1):c.2132G>A (p.Arg711His)
|
rs3734313
|
0.16006
|
NM_000064.4(C3):c.912G>A (p.Arg304=)
|
rs2230201
|
0.15982
|
NM_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val)
|
rs17744093
|
0.15871
|
NM_000274.4(OAT):c.901-22T>C
|
rs17619406
|
0.15809
|
NM_001029883.3(PCARE):c.60G>A (p.Gln20=)
|
rs35929540
|
0.15707
|
NM_153700.2(STRC):c.3702G>A (p.Glu1234=)
|
rs62018890
|
0.15683
|
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=)
|
rs34253433
|
0.15556
|
NM_004700.4(KCNQ4):c.315-18C>T
|
rs13374844
|
0.15526
|
NM_002905.5(RDH5):c.569+47C>A
|
rs3138141
|
0.15450
|
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)
|
rs3812153
|
0.15428
|
NM_004700.4(KCNQ4):c.315-16C>T
|
rs13374845
|
0.15351
|
NM_001142966.3(GREB1L):c.5541T>C (p.Ser1847=)
|
rs17720074
|
0.15290
|
NM_002905.5(RDH5):c.423C>T (p.Ile141=)
|
rs3138142
|
0.15275
|
NM_022124.6(CDH23):c.9077+8G>A
|
rs11818398
|
0.15161
|
NM_201548.5(CERKL):c.242A>C (p.Asp81Ala)
|
rs61750041
|
0.15130
|
NM_001029883.3(PCARE):c.258G>A (p.Arg86=)
|
rs62132765
|
0.15123
|
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=)
|
rs10823829
|
0.15109
|
NM_001142800.2(EYS):c.2847-157A>G
|
rs58449017
|
0.14846
|
NM_001122769.3(LCA5):c.77A>C (p.Asp26Ala)
|
rs34068461
|
0.14840
|
NM_001039348.3(EFEMP1):c.81+20G>C
|
rs2277886
|
0.14821
|
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)
|
rs1065489
|
0.14779
|
NM_000186.4(CFH):c.2016A>G (p.Gln672=)
|
rs3753396
|
0.14639
|
NM_001384474.1(LOXHD1):c.-102G>A
|
rs34951935
|
0.14627
|
NM_022124.6(CDH23):c.5503-10A>G
|
rs2394839
|
0.14568
|
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile)
|
rs17712523
|
0.14536
|
NM_001145809.2(MYH14):c.2827-9A>C
|
rs3745503
|
0.14515
|
NM_080680.3(COL11A2):c.877-34C>T
|
rs116165521
|
0.14216
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln)
|
rs3802711
|
0.14136
|
NM_001854.4(COL11A1):c.275-7T>C
|
rs12136865
|
0.14046
|
NM_000064.4(C3):c.1836G>A (p.Thr612=)
|
rs2230205
|
0.13947
|
NM_022124.6(CDH23):c.4846-79G>A
|
rs41281328
|
0.13922
|
NM_016356.5(DCDC2):c.1017C>T (p.Val339=)
|
rs9467075
|
0.13584
|
NM_022124.6(CDH23):c.1290+217T>C
|
rs2305208
|
0.13525
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_022124.6(CDH23):c.3431-205A>C
|
rs12240855
|
0.12869
|
NM_022124.6(CDH23):c.3431-133T>C
|
rs12263420
|
0.12860
|
NM_001377295.2(GNAT2):c.-32A>G
|
rs2304355
|
0.12857
|
NM_031935.3(HMCN1):c.14266+17G>C
|
rs17531405
|
0.12803
|
NM_020461.4(TUBGCP6):c.4090A>T (p.Ser1364Cys)
|
rs5771107
|
0.12667
|
NM_001286445.3(RIPOR2):c.3043+9T>A
|
rs9379693
|
0.12477
|
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=)
|
rs10825114
|
0.12444
|
NM_153676.4(USH1C):c.2490+12G>C
|
rs2072232
|
0.12422
|
NM_000180.4(GUCY2D):c.2576+37G>T
|
rs12103471
|
0.12387
|
NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val)
|
rs11782670
|
0.12322
|
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)
|
rs7902757
|
0.12266
|
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)
|
rs17852293
|
0.12044
|
NM_007348.4(ATF6):c.105C>T (p.Leu35=)
|
rs2070151
|
0.11890
|
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
|
rs1801686
|
0.11812
|
NM_000260.4(MYO7A):c.736-47C>A
|
rs3737454
|
0.11805
|
NM_178857.6(RP1L1):c.6264G>T (p.Gln2088His)
|
rs11778341
|
0.11690
|
NM_007348.4(ATF6):c.309G>A (p.Ser103=)
|
rs2271012
|
0.11573
|
NM_020461.4(TUBGCP6):c.4821+20G>A
|
rs11912397
|
0.11469
|
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)
|
rs11000009
|
0.10990
|
NM_005422.4(TECTA):c.5634C>T (p.Ser1878=)
|
rs2155369
|
0.10906
|
NM_001142800.2(EYS):c.3906C>T (p.His1302=)
|
rs12663916
|
0.10887
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_001854.4(COL11A1):c.1998+4T>A
|
rs12136577
|
0.10860
|
NM_153676.4(USH1C):c.2381-46G>A
|
rs2072233
|
0.10738
|
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)
|
rs57312007
|
0.10595
|
NM_001142800.2(EYS):c.3568+99C>A
|
rs62415853
|
0.10485
|
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=)
|
rs6545910
|
0.10308
|
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=)
|
rs12662610
|
0.10143
|
NM_006017.3(PROM1):c.1003-35A>C
|
rs2286458
|
0.09908
|
NM_178857.6(RP1L1):c.610-13G>A
|
rs62490859
|
0.09888
|
NM_153676.4(USH1C):c.37-47G>T
|
rs2355022
|
0.09867
|
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)
|
rs62415828
|
0.09865
|
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=)
|
rs12663619
|
0.09859
|
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=)
|
rs62415825
|
0.09856
|
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val)
|
rs17403955
|
0.09853
|
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val)
|
rs17404123
|
0.09852
|
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu)
|
rs12663622
|
0.09847
|
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp)
|
rs62415827
|
0.09842
|
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)
|
rs62415826
|
0.09832
|
NM_153676.4(USH1C):c.2226+197G>A
|
rs12270644
|
0.09831
|
NM_153676.4(USH1C):c.521+56A>G
|
rs41282940
|
0.09720
|
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)
|
rs36086089
|
0.09592
|
NM_000260.4(MYO7A):c.1004-35C>G
|
rs2071151
|
0.09483
|
NM_001142800.2(EYS):c.862+87T>C
|
rs4710522
|
0.09325
|
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)
|
rs2086005
|
0.09206
|
NM_007348.4(ATF6):c.270T>C (p.Pro90=)
|
rs2271013
|
0.09194
|
NM_153676.4(USH1C):c.1086-12G>A
|
rs11024318
|
0.09048
|
NM_002160.4(TNC):c.4575G>A (p.Thr1525=)
|
rs17819466
|
0.09039
|
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys)
|
rs66462731
|
0.08861
|
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val)
|
rs41317507
|
0.08845
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_001164665.2(KIAA1549):c.2301T>C (p.Thr767=)
|
rs61746879
|
0.08707
|
NM_000186.4(CFH):c.*178T>A
|
rs488738
|
0.08528
|
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)
|
rs534399
|
0.08522
|
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)
|
rs2230517
|
0.08379
|
NM_001145026.2(PTPRQ):c.5943-6T>C
|
rs1528289
|
0.08370
|
NM_022124.6(CDH23):c.-1C>T
|
rs41281302
|
0.08269
|
NM_001142800.2(EYS):c.7723+64T>A
|
rs72886371
|
0.08145
|
NM_017433.5(MYO3A):c.624C>T (p.Asp208=)
|
rs35010955
|
0.08016
|
NM_022124.6(CDH23):c.7225-22C>T
|
rs3802708
|
0.07941
|
NM_001854.4(COL11A1):c.3025-23A>T
|
rs55682104
|
0.07912
|
NM_000539.3(RHO):c.696+4C>T
|
rs56340615
|
0.07633
|
NM_031885.5(BBS2):c.-40T>C
|
rs115078074
|
0.07623
|
NM_031885.5(BBS2):c.-42T>G
|
rs78076550
|
0.07623
|
NM_004700.4(KCNQ4):c.873G>A (p.Pro291=)
|
rs12117176
|
0.07614
|
NM_004700.4(KCNQ4):c.879A>G (p.Thr293=)
|
rs12143503
|
0.07598
|
NM_000245.4(MET):c.534C>T (p.Ser178=)
|
rs35775721
|
0.07211
|
NM_024009.3(GJB3):c.357C>T (p.Asn119=)
|
rs41310442
|
0.07121
|
NM_001384474.1(LOXHD1):c.5399+13G>A
|
rs59128481
|
0.07068
|
NM_201253.3(CRB1):c.*28T>C
|
rs41302107
|
0.07060
|
NM_001384474.1(LOXHD1):c.4740+21G>A
|
rs12604163
|
0.06997
|
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)
|
rs12606417
|
0.06993
|
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr)
|
rs6693069
|
0.06856
|
NM_002900.3(RBP3):c.-13C>T
|
rs41284964
|
0.06850
|
NM_017433.5(MYO3A):c.660C>T (p.Ala220=)
|
rs34067308
|
0.06790
|
NM_017433.5(MYO3A):c.586-28A>G
|
rs41314631
|
0.06787
|
NM_017433.5(MYO3A):c.731+20G>A
|
rs56210104
|
0.06778
|
NM_017433.5(MYO3A):c.586-29C>T
|
rs56077277
|
0.06743
|
NM_001145026.2(PTPRQ):c.6115+23_6115+24dup
|
rs10652830
|
0.06545
|
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)
|
rs515299
|
0.06393
|
NM_001252024.2(TRPM1):c.4560T>A (p.His1520Gln)
|
rs12898290
|
0.06327
|
NM_001252024.2(TRPM1):c.4189G>T (p.Glu1397Ter)
|
rs3784589
|
0.06326
|
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser)
|
rs33947968
|
0.06209
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_006343.3(MERTK):c.2916G>A (p.Ser972=)
|
rs10205793
|
0.06012
|
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)
|
rs10163657
|
0.05881
|
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val)
|
rs13265557
|
0.05793
|
NM_022367.4(SEMA4A):c.*37T>C
|
rs41265023
|
0.05725
|
NM_000260.4(MYO7A):c.4441+148A>G
|
rs4944149
|
0.05652
|
NM_145200.5(CABP4):c.800-5C>T
|
rs72934713
|
0.05627
|
NM_002160.4(TNC):c.5341G>A (p.Ala1781Thr)
|
rs2274750
|
0.05620
|
NM_022124.6(CDH23):c.625-93G>A
|
rs736717
|
0.05549
|
NM_017739.4(POMGNT1):c.1895+30A>G
|
rs113174528
|
0.05532
|
NM_001384474.1(LOXHD1):c.5878+60A>G
|
rs60852510
|
0.05517
|
NM_001164665.2(KIAA1549):c.2800G>A (p.Asp934Asn)
|
rs2150283
|
0.05297
|
NM_001164665.2(KIAA1549):c.2666G>T (p.Gly889Val)
|
rs2354336
|
0.05287
|
NM_001164665.2(KIAA1549):c.1940C>G (p.Ser647Cys)
|
rs61734132
|
0.05285
|
NM_153676.4(USH1C):c.2226+12C>T
|
rs17703528
|
0.05274
|
NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=)
|
rs2295912
|
0.05171
|
NM_019098.5(CNGB3):c.1179-38T>C
|
rs3735969
|
0.05147
|
NM_033641.4(COL4A6):c.4812+8C>T
|
rs73251797
|
0.05127
|
NM_153676.4(USH1C):c.2134-12T>C
|
rs76769358
|
0.04923
|
NM_000260.4(MYO7A):c.4441+89T>C
|
rs11237115
|
0.04804
|
NM_019098.5(CNGB3):c.211+13T>G
|
rs66881636
|
0.04794
|
NM_206933.4(USH2A):c.8681+120G>A
|
rs56301415
|
0.04758
|
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His)
|
rs74316327
|
0.04745
|
NM_000186.3(CFH):c.-195T>C
|
rs35836460
|
0.04685
|
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)
|
rs56053654
|
0.04404
|
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)
|
rs61635304
|
0.04389
|
NM_017739.4(POMGNT1):c.235+33T>G
|
rs41309197
|
0.04222
|
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)
|
rs1139406
|
0.04214
|
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=)
|
rs1139807
|
0.04188
|
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=)
|
rs11549223
|
0.04188
|
NM_001256789.3(CACNA1F):c.2673+3G>A
|
rs41312124
|
0.04106
|
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr)
|
rs79444516
|
0.04057
|
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=)
|
rs61745374
|
0.04046
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_006343.3(MERTK):c.61+19G>A
|
rs115821982
|
0.03962
|
NM_000260.4(MYO7A):c.4441+195G>A
|
rs4945157
|
0.03958
|
NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val)
|
rs34466065
|
0.03911
|
NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=)
|
rs55964611
|
0.03837
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334
|
0.03832
|
NM_031885.5(BBS2):c.718-34G>A
|
rs79900021
|
0.03789
|
NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser)
|
rs35179844
|
0.03732
|
NM_004700.4(KCNQ4):c.841T>C (p.Leu281=)
|
rs55737429
|
0.03713
|
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447
|
0.03706
|
NM_000328.3(RPGR):c.2149+46C>T
|
rs41312110
|
0.03703
|
NM_000186.4(CFH):c.1160-15T>C
|
rs34815383
|
0.03666
|
NM_002160.4(TNC):c.2389A>C (p.Arg797=)
|
rs16932195
|
0.03496
|
NM_153676.4(USH1C):c.1770C>T (p.Ala590=)
|
rs17776775
|
0.03494
|
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=)
|
rs35576281
|
0.03312
|
NM_206933.4(USH2A):c.4627+699C>A
|
rs59704861
|
0.03223
|
NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=)
|
rs55925184
|
0.03211
|
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)
|
rs41265017
|
0.03176
|
NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=)
|
rs34132805
|
0.03145
|
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=)
|
rs77026548
|
0.03129
|
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile)
|
rs34460141
|
0.03127
|
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)
|
rs12118814
|
0.03107
|
NM_000329.3(RPE65):c.1338+20A>C
|
rs12564647
|
0.03055
|
NM_000329.3(RPE65):c.643+22C>T
|
rs2274321
|
0.03055
|
NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro)
|
rs35363062
|
0.03050
|
NM_206933.4(USH2A):c.10836C>A (p.Val3612=)
|
rs61276761
|
0.02977
|
NM_022124.6(CDH23):c.2060-19C>G
|
rs2290024
|
0.02940
|
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser)
|
rs61731389
|
0.02908
|
NM_000096.4(CP):c.2554+17G>A
|
rs35593818
|
0.02896
|
NM_002160.4(TNC):c.2562C>T (p.Asp854=)
|
rs61739209
|
0.02872
|
NM_001252024.2(TRPM1):c.4201C>A (p.Pro1401Thr)
|
rs61734298
|
0.02860
|
NM_017739.4(POMGNT1):c.1111-23C>T
|
rs2292486
|
0.02728
|
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile)
|
rs58293393
|
0.02671
|
NM_001384474.1(LOXHD1):c.4531-19C>T
|
rs117403100
|
0.02599
|
NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile)
|
rs3738766
|
0.02487
|
NM_031935.3(HMCN1):c.11849-8A>C
|
rs78780269
|
0.02456
|
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=)
|
rs74134272
|
0.02399
|
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)
|
rs36024592
|
0.02382
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)
|
rs41304083
|
0.02229
|
NM_172364.5(CACNA2D4):c.2793-15G>A
|
rs147575839
|
0.02191
|
NM_172364.5(CACNA2D4):c.2746G>A (p.Asp916Asn)
|
rs62621429
|
0.02126
|
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)
|
rs35343172
|
0.02118
|
NM_002160.4(TNC):c.1813G>A (p.Val605Ile)
|
rs3827816
|
0.02047
|
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)
|
rs41281316
|
0.02047
|
NM_206933.4(USH2A):c.573A>G (p.Val191=)
|
rs73102592
|
0.02039
|
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His)
|
rs41277210
|
0.02015
|
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)
|
rs35274867
|
0.01982
|
NM_153700.2(STRC):c.3360T>C (p.Cys1120=)
|
rs56385906
|
0.01920
|
NM_001142800.2(EYS):c.2733T>C (p.Asn911=)
|
rs75634595
|
0.01917
|
NM_002160.4(TNC):c.2207A>G (p.Asp736Gly)
|
rs61735551
|
0.01898
|
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)
|
rs111033381
|
0.01895
|
NM_000186.4(CFH):c.*98C>T
|
rs35742764
|
0.01872
|
NM_001039348.3(EFEMP1):c.387A>G (p.Glu129=)
|
rs14282
|
0.01837
|
NM_153700.2(STRC):c.4035G>C (p.Leu1345=)
|
rs143345370
|
0.01824
|
NM_022124.6(CDH23):c.2424G>A (p.Gly808=)
|
rs76601590
|
0.01745
|
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=)
|
rs111033289
|
0.01726
|
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=)
|
rs12218559
|
0.01724
|
NM_002160.4(TNC):c.5193G>A (p.Arg1731=)
|
rs61265377
|
0.01721
|
NM_031935.3(HMCN1):c.57C>T (p.Ser19=)
|
rs114170176
|
0.01714
|
NM_206933.4(USH2A):c.5857+17A>C
|
rs74766738
|
0.01694
|
NM_201253.3(CRB1):c.2128+15A>C
|
rs75691013
|
0.01643
|
NM_002160.4(TNC):c.6006G>A (p.Leu2002=)
|
rs61736828
|
0.01597
|
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr)
|
rs35453854
|
0.01591
|
NM_000186.4(CFH):c.477T>C (p.Ser159=)
|
rs34940854
|
0.01586
|
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=)
|
rs2230158
|
0.01567
|
NM_001614.5(ACTG1):c.729C>T (p.Pro243=)
|
rs2230159
|
0.01563
|
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=)
|
rs111033472
|
0.01557
|
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln)
|
rs61738263
|
0.01534
|
NM_000186.4(CFH):c.245-7G>A
|
rs35814900
|
0.01519
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01517
|
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)
|
rs34589386
|
0.01503
|
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile)
|
rs12067376
|
0.01472
|
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=)
|
rs3737942
|
0.01470
|
NM_000186.4(CFH):c.1428A>G (p.Gln476=)
|
rs34399588
|
0.01440
|
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=)
|
rs56013136
|
0.01440
|
NM_000186.4(CFH):c.2236+8T>A
|
rs7537967
|
0.01429
|
NM_002160.4(TNC):c.6144G>A (p.Gly2048=)
|
rs79563958
|
0.01419
|
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=)
|
rs12087462
|
0.01418
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=)
|
rs41317491
|
0.01364
|
NM_002160.4(TNC):c.5745C>A (p.Thr1915=)
|
rs10118726
|
0.01360
|
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=)
|
rs72720910
|
0.01345
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_002160.4(TNC):c.3165C>T (p.Ala1055=)
|
rs3748172
|
0.01315
|
NM_033641.4(COL4A6):c.303T>C (p.Phe101=)
|
rs149820261
|
0.01271
|
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg)
|
rs78541701
|
0.01250
|
NM_031935.3(HMCN1):c.13313-4G>A
|
rs41317497
|
0.01218
|
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=)
|
rs16824983
|
0.01216
|
NM_206933.4(USH2A):c.5572+15G>A
|
rs17026052
|
0.01200
|
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu)
|
rs41302237
|
0.01191
|
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe)
|
rs12239296
|
0.01178
|
NM_001614.5(ACTG1):c.177G>A (p.Gln59=)
|
rs11549220
|
0.01161
|
NM_153700.2(STRC):c.4127+8C>T
|
rs2470137
|
0.01144
|
NM_206933.4(USH2A):c.7301-65C>T
|
rs41277204
|
0.01115
|
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=)
|
rs111033397
|
0.01111
|
NM_001614.5(ACTG1):c.124-14G>A
|
rs115307446
|
0.01103
|
NM_002160.4(TNC):c.2620A>G (p.Ile874Val)
|
rs61737743
|
0.01101
|
NM_002160.4(TNC):c.781G>A (p.Gly261Ser)
|
rs61736826
|
0.01088
|
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr)
|
rs149550536
|
0.01074
|
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser)
|
rs76381440
|
0.01066
|
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala)
|
rs79183244
|
0.01053
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_031935.3(HMCN1):c.7511C>A (p.Thr2504Lys)
|
rs76748242
|
0.01024
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr)
|
rs41317489
|
0.00992
|
NM_002160.4(TNC):c.1642G>A (p.Val548Met)
|
rs61729478
|
0.00984
|
NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp)
|
rs74136012
|
0.00984
|
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=)
|
rs111632670
|
0.00984
|
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=)
|
rs78250390
|
0.00976
|
NM_201253.3(CRB1):c.2677-8C>T
|
rs73071678
|
0.00970
|
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)
|
rs78253373
|
0.00962
|
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)
|
rs115884084
|
0.00956
|
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=)
|
rs57832192
|
0.00905
|
NM_031935.3(HMCN1):c.13040-3C>T
|
rs41317493
|
0.00895
|
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=)
|
rs75687673
|
0.00845
|
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp)
|
rs113447586
|
0.00830
|
NM_000186.4(CFH):c.2634C>T (p.His878=)
|
rs35292876
|
0.00829
|
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val)
|
rs79178888
|
0.00827
|
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser)
|
rs145388022
|
0.00827
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_206933.4(USH2A):c.8558+40C>A
|
rs55713064
|
0.00762
|
NM_000186.4(CFH):c.1159+19T>G
|
rs35695425
|
0.00756
|
NM_000186.4(CFH):c.3102T>C (p.Asn1034=)
|
rs34594237
|
0.00750
|
NM_033641.4(COL4A6):c.3139-4G>A
|
rs185777707
|
0.00750
|
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)
|
rs61753611
|
0.00740
|
NM_206933.4(USH2A):c.11048-15C>T
|
rs74141403
|
0.00740
|
NM_206933.4(USH2A):c.9959-11T>G
|
rs116150014
|
0.00724
|
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile)
|
rs75397806
|
0.00696
|
NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu)
|
rs139802816
|
0.00690
|
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=)
|
rs6660707
|
0.00683
|
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=)
|
rs115874887
|
0.00678
|
NM_031935.3(HMCN1):c.6029-11G>T
|
rs10911802
|
0.00678
|
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)
|
rs41281338
|
0.00677
|
NM_031935.3(HMCN1):c.6029-4T>C
|
rs10911803
|
0.00676
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
NM_031935.3(HMCN1):c.8757T>C (p.His2919=)
|
rs148188970
|
0.00653
|
NM_033641.4(COL4A6):c.4070-17C>T
|
rs141656095
|
0.00646
|
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser)
|
rs74967568
|
0.00644
|
NM_002160.4(TNC):c.637G>A (p.Gly213Ser)
|
rs7020958
|
0.00643
|
NM_022124.6(CDH23):c.8980-14C>A
|
rs45522532
|
0.00642
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00641
|
NM_002160.4(TNC):c.6482A>G (p.Asn2161Ser)
|
rs75198247
|
0.00615
|
NM_002764.4(PRPS1):c.477C>T (p.Ile159=)
|
rs61752962
|
0.00596
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met)
|
rs146418772
|
0.00555
|
NM_033641.4(COL4A6):c.286A>T (p.Met96Leu)
|
rs144792752
|
0.00553
|
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser)
|
rs41317471
|
0.00550
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=)
|
rs78576418
|
0.00545
|
NM_002160.4(TNC):c.75C>G (p.Leu25=)
|
rs62638691
|
0.00531
|
NM_033641.4(COL4A6):c.1125A>G (p.Glu375=)
|
rs142057815
|
0.00526
|
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln)
|
rs75161007
|
0.00507
|
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=)
|
rs12073994
|
0.00488
|
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)
|
rs111033378
|
0.00488
|
NM_153700.2(STRC):c.498G>A (p.Pro166=)
|
rs139848805
|
0.00486
|
NM_022367.4(SEMA4A):c.1434+12C>A
|
rs114835695
|
0.00483
|
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr)
|
rs114135070
|
0.00480
|
NM_206933.4(USH2A):c.5517G>A (p.Val1839=)
|
rs111033421
|
0.00479
|
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His)
|
rs74136049
|
0.00474
|
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=)
|
rs114051074
|
0.00463
|
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)
|
rs114629728
|
0.00449
|
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)
|
rs114364265
|
0.00448
|
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)
|
rs138332626
|
0.00444
|
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=)
|
rs144346158
|
0.00443
|
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly)
|
rs145086096
|
0.00442
|
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr)
|
rs115015305
|
0.00441
|
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg)
|
rs115039883
|
0.00438
|
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser)
|
rs116300191
|
0.00436
|
NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile)
|
rs143146797
|
0.00431
|
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met)
|
rs41280330
|
0.00428
|
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile)
|
rs34362004
|
0.00426
|
NM_002160.4(TNC):c.156C>T (p.His52=)
|
rs7038329
|
0.00426
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=)
|
rs111033505
|
0.00418
|
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)
|
rs111947397
|
0.00404
|
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=)
|
rs143866315
|
0.00404
|
NM_206933.4(USH2A):c.8937A>G (p.Val2979=)
|
rs139100097
|
0.00404
|
NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val)
|
rs75447909
|
0.00399
|
NM_002160.4(TNC):c.96G>A (p.Lys32=)
|
rs145367019
|
0.00396
|
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)
|
rs59174500
|
0.00394
|
NM_002160.4(TNC):c.1508G>A (p.Arg503Lys)
|
rs114407480
|
0.00393
|
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=)
|
rs56829872
|
0.00393
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met)
|
rs139870667
|
0.00379
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_001614.5(ACTG1):c.-6-3C>T
|
rs140724578
|
0.00374
|
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)
|
rs145199539
|
0.00372
|
NM_031935.3(HMCN1):c.12571G>A (p.Val4191Ile)
|
rs141096306
|
0.00371
|
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)
|
rs35810926
|
0.00369
|
NM_001256789.3(CACNA1F):c.2334+123G>C
|
rs185254714
|
0.00356
|
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=)
|
rs151284138
|
0.00356
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
0.00354
|
NM_002160.4(TNC):c.1719C>T (p.Cys573=)
|
rs141544394
|
0.00347
|
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=)
|
rs41317479
|
0.00347
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
|
rs149222801
|
0.00339
|
NM_031935.3(HMCN1):c.114G>T (p.Gly38=)
|
rs115169621
|
0.00337
|
NM_153700.2(STRC):c.3540T>G (p.Leu1180=)
|
rs199524735
|
0.00335
|
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=)
|
rs148467349
|
0.00333
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
NM_002160.4(TNC):c.3286G>A (p.Ala1096Thr)
|
rs138406927
|
0.00324
|
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn)
|
rs74136061
|
0.00324
|
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val)
|
rs114270813
|
0.00309
|
NM_002160.4(TNC):c.6499G>A (p.Val2167Ile)
|
rs149752009
|
0.00299
|
NM_033641.4(COL4A6):c.528T>G (p.Pro176=)
|
rs12390371
|
0.00296
|
NM_031935.3(HMCN1):c.12771T>C (p.His4257=)
|
rs115171363
|
0.00295
|
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser)
|
rs60502467
|
0.00295
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=)
|
rs151256828
|
0.00293
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
NM_001614.5(ACTG1):c.714G>A (p.Lys238=)
|
rs11549173
|
0.00287
|
NM_001614.5(ACTG1):c.780G>A (p.Ala260=)
|
rs140846345
|
0.00287
|
NM_020366.4(RPGRIP1):c.218+13C>G
|
rs200225522
|
0.00279
|
NM_002160.4(TNC):c.4740C>T (p.Thr1580=)
|
rs146504512
|
0.00277
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr)
|
rs147883884
|
0.00275
|
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)
|
rs139822086
|
0.00273
|
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=)
|
rs144191448
|
0.00272
|
NM_000186.4(CFH):c.428-14T>C
|
rs184188486
|
0.00271
|
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
|
rs113347629
|
0.00269
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_001614.5(ACTG1):c.471C>T (p.Asp157=)
|
rs11549222
|
0.00264
|
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr)
|
rs147039836
|
0.00260
|
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn)
|
rs114669703
|
0.00259
|
NM_031935.3(HMCN1):c.13313-5C>T
|
rs184095385
|
0.00253
|
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys)
|
rs147900972
|
0.00249
|
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)
|
rs148556640
|
0.00247
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)
|
rs145896974
|
0.00240
|
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp)
|
rs41317483
|
0.00239
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_031935.3(HMCN1):c.4475+9C>A
|
rs111694556
|
0.00229
|
NM_002160.4(TNC):c.945C>T (p.Cys315=)
|
rs148465701
|
0.00226
|
NM_031935.3(HMCN1):c.15256+4A>T
|
rs184102616
|
0.00225
|
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)
|
rs189541861
|
0.00222
|
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=)
|
rs141581919
|
0.00222
|
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)
|
rs62641697
|
0.00219
|
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)
|
rs140493567
|
0.00218
|
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His)
|
rs143624066
|
0.00217
|
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)
|
rs111033498
|
0.00214
|
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=)
|
rs78613732
|
0.00210
|
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)
|
rs62636287
|
0.00208
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_004700.4(KCNQ4):c.1292+12G>A
|
rs200426006
|
0.00200
|
NM_001614.5(ACTG1):c.684C>T (p.Ala228=)
|
rs143125497
|
0.00195
|
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg)
|
rs35856562
|
0.00193
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=)
|
rs144145420
|
0.00192
|
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=)
|
rs144776594
|
0.00191
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)
|
rs185667326
|
0.00183
|
NM_001256789.3(CACNA1F):c.3439-18C>T
|
rs199764042
|
0.00179
|
NM_001614.5(ACTG1):c.985-5T>C
|
rs370546734
|
0.00176
|
NM_002160.4(TNC):c.1322A>G (p.Asn441Ser)
|
rs142220270
|
0.00174
|
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln)
|
rs2075164
|
0.00170
|
NM_001614.5(ACTG1):c.803-6C>T
|
rs199600452
|
0.00164
|
NM_002160.4(TNC):c.628G>A (p.Gly210Ser)
|
rs144032672
|
0.00159
|
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=)
|
rs143271285
|
0.00156
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys)
|
rs199809248
|
0.00153
|
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala)
|
rs148135241
|
0.00152
|
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=)
|
rs139372880
|
0.00149
|
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=)
|
rs144803723
|
0.00149
|
NM_033641.4(COL4A6):c.2400C>A (p.Gly800=)
|
rs60172559
|
0.00145
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
NM_031935.3(HMCN1):c.2372-3C>T
|
rs186546131
|
0.00139
|
NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=)
|
rs149715446
|
0.00130
|
NM_000186.4(CFH):c.1707C>T (p.Cys569=)
|
rs144976181
|
0.00129
|
NM_206933.4(USH2A):c.2167+17A>G
|
rs181777364
|
0.00129
|
NM_001614.5(ACTG1):c.18C>T (p.Ala6=)
|
rs145211830
|
0.00128
|
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)
|
rs186266220
|
0.00127
|
NM_002160.4(TNC):c.61G>A (p.Glu21Lys)
|
rs141126037
|
0.00125
|
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)
|
rs200770543
|
0.00124
|
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)
|
rs151092557
|
0.00122
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
NM_206933.4(USH2A):c.6486-18G>A
|
rs370809079
|
0.00118
|
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)
|
rs114473792
|
0.00116
|
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=)
|
rs146945932
|
0.00115
|
NM_002160.4(TNC):c.3711G>A (p.Gly1237=)
|
rs139931208
|
0.00115
|
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys)
|
rs139490011
|
0.00113
|
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=)
|
rs142456335
|
0.00112
|
NM_153700.2(STRC):c.4917A>C (p.Leu1639=)
|
rs2860666
|
0.00112
|
NM_206933.4(USH2A):c.2094C>T (p.Thr698=)
|
rs141489104
|
0.00112
|
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp)
|
rs147995526
|
0.00111
|
NM_031935.3(HMCN1):c.865G>A (p.Val289Met)
|
rs144384070
|
0.00108
|
NM_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=)
|
rs143659814
|
0.00106
|
NM_001614.5(ACTG1):c.531T>C (p.Arg177=)
|
rs143851458
|
0.00106
|
NM_000186.4(CFH):c.1935G>T (p.Thr645=)
|
rs56035657
|
0.00105
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu)
|
rs139835231
|
0.00103
|
NM_004700.4(KCNQ4):c.1986C>G (p.Pro662=)
|
rs191631836
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_002160.4(TNC):c.2490C>T (p.Ile830=)
|
rs145321605
|
0.00102
|
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=)
|
rs142864872
|
0.00101
|
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=)
|
rs140049629
|
0.00100
|
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His)
|
rs148929548
|
0.00100
|
NM_002160.4(TNC):c.5223G>A (p.Arg1741=)
|
rs62638694
|
0.00098
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00097
|
NM_031935.3(HMCN1):c.2212+8T>G
|
rs183165464
|
0.00095
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu)
|
rs146532107
|
0.00091
|
NM_031935.3(HMCN1):c.5851+10del
|
rs375820274
|
0.00091
|
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln)
|
rs146510405
|
0.00091
|
NM_033641.4(COL4A6):c.3138+17C>T
|
rs369016527
|
0.00090
|
NM_022367.4(SEMA4A):c.1670G>A (p.Arg557Gln)
|
rs137997761
|
0.00088
|
NM_001614.5(ACTG1):c.39C>T (p.Gly13=)
|
rs146865914
|
0.00087
|
NM_019098.5(CNGB3):c.*125G>C
|
rs186370374
|
0.00087
|
NM_033641.4(COL4A6):c.432C>T (p.Leu144=)
|
rs2295920
|
0.00086
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
NM_004700.4(KCNQ4):c.972G>A (p.Leu324=)
|
rs137896524
|
0.00085
|
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln)
|
rs727503449
|
0.00085
|
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)
|
rs372615343
|
0.00084
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_033641.4(COL4A6):c.1431C>T (p.Asp477=)
|
rs139740946
|
0.00083
|
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=)
|
rs145129529
|
0.00082
|
NM_031935.3(HMCN1):c.13231-4A>G
|
rs191690433
|
0.00081
|
NM_031935.3(HMCN1):c.15440-13C>T
|
rs12034495
|
0.00081
|
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=)
|
rs150286388
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_001614.5(ACTG1):c.877C>T (p.Leu293=)
|
rs143205514
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser)
|
rs200657688
|
0.00077
|
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln)
|
rs142508831
|
0.00077
|
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)
|
rs181758389
|
0.00076
|
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn)
|
rs61732179
|
0.00076
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu)
|
rs199590641
|
0.00073
|
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=)
|
rs146867591
|
0.00070
|
NM_206933.4(USH2A):c.5409C>G (p.Val1803=)
|
rs140326085
|
0.00070
|
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=)
|
rs147037435
|
0.00067
|
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=)
|
rs143546878
|
0.00064
|
NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=)
|
rs2294464
|
0.00063
|
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala)
|
rs148744804
|
0.00062
|
NM_001614.5(ACTG1):c.363+5G>A
|
rs116329164
|
0.00061
|
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val)
|
rs150618921
|
0.00061
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His)
|
rs147769095
|
0.00060
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val)
|
rs144649977
|
0.00057
|
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=)
|
rs149570469
|
0.00057
|
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg)
|
rs150734874
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_001614.5(ACTG1):c.1017G>C (p.Val339=)
|
rs111305526
|
0.00053
|
NM_001614.5(ACTG1):c.774G>A (p.Pro258=)
|
rs61997068
|
0.00053
|
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)
|
rs201838837
|
0.00053
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=)
|
rs200268506
|
0.00051
|
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val)
|
rs137853911
|
0.00051
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
NM_206933.4(USH2A):c.10741-8G>A
|
rs369968349
|
0.00051
|
NM_206933.4(USH2A):c.785-16_785-15del
|
rs150209313
|
0.00051
|
NM_000186.4(CFH):c.2509G>A (p.Val837Ile)
|
rs55807605
|
0.00050
|
NM_000186.4(CFH):c.2637A>G (p.Gly879=)
|
rs55752475
|
0.00050
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_206933.4(USH2A):c.8805C>T (p.Val2935=)
|
rs111033534
|
0.00049
|
NM_001614.5(ACTG1):c.105C>T (p.Val35=)
|
rs11549193
|
0.00048
|
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr)
|
rs143665535
|
0.00048
|
NM_206933.4(USH2A):c.9258+15T>C
|
rs181894778
|
0.00047
|
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln)
|
rs145398864
|
0.00046
|
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys)
|
rs34692227
|
0.00046
|
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe)
|
rs140559544
|
0.00046
|
NM_033641.4(COL4A6):c.1533A>G (p.Lys511=)
|
rs139333183
|
0.00046
|
NM_001614.5(ACTG1):c.66T>G (p.Ala22=)
|
rs149682185
|
0.00045
|
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr)
|
rs150226500
|
0.00044
|
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)
|
rs140648074
|
0.00044
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)
|
rs148165372
|
0.00042
|
NM_020366.4(RPGRIP1):c.1078-9C>A
|
rs371312060
|
0.00042
|
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr)
|
rs35548413
|
0.00041
|
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=)
|
rs144810195
|
0.00041
|
NM_004700.4(KCNQ4):c.946-12C>G
|
rs146802754
|
0.00041
|
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter)
|
rs576724182
|
0.00041
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)
|
rs529491401
|
0.00039
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
|
rs112273610
|
0.00039
|
NM_000186.4(CFH):c.245-8C>T
|
rs537160602
|
0.00038
|
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val)
|
rs145889775
|
0.00038
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
NM_000186.4(CFH):c.1111C>A (p.His371Asn)
|
rs145650378
|
0.00036
|
NM_000186.4(CFH):c.3133+8G>T
|
rs142718541
|
0.00036
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro)
|
rs148265876
|
0.00036
|
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=)
|
rs145742052
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_000441.2(SLC26A4):c.*51T>C
|
rs371263685
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=)
|
rs138776748
|
0.00033
|
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln)
|
rs201563661
|
0.00033
|
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met)
|
rs201628935
|
0.00033
|
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)
|
rs142902005
|
0.00032
|
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys)
|
rs199933282
|
0.00032
|
NM_033641.4(COL4A6):c.3809-14G>A
|
rs192754010
|
0.00032
|
NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=)
|
rs147362613
|
0.00032
|
NC_000007.14:g.107660670A>T
|
rs111033440
|
0.00031
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr)
|
rs184926375
|
0.00031
|
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val)
|
rs145595000
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg)
|
rs375226924
|
0.00030
|
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln)
|
rs140296295
|
0.00030
|
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=)
|
rs41305094
|
0.00030
|
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)
|
rs55679475
|
0.00029
|
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)
|
rs55771831
|
0.00029
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln)
|
rs138816005
|
0.00029
|
NM_001614.5(ACTG1):c.126C>T (p.Gly42=)
|
rs11549197
|
0.00029
|
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)
|
rs368434311
|
0.00029
|
NM_031935.3(HMCN1):c.10989+5A>G
|
rs200045422
|
0.00029
|
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg)
|
rs147296385
|
0.00029
|
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)
|
rs201609001
|
0.00029
|
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=)
|
rs12046787
|
0.00028
|
NM_001614.5(ACTG1):c.1113C>T (p.His371=)
|
rs117765323
|
0.00028
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro)
|
rs373385518
|
0.00026
|
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln)
|
rs374078257
|
0.00026
|
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met)
|
rs147851396
|
0.00026
|
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)
|
rs137963595
|
0.00026
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00026
|
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)
|
rs62625015
|
0.00025
|
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=)
|
rs144434662
|
0.00025
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)
|
rs62636263
|
0.00025
|
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly)
|
rs146569216
|
0.00025
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)
|
rs190490019
|
0.00024
|
NM_206933.4(USH2A):c.13563T>C (p.Pro4521=)
|
rs139701970
|
0.00024
|
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=)
|
rs397518016
|
0.00024
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001614.5(ACTG1):c.546C>T (p.Gly182=)
|
rs61997063
|
0.00023
|
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=)
|
rs568177070
|
0.00023
|
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg)
|
rs200401966
|
0.00023
|
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala)
|
rs144029476
|
0.00022
|
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys)
|
rs140983855
|
0.00022
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00022
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_001614.5(ACTG1):c.345C>T (p.Asn115=)
|
rs149057480
|
0.00021
|
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln)
|
rs201191634
|
0.00021
|
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)
|
rs115400822
|
0.00021
|
NM_206933.4(USH2A):c.1550+10T>C
|
rs200728788
|
0.00021
|
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)
|
rs201710470
|
0.00021
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00021
|
NM_206933.4(USH2A):c.6325+13G>A
|
rs368490585
|
0.00021
|
NM_206933.4(USH2A):c.7491G>T (p.Val2497=)
|
rs142143100
|
0.00021
|
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)
|
rs150860491
|
0.00020
|
NM_031935.3(HMCN1):c.36G>C (p.Leu12=)
|
rs76631922
|
0.00020
|
NM_033641.4(COL4A6):c.1922C>T (p.Pro641Leu)
|
rs140900431
|
0.00020
|
NM_206933.4(USH2A):c.10062G>C (p.Val3354=)
|
rs200172376
|
0.00020
|
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)
|
rs200372118
|
0.00020
|
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)
|
rs201671665
|
0.00019
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=)
|
rs139751304
|
0.00019
|
NM_022367.4(SEMA4A):c.426C>T (p.Cys142=)
|
rs371685429
|
0.00019
|
NM_031935.3(HMCN1):c.861G>A (p.Val287=)
|
rs138455877
|
0.00019
|
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)
|
rs142857810
|
0.00019
|
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr)
|
rs200469148
|
0.00019
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala)
|
rs138440972
|
0.00018
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00018
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
NC_000007.14:g.107660720C>T
|
rs879914861
|
0.00017
|
NM_000186.4(CFH):c.2675C>T (p.Ala892Val)
|
rs151068461
|
0.00017
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser)
|
rs376910631
|
0.00017
|
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser)
|
rs199920138
|
0.00017
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
NM_001614.5(ACTG1):c.978G>A (p.Lys326=)
|
rs139339869
|
0.00016
|
NM_002160.4(TNC):c.2120G>C (p.Arg707Thr)
|
rs146640511
|
0.00016
|
NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr)
|
rs142453905
|
0.00016
|
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=)
|
rs147751558
|
0.00016
|
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His)
|
rs376250340
|
0.00016
|
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly)
|
rs372401651
|
0.00016
|
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys)
|
rs149594098
|
0.00016
|
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn)
|
rs139899015
|
0.00016
|
NM_031935.3(HMCN1):c.9888-5C>T
|
rs142970299
|
0.00016
|
NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys)
|
rs376450994
|
0.00016
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=)
|
rs200247886
|
0.00016
|
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr)
|
rs577389392
|
0.00016
|
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala)
|
rs113786363
|
0.00016
|
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile)
|
rs200642597
|
0.00015
|
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val)
|
rs781513060
|
0.00015
|
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met)
|
rs140990615
|
0.00015
|
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln)
|
rs541275063
|
0.00015
|
NM_000186.4(CFH):c.472G>A (p.Val158Ile)
|
rs141852866
|
0.00014
|
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=)
|
rs140904308
|
0.00014
|
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro)
|
rs199982906
|
0.00014
|
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys)
|
rs199574143
|
0.00014
|
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His)
|
rs41317505
|
0.00014
|
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe)
|
rs188107197
|
0.00014
|
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu)
|
rs76432158
|
0.00014
|
NM_153700.2(STRC):c.3307-5T>G
|
rs727503446
|
0.00014
|
NM_153700.2(STRC):c.3555G>A (p.Leu1185=)
|
rs2597064
|
0.00014
|
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
NM_206933.4(USH2A):c.127G>A (p.Val43Met)
|
rs147421006
|
0.00014
|
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys)
|
rs144543286
|
0.00014
|
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=)
|
rs397517997
|
0.00014
|
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
|
rs200289497
|
0.00014
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser)
|
rs148136966
|
0.00014
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
NM_000186.4(CFH):c.388G>A (p.Asp130Asn)
|
rs147002633
|
0.00013
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_033641.4(COL4A6):c.835-6A>G
|
rs189915873
|
0.00013
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr)
|
rs146980351
|
0.00013
|
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=)
|
rs148975669
|
0.00013
|
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654
|
0.00013
|
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
|
rs376314751
|
0.00013
|
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr)
|
rs144112891
|
0.00013
|
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met)
|
rs370988961
|
0.00013
|
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)
|
rs111033527
|
0.00012
|
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly)
|
rs200325360
|
0.00012
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_206933.4(USH2A):c.1623G>A (p.Glu541=)
|
rs146805130
|
0.00012
|
NM_206933.4(USH2A):c.6387A>G (p.Thr2129=)
|
rs150282853
|
0.00012
|
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=)
|
rs369778429
|
0.00012
|
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)
|
rs62641696
|
0.00011
|
NM_000186.4(CFH):c.476G>A (p.Ser159Asn)
|
rs370640334
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu)
|
rs543867152
|
0.00011
|
NM_020366.4(RPGRIP1):c.491-3T>C
|
rs749376395
|
0.00011
|
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)
|
rs371762530
|
0.00011
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser)
|
rs757430423
|
0.00011
|
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His)
|
rs147974906
|
0.00011
|
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=)
|
rs368757349
|
0.00011
|
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln)
|
rs202206115
|
0.00011
|
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)
|
rs774312182
|
0.00011
|
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)
|
rs377480477
|
0.00011
|
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)
|
rs779451259
|
0.00011
|
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)
|
rs111761880
|
0.00011
|
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)
|
rs147842359
|
0.00011
|
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=)
|
rs200287425
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
|
rs369806765
|
0.00011
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
NM_206933.4(USH2A):c.2633G>A (p.Arg878His)
|
rs200124505
|
0.00011
|
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)
|
rs141339026
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)
|
rs188093326
|
0.00011
|
NM_000186.4(CFH):c.2461C>T (p.His821Tyr)
|
rs367687415
|
0.00010
|
NM_000186.4(CFH):c.332T>A (p.Val111Glu)
|
rs576819823
|
0.00010
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)
|
rs138462416
|
0.00010
|
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=)
|
rs140945833
|
0.00010
|
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)
|
rs188318743
|
0.00010
|
NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln)
|
rs140641844
|
0.00010
|
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu)
|
rs372803002
|
0.00010
|
NM_153700.2(STRC):c.4845C>T (p.Ser1615=)
|
rs184909019
|
0.00010
|
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)
|
rs62636284
|
0.00010
|
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)
|
rs371987720
|
0.00010
|
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=)
|
rs141528682
|
0.00010
|
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)
|
rs143898511
|
0.00010
|
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)
|
rs139799843
|
0.00010
|
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe)
|
rs145148501
|
0.00010
|
NM_206933.4(USH2A):c.6958-5C>T
|
rs147914083
|
0.00010
|
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His)
|
rs368681648
|
0.00010
|
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr)
|
rs760777446
|
0.00010
|
NM_000186.4(CFH):c.3318A>G (p.Thr1106=)
|
rs1137971
|
0.00009
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val)
|
rs201709908
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe)
|
rs61754627
|
0.00009
|
NM_001614.5(ACTG1):c.45C>T (p.Gly15=)
|
rs145574149
|
0.00009
|
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=)
|
rs141964376
|
0.00009
|
NM_001614.5(ACTG1):c.954C>T (p.Thr318=)
|
rs3211110
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu)
|
rs775420649
|
0.00009
|
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=)
|
rs552843990
|
0.00009
|
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser)
|
rs77460954
|
0.00009
|
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser)
|
rs143393655
|
0.00009
|
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr)
|
rs199945360
|
0.00009
|
NM_201253.3(CRB1):c.1305A>T (p.Gly435=)
|
rs34813822
|
0.00009
|
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser)
|
rs138667698
|
0.00009
|
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr)
|
rs372327495
|
0.00009
|
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=)
|
rs369335995
|
0.00009
|
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys)
|
rs777874309
|
0.00009
|
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu)
|
rs140955723
|
0.00009
|
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
|
rs367693972
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
|
rs139089840
|
0.00009
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=)
|
rs138064171
|
0.00009
|
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=)
|
rs143683292
|
0.00009
|
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)
|
rs758332732
|
0.00008
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_001614.5(ACTG1):c.486G>A (p.Thr162=)
|
rs782442814
|
0.00008
|
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly)
|
rs373515194
|
0.00008
|
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val)
|
rs752692827
|
0.00008
|
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr)
|
rs754660196
|
0.00008
|
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile)
|
rs201176937
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser)
|
rs796610671
|
0.00008
|
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)
|
rs371201450
|
0.00008
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
|
rs748137104
|
0.00008
|
NM_000186.4(CFH):c.350+9T>C
|
rs201686629
|
0.00007
|
NM_001614.5(ACTG1):c.364-10C>T
|
rs200552253
|
0.00007
|
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr)
|
rs200053059
|
0.00007
|
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln)
|
rs377376107
|
0.00007
|
NM_022367.4(SEMA4A):c.1991C>T (p.Pro664Leu)
|
rs200251591
|
0.00007
|
NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu)
|
rs201943133
|
0.00007
|
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu)
|
rs146636123
|
0.00007
|
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr)
|
rs184081240
|
0.00007
|
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp)
|
rs371095992
|
0.00007
|
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly)
|
rs776783939
|
0.00007
|
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile)
|
rs769706639
|
0.00007
|
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His)
|
rs370518238
|
0.00007
|
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys)
|
rs41317477
|
0.00007
|
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala)
|
rs201878929
|
0.00007
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)
|
rs727503444
|
0.00007
|
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala)
|
rs533227950
|
0.00007
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)
|
rs201630132
|
0.00007
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn)
|
rs778199517
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His)
|
rs140845899
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=)
|
rs777803742
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NM_000186.4(CFH):c.1922T>C (p.Val641Ala)
|
rs371768180
|
0.00006
|
NM_000186.4(CFH):c.2056+16T>C
|
rs777352172
|
0.00006
|
NM_000186.4(CFH):c.2195C>T (p.Thr732Met)
|
rs201360629
|
0.00006
|
NM_000186.4(CFH):c.245-17T>A
|
rs775088366
|
0.00006
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00006
|
NM_000329.3(RPE65):c.1238G>A (p.Arg413His)
|
rs200950327
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)
|
rs372116042
|
0.00006
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00006
|
NM_001614.5(ACTG1):c.165C>T (p.Gly55=)
|
rs146402466
|
0.00006
|
NM_001614.5(ACTG1):c.363+7C>G
|
rs782205549
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp)
|
rs752658856
|
0.00006
|
NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe)
|
rs367899074
|
0.00006
|
NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg)
|
rs372226099
|
0.00006
|
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)
|
rs201384449
|
0.00006
|
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys)
|
rs771795434
|
0.00006
|
NM_022367.4(SEMA4A):c.1265C>T (p.Thr422Ile)
|
rs145228550
|
0.00006
|
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr)
|
rs747089050
|
0.00006
|
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr)
|
rs747405345
|
0.00006
|
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=)
|
rs144621380
|
0.00006
|
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn)
|
rs200601125
|
0.00006
|
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val)
|
rs371177035
|
0.00006
|
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp)
|
rs376132541
|
0.00006
|
NM_033641.4(COL4A6):c.672A>G (p.Gly224=)
|
rs762112922
|
0.00006
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)
|
rs147717802
|
0.00006
|
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn)
|
rs937362854
|
0.00006
|
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)
|
rs764256655
|
0.00006
|
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp)
|
rs150617613
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly)
|
rs1426369789
|
0.00006
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
0.00006
|
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)
|
rs202172029
|
0.00006
|
NM_206933.4(USH2A):c.12624C>T (p.Asp4208=)
|
rs375223901
|
0.00006
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
|
rs753823008
|
0.00006
|
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr)
|
rs145719886
|
0.00006
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00006
|
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)
|
rs139847770
|
0.00006
|
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)
|
rs375429745
|
0.00006
|
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
|
rs567937233
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.4886-12C>T
|
rs199823130
|
0.00006
|
NM_206933.4(USH2A):c.5496G>A (p.Val1832=)
|
rs146585940
|
0.00006
|
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=)
|
rs41277216
|
0.00006
|
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln)
|
rs200348779
|
0.00006
|
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val)
|
rs773405046
|
0.00006
|
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser)
|
rs756041909
|
0.00006
|
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=)
|
rs200876799
|
0.00006
|
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys)
|
rs374409616
|
0.00006
|
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys)
|
rs375278546
|
0.00006
|
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=)
|
rs147615382
|
0.00006
|
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00006
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00006
|
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)
|
rs199885325
|
0.00006
|
NM_206933.4(USH2A):c.9816G>A (p.Pro3272=)
|
rs745566865
|
0.00006
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
NM_000186.4(CFH):c.2085T>A (p.Pro695=)
|
rs777482186
|
0.00005
|
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile)
|
rs757426928
|
0.00005
|
NM_000186.4(CFH):c.59-16T>C
|
rs201067374
|
0.00005
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)
|
rs752990312
|
0.00005
|
NM_000441.2(SLC26A4):c.415+4A>G
|
rs368280107
|
0.00005
|
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile)
|
rs200784596
|
0.00005
|
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln)
|
rs546893082
|
0.00005
|
NM_001614.5(ACTG1):c.735C>T (p.Gly245=)
|
rs186289501
|
0.00005
|
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly)
|
rs773975779
|
0.00005
|
NM_004700.4(KCNQ4):c.1342C>T (p.Arg448Trp)
|
rs535365858
|
0.00005
|
NM_004700.4(KCNQ4):c.1499G>A (p.Arg500His)
|
rs201025485
|
0.00005
|
NM_014249.4(NR2E3):c.1096G>A (p.Val366Met)
|
rs150971548
|
0.00005
|
NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro)
|
rs368854370
|
0.00005
|
NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met)
|
rs1045906206
|
0.00005
|
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met)
|
rs146247104
|
0.00005
|
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg)
|
rs770537331
|
0.00005
|
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met)
|
rs553018813
|
0.00005
|
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys)
|
rs370251638
|
0.00005
|
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile)
|
rs147722917
|
0.00005
|
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)
|
rs727503447
|
0.00005
|
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=)
|
rs753331276
|
0.00005
|
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe)
|
rs148240351
|
0.00005
|
NM_206933.4(USH2A):c.11390-10C>T
|
rs750110818
|
0.00005
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg)
|
rs201864716
|
0.00005
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
NM_206933.4(USH2A):c.14904C>T (p.Asp4968=)
|
rs151165599
|
0.00005
|
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)
|
rs41313732
|
0.00005
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
0.00005
|
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)
|
rs145383772
|
0.00005
|
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His)
|
rs777618162
|
0.00005
|
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile)
|
rs142649882
|
0.00005
|
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn)
|
rs752859825
|
0.00004
|
NM_000186.4(CFH):c.2236+18A>G
|
rs749643506
|
0.00004
|
NM_000186.4(CFH):c.2957-15T>C
|
rs756514818
|
0.00004
|
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)
|
rs11539862
|
0.00004
|
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)
|
rs777300338
|
0.00004
|
NM_000186.4(CFH):c.565G>A (p.Glu189Lys)
|
rs121913054
|
0.00004
|
NM_000186.4(CFH):c.764G>A (p.Gly255Glu)
|
rs771112278
|
0.00004
|
NM_000186.4(CFH):c.807T>C (p.Asn269=)
|
rs757654697
|
0.00004
|
NM_000186.4(CFH):c.964+18C>A
|
rs1258420173
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)
|
rs770111708
|
0.00004
|
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
|
rs772040483
|
0.00004
|
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)
|
rs745308973
|
0.00004
|
NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu)
|
rs868705338
|
0.00004
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn)
|
rs376435824
|
0.00004
|
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)
|
rs192003551
|
0.00004
|
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)
|
rs75459701
|
0.00004
|
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln)
|
rs559905596
|
0.00004
|
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val)
|
rs760334377
|
0.00004
|
NM_020366.4(RPGRIP1):c.3749-2A>G
|
rs376517859
|
0.00004
|
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser)
|
rs749105554
|
0.00004
|
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His)
|
rs376835293
|
0.00004
|
NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp)
|
rs201094714
|
0.00004
|
NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met)
|
rs776231562
|
0.00004
|
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln)
|
rs559896573
|
0.00004
|
NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro)
|
rs746991043
|
0.00004
|
NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly)
|
rs200090107
|
0.00004
|
NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu)
|
rs147148406
|
0.00004
|
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
|
rs144680278
|
0.00004
|
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser)
|
rs367750334
|
0.00004
|
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln)
|
rs565996021
|
0.00004
|
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu)
|
rs202140956
|
0.00004
|
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val)
|
rs754953588
|
0.00004
|
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro)
|
rs779907065
|
0.00004
|
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro)
|
rs201953947
|
0.00004
|
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn)
|
rs140480677
|
0.00004
|
NM_031935.3(HMCN1):c.498+15A>C
|
rs565661847
|
0.00004
|
NM_031935.3(HMCN1):c.5749+6G>A
|
rs575776317
|
0.00004
|
NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr)
|
rs536019281
|
0.00004
|
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter)
|
rs142475663
|
0.00004
|
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp)
|
rs1404028877
|
0.00004
|
NM_201253.3(CRB1):c.1014C>A (p.Ile338=)
|
rs771549675
|
0.00004
|
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)
|
rs62636286
|
0.00004
|
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)
|
rs530046423
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala)
|
rs886045787
|
0.00004
|
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg)
|
rs776191501
|
0.00004
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00004
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=)
|
rs1197075904
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys)
|
rs139997881
|
0.00004
|
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)
|
rs200934092
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser)
|
rs200993435
|
0.00004
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)
|
rs753175395
|
0.00004
|
NM_206933.4(USH2A):c.15369C>T (p.Val5123=)
|
rs142939648
|
0.00004
|
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys)
|
rs570446209
|
0.00004
|
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
|
rs766038321
|
0.00004
|
NM_206933.4(USH2A):c.1840+9C>T
|
rs1452138200
|
0.00004
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
NM_206933.4(USH2A):c.2628T>A (p.Gly876=)
|
rs768522338
|
0.00004
|
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)
|
rs752748453
|
0.00004
|
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)
|
rs146916397
|
0.00004
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00004
|
NM_206933.4(USH2A):c.3811+10C>A
|
rs769756794
|
0.00004
|
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp)
|
rs540537272
|
0.00004
|
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
|
rs770394440
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val)
|
rs201804063
|
0.00004
|
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)
|
rs370643158
|
0.00004
|
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu)
|
rs143107117
|
0.00004
|
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=)
|
rs767205760
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp)
|
rs141134147
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)
|
rs531822235
|
0.00004
|
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)
|
rs769479181
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_000186.4(CFH):c.2868G>A (p.Thr956=)
|
rs533238588
|
0.00003
|
NM_000186.4(CFH):c.526T>C (p.Phe176Leu)
|
rs762132970
|
0.00003
|
NM_000186.4(CFH):c.647T>C (p.Ile216Thr)
|
rs183474263
|
0.00003
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)
|
rs777954362
|
0.00003
|
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=)
|
rs886061885
|
0.00003
|
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro)
|
rs747431002
|
0.00003
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
NM_000441.2(SLC26A4):c.601-5C>T
|
rs546450643
|
0.00003
|
NM_001377295.2(GNAT2):c.818T>A (p.Leu273His)
|
rs368906691
|
0.00003
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg)
|
rs778508372
|
0.00003
|
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met)
|
rs370933593
|
0.00003
|
NM_001614.5(ACTG1):c.693A>G (p.Ala231=)
|
rs534061526
|
0.00003
|
NM_001614.5(ACTG1):c.909C>T (p.Thr303=)
|
rs187127467
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)
|
rs367890569
|
0.00003
|
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)
|
rs766877660
|
0.00003
|
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)
|
rs776165339
|
0.00003
|
NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val)
|
rs187598648
|
0.00003
|
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser)
|
rs780673799
|
0.00003
|
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile)
|
rs773110395
|
0.00003
|
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu)
|
rs766042341
|
0.00003
|
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg)
|
rs373876634
|
0.00003
|
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His)
|
rs766387783
|
0.00003
|
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe)
|
rs754608294
|
0.00003
|
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu)
|
rs373402377
|
0.00003
|
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His)
|
rs559595305
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)
|
rs201893755
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met)
|
rs201349525
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=)
|
rs766310214
|
0.00003
|
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
|
rs564240175
|
0.00003
|
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys)
|
rs794727826
|
0.00003
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
|
rs376077079
|
0.00003
|
NM_206933.4(USH2A):c.1449G>A (p.Thr483=)
|
rs755603663
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)
|
rs755573653
|
0.00003
|
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
|
rs201332729
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)
|
rs1064793745
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)
|
rs370430107
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=)
|
rs747065891
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.5607A>G (p.Thr1869=)
|
rs779171771
|
0.00003
|
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys)
|
rs145647517
|
0.00003
|
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly)
|
rs775877218
|
0.00003
|
NM_206933.4(USH2A):c.627G>A (p.Lys209=)
|
rs146402815
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp)
|
rs149606872
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=)
|
rs773159617
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
0.00003
|
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn)
|
rs143872133
|
0.00003
|
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)
|
rs576236830
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)
|
rs149027999
|
0.00003
|
NM_206933.4(USH2A):c.9990T>C (p.Asn3330=)
|
rs762565385
|
0.00003
|
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)
|
rs769233119
|
0.00003
|
NM_000186.4(CFH):c.122C>T (p.Thr41Ile)
|
rs1192717326
|
0.00002
|
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)
|
rs570523689
|
0.00002
|
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser)
|
rs755928805
|
0.00002
|
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
|
rs772553879
|
0.00002
|
NM_000186.4(CFH):c.2427A>G (p.Gln809=)
|
rs758809077
|
0.00002
|
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)
|
rs781393769
|
0.00002
|
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)
|
rs186711438
|
0.00002
|
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu)
|
rs375951438
|
0.00002
|
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
|
rs779670935
|
0.00002
|
NM_000186.4(CFH):c.906C>G (p.Thr302=)
|
rs148552495
|
0.00002
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
0.00002
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00002
|
NM_000441.2(SLC26A4):c.1341+1G>C
|
rs376653349
|
0.00002
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala)
|
rs745546618
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala)
|
rs200712253
|
0.00002
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys)
|
rs754414120
|
0.00002
|
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser)
|
rs397517450
|
0.00002
|
NM_001614.5(ACTG1):c.861G>A (p.Val287=)
|
rs558300445
|
0.00002
|
NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu)
|
rs1016512710
|
0.00002
|
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe)
|
rs756365691
|
0.00002
|
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=)
|
rs184853466
|
0.00002
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00002
|
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)
|
rs535922252
|
0.00002
|
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val)
|
rs758652031
|
0.00002
|
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter)
|
rs1030149008
|
0.00002
|
NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu)
|
rs755322533
|
0.00002
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=)
|
rs767480784
|
0.00002
|
NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile)
|
rs202048433
|
0.00002
|
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln)
|
rs761068592
|
0.00002
|
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp)
|
rs773577908
|
0.00002
|
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln)
|
rs370909774
|
0.00002
|
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=)
|
rs373603132
|
0.00002
|
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys)
|
rs779454634
|
0.00002
|
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val)
|
rs200327975
|
0.00002
|
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu)
|
rs749154171
|
0.00002
|
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)
|
rs755694066
|
0.00002
|
NM_153676.4(USH1C):c.204G>T (p.Leu68=)
|
rs140945339
|
0.00002
|
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)
|
rs778627080
|
0.00002
|
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
|
rs763111500
|
0.00002
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser)
|
rs557111131
|
0.00002
|
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)
|
rs757740068
|
0.00002
|
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
|
rs760544654
|
0.00002
|
NM_206933.4(USH2A):c.10183-12C>T
|
rs747413632
|
0.00002
|
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=)
|
rs760725818
|
0.00002
|
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)
|
rs774844491
|
0.00002
|
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp)
|
rs145718329
|
0.00002
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
|
rs754979740
|
0.00002
|
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)
|
rs376528829
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
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.12361C>T (p.Arg4121Cys)
|
rs772357461
|
0.00002
|
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His)
|
rs747947192
|
0.00002
|
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
|
rs140010020
|
0.00002
|
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile)
|
rs533179037
|
0.00002
|
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)
|
rs373152283
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=)
|
rs778162193
|
0.00002
|
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)
|
rs773859845
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.1510C>A (p.His504Asn)
|
rs533024548
|
0.00002
|
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)
|
rs267598369
|
0.00002
|
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met)
|
rs761474352
|
0.00002
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
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_206933.4(USH2A):c.274T>G (p.Ser92Ala)
|
rs192918169
|
0.00002
|
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580
|
0.00002
|
NM_206933.4(USH2A):c.3316+5G>C
|
rs1442104013
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His)
|
rs761306493
|
0.00002
|
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=)
|
rs111033532
|
0.00002
|
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys)
|
rs1351926905
|
0.00002
|
NM_206933.4(USH2A):c.5538G>C (p.Leu1846=)
|
rs370356689
|
0.00002
|
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr)
|
rs749333215
|
0.00002
|
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=)
|
rs727505165
|
0.00002
|
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe)
|
rs756234447
|
0.00002
|
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)
|
rs1284826852
|
0.00002
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
|
rs375744536
|
0.00002
|
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)
|
rs372950392
|
0.00002
|
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=)
|
rs1305453013
|
0.00002
|
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)
|
rs937606032
|
0.00002
|
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg)
|
rs374456269
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
|
rs759063087
|
0.00002
|
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
|
rs760779633
|
0.00002
|
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
|
rs1467856164
|
0.00002
|
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)
|
rs876658116
|
0.00002
|
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=)
|
rs181961185
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
0.00002
|
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp)
|
rs762076576
|
0.00002
|
NM_000186.4(CFH):c.100A>T (p.Thr34Ser)
|
rs1389897706
|
0.00001
|
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)
|
rs1450633243
|
0.00001
|
NM_000186.4(CFH):c.1474A>G (p.Ile492Val)
|
rs892717090
|
0.00001
|
NM_000186.4(CFH):c.1612G>C (p.Asp538His)
|
rs778051521
|
0.00001
|
NM_000186.4(CFH):c.1697-3A>C
|
rs778174105
|
0.00001
|
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)
|
rs144696019
|
0.00001
|
NM_000186.4(CFH):c.1745G>A (p.Arg582His)
|
rs138890387
|
0.00001
|
NM_000186.4(CFH):c.1864A>G (p.Ile622Val)
|
rs990484984
|
0.00001
|
NM_000186.4(CFH):c.1934C>T (p.Thr645Met)
|
rs749232210
|
0.00001
|
NM_000186.4(CFH):c.2047G>A (p.Val683Met)
|
rs573295841
|
0.00001
|
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)
|
rs763441589
|
0.00001
|
NM_000186.4(CFH):c.2236+10C>G
|
rs755790229
|
0.00001
|
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)
|
rs753331225
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu)
|
rs1408179720
|
0.00001
|
NM_000186.4(CFH):c.2946A>G (p.Pro982=)
|
rs553471643
|
0.00001
|
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)
|
rs1366929531
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu)
|
rs1408795010
|
0.00001
|
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)
|
rs771435716
|
0.00001
|
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp)
|
rs761877050
|
0.00001
|
NM_000186.4(CFH):c.506A>G (p.His169Arg)
|
rs768647508
|
0.00001
|
NM_000186.4(CFH):c.524G>C (p.Arg175Pro)
|
rs139360826
|
0.00001
|
NM_000186.4(CFH):c.727T>C (p.Tyr243His)
|
rs748692496
|
0.00001
|
NM_000186.4(CFH):c.849A>G (p.Lys283=)
|
rs771886590
|
0.00001
|
NM_000186.4(CFH):c.889G>A (p.Gly297Ser)
|
rs764573258
|
0.00001
|
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val)
|
rs1282033456
|
0.00001
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)
|
rs1241891051
|
0.00001
|
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)
|
rs781926175
|
0.00001
|
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00001
|
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys)
|
rs782189807
|
0.00001
|
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=)
|
rs762101560
|
0.00001
|
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser)
|
rs755771068
|
0.00001
|
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=)
|
rs771896529
|
0.00001
|
NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser)
|
rs746774239
|
0.00001
|
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)
|
rs747155741
|
0.00001
|
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg)
|
rs779090765
|
0.00001
|
NM_000329.3(RPE65):c.547A>G (p.Ile183Val)
|
rs1010958875
|
0.00001
|
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
|
rs727504993
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser)
|
rs1298350213
|
0.00001
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala)
|
rs56017519
|
0.00001
|
NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val)
|
rs559273196
|
0.00001
|
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys)
|
rs375645779
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=)
|
rs909072667
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.2185C>T (p.Leu729=)
|
rs758851434
|
0.00001
|
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)
|
rs200706874
|
0.00001
|
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)
|
rs1481765326
|
0.00001
|
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val)
|
rs111033365
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)
|
rs773602319
|
0.00001
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=)
|
rs886061675
|
0.00001
|
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)
|
rs559824825
|
0.00001
|
NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr)
|
rs753014058
|
0.00001
|
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met)
|
rs200316722
|
0.00001
|
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys)
|
rs140788789
|
0.00001
|
NM_001378609.3(OTOGL):c.6429G>A (p.Glu2143=)
|
rs777315488
|
0.00001
|
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys)
|
rs139104747
|
0.00001
|
NM_001384474.1(LOXHD1):c.4685G>A (p.Arg1562His)
|
rs1293854417
|
0.00001
|
NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln)
|
rs551509351
|
0.00001
|
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu)
|
rs887762794
|
0.00001
|
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His)
|
rs371301199
|
0.00001
|
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val)
|
rs145732892
|
0.00001
|
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile)
|
rs778538229
|
0.00001
|
NM_004700.4(KCNQ4):c.946-3T>A
|
rs876657840
|
0.00001
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)
|
rs556069604
|
0.00001
|
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)
|
rs774752168
|
0.00001
|
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)
|
rs148131756
|
0.00001
|
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)
|
rs754653320
|
0.00001
|
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr)
|
rs753575515
|
0.00001
|
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys)
|
rs1278572461
|
0.00001
|
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)
|
rs759940113
|
0.00001
|
NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu)
|
rs372647080
|
0.00001
|
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)
|
rs1429786931
|
0.00001
|
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)
|
rs398124354
|
0.00001
|
NM_020366.4(RPGRIP1):c.3239-14C>T
|
rs542859849
|
0.00001
|
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)
|
rs752175052
|
0.00001
|
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile)
|
rs778860397
|
0.00001
|
NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu)
|
rs547876047
|
0.00001
|
NM_020366.4(RPGRIP1):c.800+1G>A
|
rs376500610
|
0.00001
|
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn)
|
rs374014052
|
0.00001
|
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg)
|
rs397517311
|
0.00001
|
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys)
|
rs775017408
|
0.00001
|
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser)
|
rs760043975
|
0.00001
|
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg)
|
rs747673739
|
0.00001
|
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp)
|
rs1465588529
|
0.00001
|
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe)
|
rs557490269
|
0.00001
|
NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile)
|
rs768826705
|
0.00001
|
NM_022367.4(SEMA4A):c.1174A>C (p.Met392Leu)
|
rs1475557484
|
0.00001
|
NM_022367.4(SEMA4A):c.1287C>G (p.His429Gln)
|
rs368904425
|
0.00001
|
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu)
|
rs780625142
|
0.00001
|
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp)
|
rs762468169
|
0.00001
|
NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile)
|
rs374333337
|
0.00001
|
NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser)
|
rs773687726
|
0.00001
|
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr)
|
rs746480984
|
0.00001
|
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln)
|
rs745313929
|
0.00001
|
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg)
|
rs777770411
|
0.00001
|
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys)
|
rs1400175925
|
0.00001
|
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=)
|
rs565658664
|
0.00001
|
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile)
|
rs200984902
|
0.00001
|
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met)
|
rs563362752
|
0.00001
|
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp)
|
rs536701183
|
0.00001
|
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val)
|
rs748823261
|
0.00001
|
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala)
|
rs771757920
|
0.00001
|
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp)
|
rs1046849931
|
0.00001
|
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg)
|
rs368702685
|
0.00001
|
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met)
|
rs762631011
|
0.00001
|
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu)
|
rs780422973
|
0.00001
|
NM_031935.3(HMCN1):c.4200+6T>C
|
rs759273685
|
0.00001
|
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn)
|
rs762354666
|
0.00001
|
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser)
|
rs1332606772
|
0.00001
|
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile)
|
rs766434071
|
0.00001
|
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile)
|
rs530178194
|
0.00001
|
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val)
|
rs1167111929
|
0.00001
|
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys)
|
rs573119781
|
0.00001
|
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe)
|
rs201586866
|
0.00001
|
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile)
|
rs376875658
|
0.00001
|
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu)
|
rs574155244
|
0.00001
|
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys)
|
rs747230633
|
0.00001
|
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His)
|
rs375407833
|
0.00001
|
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr)
|
rs886045676
|
0.00001
|
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser)
|
rs146969586
|
0.00001
|
NM_033056.4(PCDH15):c.5655C>T (p.His1885=)
|
rs758953502
|
0.00001
|
NM_033641.4(COL4A6):c.114C>T (p.Ser38=)
|
rs377506539
|
0.00001
|
NM_152443.3(RDH12):c.92G>A (p.Cys31Tyr)
|
rs746979841
|
0.00001
|
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)
|
rs778909195
|
0.00001
|
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)
|
rs727503443
|
0.00001
|
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)
|
rs769443188
|
0.00001
|
NM_201253.3(CRB1):c.1149dup (p.Ile384fs)
|
rs1660517678
|
0.00001
|
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)
|
rs373229699
|
0.00001
|
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)
|
rs1254919944
|
0.00001
|
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)
|
rs375590765
|
0.00001
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu)
|
rs769859765
|
0.00001
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)
|
rs1457623741
|
0.00001
|
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)
|
rs774597710
|
0.00001
|
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)
|
rs765676754
|
0.00001
|
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr)
|
rs757381371
|
0.00001
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu)
|
rs886045784
|
0.00001
|
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala)
|
rs772386967
|
0.00001
|
NM_201253.3(CRB1):c.2677-343G>A
|
rs760861776
|
0.00001
|
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp)
|
rs749366098
|
0.00001
|
NM_201253.3(CRB1):c.2715G>A (p.Arg905=)
|
rs534108312
|
0.00001
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)
|
rs62635655
|
0.00001
|
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)
|
rs752329622
|
0.00001
|
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)
|
rs62635656
|
0.00001
|
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys)
|
rs115649214
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)
|
rs746774206
|
0.00001
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
NM_201253.3(CRB1):c.4039del (p.Thr1347fs)
|
rs745422941
|
0.00001
|
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=)
|
rs753097155
|
0.00001
|
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe)
|
rs1658699227
|
0.00001
|
NM_201253.3(CRB1):c.653-1G>T
|
rs760287363
|
0.00001
|
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)
|
rs1452822430
|
0.00001
|
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser)
|
rs911156007
|
0.00001
|
NM_201253.3(CRB1):c.976C>T (p.His326Tyr)
|
rs773386179
|
0.00001
|
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)
|
rs778232235
|
0.00001
|
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)
|
rs755020832
|
0.00001
|
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu)
|
rs1253788950
|
0.00001
|
NM_206933.4(USH2A):c.10182+5T>C
|
rs1049628868
|
0.00001
|
NM_206933.4(USH2A):c.10311G>A (p.Lys3437=)
|
rs777618025
|
0.00001
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00001
|
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)
|
rs141098637
|
0.00001
|
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)
|
rs775053681
|
0.00001
|
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=)
|
rs397517967
|
0.00001
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10586-2A>G
|
rs370327669
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)
|
rs763125604
|
0.00001
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala)
|
rs765454203
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn)
|
rs1373104511
|
0.00001
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
|
rs1289393326
|
0.00001
|
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu)
|
rs1660884865
|
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.11740G>A (p.Val3914Ile)
|
rs1401744202
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr)
|
rs541566194
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys)
|
rs772969352
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg)
|
rs1174206381
|
0.00001
|
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His)
|
rs188008529
|
0.00001
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg)
|
rs138866017
|
0.00001
|
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly)
|
rs768614804
|
0.00001
|
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)
|
rs779875423
|
0.00001
|
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys)
|
rs760177550
|
0.00001
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=)
|
rs113805451
|
0.00001
|
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly)
|
rs936692193
|
0.00001
|
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)
|
rs750512832
|
0.00001
|
NM_206933.4(USH2A):c.12987T>C (p.Tyr4329=)
|
rs1203365063
|
0.00001
|
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val)
|
rs770620234
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13113A>G (p.Gln4371=)
|
rs773670510
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=)
|
rs187707339
|
0.00001
|
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)
|
rs1453273341
|
0.00001
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)
|
rs1427845684
|
0.00001
|
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=)
|
rs397517986
|
0.00001
|
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu)
|
rs1176215017
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
|
rs201631375
|
0.00001
|
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
|
rs55838724
|
0.00001
|
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)
|
rs1254637647
|
0.00001
|
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln)
|
rs1220949681
|
0.00001
|
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe)
|
rs775307880
|
0.00001
|
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp)
|
rs757728612
|
0.00001
|
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)
|
rs1656936749
|
0.00001
|
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys)
|
rs756570931
|
0.00001
|
NM_206933.4(USH2A):c.14791+5G>T
|
rs1235430504
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=)
|
rs397517992
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.1482T>C (p.Tyr494=)
|
rs1015357632
|
0.00001
|
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe)
|
rs556415914
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=)
|
rs397517995
|
0.00001
|
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe)
|
rs41308423
|
0.00001
|
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)
|
rs397517996
|
0.00001
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=)
|
rs147916810
|
0.00001
|
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=)
|
rs762610249
|
0.00001
|
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)
|
rs542341955
|
0.00001
|
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)
|
rs376816523
|
0.00001
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)
|
rs759899869
|
0.00001
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00001
|
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)
|
rs751811618
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.1840+4A>G
|
rs749288291
|
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.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser)
|
rs759589036
|
0.00001
|
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly)
|
rs397518005
|
0.00001
|
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
|
rs753305011
|
0.00001
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2169G>A (p.Gly723=)
|
rs751156464
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)
|
rs1037325220
|
0.00001
|
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro)
|
rs769767476
|
0.00001
|
NM_206933.4(USH2A):c.2643G>A (p.Gln881=)
|
rs1286317611
|
0.00001
|
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)
|
rs772211390
|
0.00001
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087
|
0.00001
|
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu)
|
rs779811357
|
0.00001
|
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
|
rs1391032458
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr)
|
rs751890894
|
0.00001
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=)
|
rs946318077
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser)
|
rs372843685
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr)
|
rs761752531
|
0.00001
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
NM_206933.4(USH2A):c.3812-2A>G
|
rs758733024
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn)
|
rs772408328
|
0.00001
|
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)
|
rs780574336
|
0.00001
|
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
|
rs145459379
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro)
|
rs373130157
|
0.00001
|
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser)
|
rs776039417
|
0.00001
|
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
|
rs2034688425
|
0.00001
|
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)
|
rs757315203
|
0.00001
|
NM_206933.4(USH2A):c.441A>G (p.Ser147=)
|
rs773525654
|
0.00001
|
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile)
|
rs961580455
|
0.00001
|
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe)
|
rs755482100
|
0.00001
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His)
|
rs552928943
|
0.00001
|
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)
|
rs1265349835
|
0.00001
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
0.00001
|
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp)
|
rs746010533
|
0.00001
|
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu)
|
rs144213699
|
0.00001
|
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile)
|
rs764080143
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys)
|
rs375519871
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly)
|
rs940913250
|
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.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.5776+7T>G
|
rs397518020
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
|
rs777886737
|
0.00001
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp)
|
rs397518024
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
|
rs758696021
|
0.00001
|
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala)
|
rs887441664
|
0.00001
|
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
|
rs769609970
|
0.00001
|
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser)
|
rs1047559421
|
0.00001
|
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
|
rs755612537
|
0.00001
|
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
|
rs774634733
|
0.00001
|
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr)
|
rs750302027
|
0.00001
|
NM_206933.4(USH2A):c.6806-3C>T
|
rs775703386
|
0.00001
|
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser)
|
rs528089082
|
0.00001
|
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser)
|
rs150634036
|
0.00001
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln)
|
rs772014718
|
0.00001
|
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=)
|
rs397518028
|
0.00001
|
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys)
|
rs926377709
|
0.00001
|
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met)
|
rs727503721
|
0.00001
|
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr)
|
rs886042178
|
0.00001
|
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val)
|
rs1475753019
|
0.00001
|
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe)
|
rs199825458
|
0.00001
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His)
|
rs1290644032
|
0.00001
|
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile)
|
rs876658115
|
0.00001
|
NM_206933.4(USH2A):c.7594+2del
|
rs762608746
|
0.00001
|
NM_206933.4(USH2A):c.7596A>G (p.Lys2532=)
|
rs201084527
|
0.00001
|
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser)
|
rs758382005
|
0.00001
|
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn)
|
rs754677752
|
0.00001
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln)
|
rs267598376
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=)
|
rs727505274
|
0.00001
|
NM_206933.4(USH2A):c.82A>G (p.Ile28Val)
|
rs753515909
|
0.00001
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys)
|
rs1369414978
|
0.00001
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
0.00001
|
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
NM_206933.4(USH2A):c.897A>G (p.Gln299=)
|
rs201062965
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
|
rs766298464
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00001
|
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)
|
rs397518046
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr)
|
rs1236116000
|
0.00001
|
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)
|
rs1043013730
|
0.00001
|
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His)
|
rs1334903455
|
0.00001
|
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
|
rs1662221668
|
0.00001
|
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
|
rs766658893
|
0.00001
|
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu)
|
rs1378786390
|
0.00001
|
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn)
|
rs1558099268
|
0.00001
|
NM_000064.4(C3):c.1686+48TC[8]
|
rs112132860
|
|
NM_000064.4(C3):c.2440+116C>G
|
rs408290
|
|
NM_000064.4(C3):c.2441-24C>A
|
rs366510
|
|
NM_000186.4(CFH):c.1511C>T (p.Thr504Met)
|
rs377008918
|
|
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
|
|
|
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
|
|
|
NM_000186.4(CFH):c.1935G>A (p.Thr645=)
|
rs56035657
|
|
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
|
|
|
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr)
|
rs1431491220
|
|
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)
|
rs2149108610
|
|
NM_000186.4(CFH):c.245-10_245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.245-11_245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.245-9del
|
rs35507625
|
|
NM_000186.4(CFH):c.245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.2783-3dup
|
rs748791414
|
|
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
|
|
|
NM_000186.4(CFH):c.3138C>T (p.Thr1046=)
|
rs61822181
|
|
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr)
|
rs1652885970
|
|
NM_000186.4(CFH):c.318T>C (p.Tyr106=)
|
rs1448752091
|
|
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu)
|
rs15809
|
|
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln)
|
rs1064795727
|
|
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
|
|
|
NM_000186.4(CFH):c.350+15C>T
|
rs190197472
|
|
NM_000186.4(CFH):c.497G>A (p.Arg166Gln)
|
rs770339409
|
|
NM_000186.4(CFH):c.497G>T (p.Arg166Leu)
|
rs770339409
|
|
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
|
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000245.4(MET):c.2584-9del
|
rs57349036
|
|
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys)
|
rs782227657
|
|
NM_000260.4(MYO7A):c.1343+8G>A
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1554+244T>C
|
rs3740763
|
|
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met)
|
rs782412089
|
|
NM_000260.4(MYO7A):c.2695-58C>G
|
rs3740762
|
|
NM_000260.4(MYO7A):c.3375+33G>C
|
rs948972
|
|
NM_000260.4(MYO7A):c.3924+109G>A
|
rs4944148
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962
|
|
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile)
|
rs1408119204
|
|
NM_000260.4(MYO7A):c.843G>A (p.Leu281=)
|
rs1555064274
|
|
NM_000274.4(OAT):c.799A>G (p.Thr267Ala)
|
rs2134456603
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)
|
rs774130993
|
|
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn)
|
rs2100827532
|
|
NM_000330.4(RS1):c.579del (p.Ile194fs)
|
rs199469697
|
|
NM_000350.3(ABCA4):c.1240-65del
|
rs3215952
|
|
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)
|
rs2101079015
|
|
NM_000350.3(ABCA4):c.4128+1G>A
|
rs2101036750
|
|
NM_000350.3(ABCA4):c.4352+54A>G
|
rs547806
|
|
NM_000350.3(ABCA4):c.4774-17_4774-16del
|
rs55860151
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000440.3(PDE6A):c.934-27_934-26del
|
rs60750624
|
|
NM_000441.2(SLC26A4):c.-8G>A
|
rs886061882
|
|
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
|
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala)
|
rs1057520369
|
|
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)
|
rs1554359693
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)
|
rs727505088
|
|
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)
|
rs1554360358
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)
|
rs1554360678
|
|
NM_000441.2(SLC26A4):c.1915G>T (p.Asp639Tyr)
|
rs747919826
|
|
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly)
|
rs886061887
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn)
|
rs145805875
|
|
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
|
rs1417146153
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)
|
rs1057517303
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg)
|
rs761210511
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala)
|
rs775490005
|
|
NM_000539.3(RHO):c.*43C>A
|
rs2071093
|
|
NM_000554.6(CRX):c.570dup (p.Tyr191fs)
|
rs1968168564
|
|
NM_000601.6(HGF):c.866-22del
|
rs5745686
|
|
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)
|
rs55745992
|
|
NM_001039141.3(TRIOBP):c.6472+19dup
|
rs3833924
|
|
NM_001039348.3(EFEMP1):c.1000+19del
|
rs56280335
|
|
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly)
|
rs17304212
|
|
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys)
|
rs17304212
|
|
NM_001077620.3(PRCD):c.74+36C>G
|
rs77817682
|
|
NM_001080476.3(GRXCR1):c.627+8A>C
|
rs10213360
|
|
NM_001098.3(ACO2):c.174-52G>T
|
rs2076199
|
|
NM_001124758.3(SPNS2):c.1443+43A>G
|
rs11658114
|
|
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr)
|
rs754554
|
|
NM_001142800.2(EYS):c.1459+103C>T
|
rs9453265
|
|
NM_001142800.2(EYS):c.2382-26C>G
|
rs9445437
|
|
NM_001142800.2(EYS):c.2847-24C>T
|
rs7743515
|
|
NM_001142800.2(EYS):c.2993-2A>G
|
rs2150022860
|
|
NM_001142800.2(EYS):c.3443+160T>G
|
rs9345532
|
|
NM_001142800.2(EYS):c.359C>T (p.Thr120Met)
|
rs12193967
|
|
NM_001142800.2(EYS):c.4261G>C (p.Ala1421Pro)
|
rs545171658
|
|
NM_001142800.2(EYS):c.4290C>G (p.Ser1430Arg)
|
rs2149832263
|
|
NM_001142800.2(EYS):c.5835+155T>C
|
rs3904083
|
|
NM_001142800.2(EYS):c.5884A>G (p.Thr1962Ala)
|
rs2150463938
|
|
NM_001142800.2(EYS):c.602A>G (p.His201Arg)
|
rs1011260787
|
|
NM_001142800.2(EYS):c.6116A>T (p.Glu2039Val)
|
rs2150375987
|
|
NM_001142800.2(EYS):c.7196del (p.Pro2399fs)
|
rs2149709684
|
|
NM_001142800.2(EYS):c.7366G>A (p.Ala2456Thr)
|
rs2149678928
|
|
NM_001142800.2(EYS):c.7480G>A (p.Gly2494Arg)
|
rs1483377268
|
|
NM_001142800.2(EYS):c.8150del (p.Lys2717fs)
|
rs1251637752
|
|
NM_001145026.2(PTPRQ):c.1187-27dup
|
rs56351124
|
|
NM_001145026.2(PTPRQ):c.1882+16TTG[7]
|
rs58537253
|
|
NM_001145026.2(PTPRQ):c.6453+21C>T
|
rs1163041
|
|
NM_001164665.2(KIAA1549):c.1090A>G (p.Thr364Ala)
|
rs59985563
|
|
NM_001164665.2(KIAA1549):c.2316C>T (p.Pro772=)
|
rs61746877
|
|
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4])
|
rs762000985
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.928+20del
|
rs77484072
|
|
NM_001256789.3(CACNA1F):c.2928+5C>T
|
rs2147908085
|
|
NM_001256789.3(CACNA1F):c.3037-30G>A
|
rs2065733290
|
|
NM_001297.5(CNGB1):c.1643+39C>G
|
rs247065
|
|
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=)
|
rs413562
|
|
NM_001297.5(CNGB1):c.299G>A (p.Arg100His)
|
rs13336595
|
|
NM_001346022.3(USP45):c.1309-26_1309-22del
|
rs66817403
|
|
NM_001358263.1(HK1):c.75+23T>C
|
rs4746837
|
|
NM_001376256.1(CRYM):c.864C>G (p.Thr288=)
|
rs14122
|
|
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)
|
|
|
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro)
|
rs779967692
|
|
NM_001378457.1(DMXL2):c.6833+11del
|
rs11291027
|
|
NM_001378457.1(DMXL2):c.7520+35del
|
rs10706765
|
|
NM_001378609.3(OTOGL):c.3702G>A (p.Met1234Ile)
|
rs1207446497
|
|
NM_001378609.3(OTOGL):c.5067T>C (p.Asp1689=)
|
rs1888797330
|
|
NM_001378609.3(OTOGL):c.5957G>A (p.Arg1986Lys)
|
rs1440977583
|
|
NM_001379270.1(CNGA1):c.108-29T>C
|
rs3845160
|
|
NM_001384140.1(PCDH15):c.1590+20A>G
|
rs7093302
|
|
NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe)
|
rs2133060549
|
|
NM_001384140.1(PCDH15):c.1917+13GT[10]
|
rs5785040
|
|
NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala)
|
rs2134276764
|
|
NM_001384140.1(PCDH15):c.3502-14dup
|
rs5785023
|
|
NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=)
|
rs2133038894
|
|
NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys)
|
rs2132762710
|
|
NM_001384140.1(PCDH15):c.945G>A (p.Pro315=)
|
rs150450873
|
|
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs)
|
rs2144243196
|
|
NM_001384474.1(LOXHD1):c.1666C>G (p.His556Asp)
|
rs2144147870
|
|
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)
|
rs35088381
|
|
NM_001384474.1(LOXHD1):c.4531-120G>A
|
rs11660036
|
|
NM_001614.5(ACTG1):c.-6-83T>G
|
rs8064532
|
|
NM_001614.5(ACTG1):c.124-8C>T
|
rs201279208
|
|
NM_001614.5(ACTG1):c.15C>A (p.Ile5=)
|
rs199657153
|
|
NM_001614.5(ACTG1):c.15C>T (p.Ile5=)
|
rs199657153
|
|
NM_001614.5(ACTG1):c.315G>A (p.Leu105=)
|
rs202094234
|
|
NM_001614.5(ACTG1):c.414C>T (p.Ala138=)
|
rs143978597
|
|
NM_001614.5(ACTG1):c.558C>T (p.Thr186=)
|
rs142893042
|
|
NM_001614.5(ACTG1):c.985-40del
|
rs59886367
|
|
NM_001793.6(CDH3):c.2281-45A>C
|
rs3114409
|
|
NM_001854.4(COL11A1):c.1792-39ATG[9]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)
|
rs17127270
|
|
NM_001854.4(COL11A1):c.3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.652-6del
|
rs36076089
|
|
NM_002160.4(TNC):c.2049G>A (p.Glu683=)
|
rs2274836
|
|
NM_002160.4(TNC):c.3375C>A (p.Ser1125Arg)
|
rs61737056
|
|
NM_002160.4(TNC):c.5093G>A (p.Arg1698Gln)
|
rs61734387
|
|
NM_002160.4(TNC):c.5093G>C (p.Arg1698Pro)
|
rs61734387
|
|
NM_002160.4(TNC):c.6099C>T (p.Arg2033=)
|
rs58547879
|
|
NM_002900.3(RBP3):c.837G>A (p.Thr279=)
|
rs2376635
|
|
NM_002906.4(RDX):c.-64-6del
|
rs61003001
|
|
NM_003322.6(TULP1):c.823-17G>C
|
rs12215920
|
|
NM_003611.3(OFD1):c.1412-11del
|
rs36052228
|
|
NM_003816.3(ADAM9):c.1130+15_1130+18dup
|
rs10651669
|
|
NM_004004.6(GJB2):c.349G>T (p.Asp117Tyr)
|
rs2137307822
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004044.7(ATIC):c.1098+60C>G
|
rs13002576
|
|
NM_004044.7(ATIC):c.380-19A>C
|
rs2177737
|
|
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter)
|
rs2128711268
|
|
NM_004183.4(BEST1):c.868-99G>T
|
rs195158
|
|
NM_004230.4(S1PR2):c.919A>C (p.Arg307=)
|
rs2116942
|
|
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg)
|
rs368294870
|
|
NM_004700.4(KCNQ4):c.1267A>G (p.Ser423Gly)
|
rs368294870
|
|
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)
|
rs1648636515
|
|
NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup)
|
rs769859021
|
|
NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)
|
|
|
NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)
|
|
|
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg)
|
rs727504459
|
|
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)
|
rs80358278
|
|
NM_005422.4(TECTA):c.5586+40C>G
|
rs2186747
|
|
NM_005982.4(SIX1):c.561-34_561-31del
|
rs34899649
|
|
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)
|
rs61739567
|
|
NM_006343.3(MERTK):c.2080-11C>A
|
rs3811640
|
|
NM_006744.4(RBP4):c.356-25G>C
|
rs12265684
|
|
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg)
|
rs770968991
|
|
NM_014003.4(DHX38):c.418C>A (p.Arg140=)
|
rs1050362
|
|
NM_014249.4(NR2E3):c.951del (p.Thr318fs)
|
rs11351249
|
|
NM_015662.3(IFT172):c.2877+48T>G
|
rs780106
|
|
NM_016239.4(MYO15A):c.5133+26A>C
|
rs2075658
|
|
NM_016239.4(MYO15A):c.8088+5C>G
|
rs9916193
|
|
NM_017739.4(POMGNT1):c.*457C>T
|
rs1657513729
|
|
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)
|
rs752591703
|
|
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)
|
rs2148167563
|
|
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)
|
rs972657462
|
|
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)
|
rs2148202208
|
|
NM_018191.4(RCBTB1):c.1017C>G (p.Pro339=)
|
rs3751384
|
|
NM_019098.4(CNGB3):c.-36T>G
|
rs7812496
|
|
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)
|
rs758914061
|
|
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met)
|
rs5986963
|
|
NM_020061.6(OPN1LW):c.513G>T (p.Val171=)
|
rs5986964
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020366.4(RPGRIP1):c.1612-3C>A
|
rs1594204748
|
|
NM_020366.4(RPGRIP1):c.2368-2A>G
|
rs1064797182
|
|
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)
|
rs745741473
|
|
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)
|
rs1057519200
|
|
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)
|
rs776289402
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu)
|
rs886050401
|
|
NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr)
|
rs144704092
|
|
NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser)
|
rs756503753
|
|
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)
|
rs188660364
|
|
NM_020366.4(RPGRIP1):c.3618-1_3621del
|
rs1594280740
|
|
NM_020366.4(RPGRIP1):c.673del (p.His225fs)
|
rs752263228
|
|
NM_020366.4(RPGRIP1):c.906+2T>G
|
rs1594180201
|
|
NM_020461.4(TUBGCP6):c.4861G>C (p.Val1621Leu)
|
rs4838864
|
|
NM_021116.4(ADCY1):c.2571+37T>G
|
rs2247685
|
|
NM_022124.6(CDH23):c.2100C>T (p.Arg700=)
|
rs2132705726
|
|
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp)
|
rs1203928940
|
|
NM_022124.6(CDH23):c.2817C>T (p.Leu939=)
|
rs2132739969
|
|
NM_022124.6(CDH23):c.3430+114T>C
|
rs7893748
|
|
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly)
|
rs773842427
|
|
NM_022124.6(CDH23):c.5187+44C>G
|
rs10740390
|
|
NM_022124.6(CDH23):c.5187+73C>T
|
rs10823843
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe)
|
rs2132947982
|
|
NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile)
|
rs2132948196
|
|
NM_022124.6(CDH23):c.605A>C (p.Gln202Pro)
|
rs2132359067
|
|
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys)
|
rs375329233
|
|
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp)
|
rs760879110
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn)
|
rs2132514962
|
|
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr)
|
rs2133006667
|
|
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del)
|
rs763993100
|
|
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys)
|
rs2133017674
|
|
NM_022367.4(SEMA4A):c.1196A>T (p.Asp399Val)
|
rs727504147
|
|
NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val)
|
rs886045366
|
|
NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser)
|
rs1286943189
|
|
NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser)
|
rs199933282
|
|
NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs)
|
rs780625314
|
|
NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn)
|
|
|
NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp)
|
|
|
NM_022772.4(EPS8L2):c.165+72G>A
|
rs7395822
|
|
NM_025257.3(SLC44A4):c.813C>T (p.Tyr271=)
|
rs494620
|
|
NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile)
|
rs1169691619
|
|
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)
|
rs753656568
|
|
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)
|
|
|
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)
|
|
|
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln)
|
rs369620574
|
|
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly)
|
rs201041141
|
|
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)
|
|
|
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)
|
|
|
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala)
|
rs145492995
|
|
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)
|
|
|
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)
|
|
|
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)
|
|
|
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)
|
|
|
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)
|
|
|
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=)
|
rs144437187
|
|
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)
|
|
|
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)
|
|
|
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser)
|
rs367723447
|
|
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)
|
|
|
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)
|
|
|
NM_031935.3(HMCN1):c.14266+19_14266+22del
|
rs770465309
|
|
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)
|
|
|
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)
|
|
|
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)
|
|
|
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)
|
|
|
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)
|
|
|
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe)
|
rs794728017
|
|
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala)
|
rs767233028
|
|
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys)
|
rs749090856
|
|
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)
|
|
|
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)
|
|
|
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)
|
|
|
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)
|
|
|
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)
|
|
|
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del)
|
rs780673178
|
|
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)
|
|
|
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe)
|
rs369798131
|
|
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)
|
|
|
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln)
|
rs568780532
|
|
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)
|
|
|
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)
|
|
|
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)
|
|
|
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)
|
|
|
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)
|
|
|
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)
|
|
|
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys)
|
rs765224895
|
|
NM_031935.3(HMCN1):c.4910-14_4910-13del
|
rs200156765
|
|
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)
|
|
|
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys)
|
rs756344375
|
|
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)
|
|
|
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)
|
|
|
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys)
|
rs200822474
|
|
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)
|
|
|
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)
|
|
|
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)
|
|
|
NM_031935.3(HMCN1):c.7426+8T>C
|
|
|
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)
|
|
|
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)
|
|
|
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)
|
|
|
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)
|
|
|
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)
|
|
|
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)
|
|
|
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)
|
|
|
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)
|
|
|
NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe)
|
rs192222844
|
|
NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)
|
|
|
NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)
|
|
|
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs)
|
rs35296328
|
|
NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg)
|
rs1564533607
|
|
NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe)
|
rs2132483191
|
|
NM_033109.5(PNPT1):c.*11dup
|
rs35916020
|
|
NM_033641.4(COL4A6):c.1180+4dup
|
rs368897242
|
|
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln)
|
rs34740537
|
|
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu)
|
rs34740537
|
|
NM_033641.4(COL4A6):c.2132-6G>A
|
rs201589060
|
|
NM_033641.4(COL4A6):c.2132-6G>T
|
rs201589060
|
|
NM_033641.4(COL4A6):c.687+30C>A
|
rs1266730
|
|
NM_080680.3(COL11A2):c.2682+26A>C
|
rs9277932
|
|
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys)
|
rs9277934
|
|
NM_138393.4(REEP6):c.517+265GC[6]
|
rs34524945
|
|
NM_144672.4(OTOA):c.2302-26C>T
|
rs56065183
|
|
NM_145200.5(CABP4):c.541+8A>C
|
rs1638565
|
|
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del)
|
rs10578999
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|
NM_152443.3(RDH12):c.345G>C (p.Glu115Asp)
|
rs2038181425
|
|
NM_153676.4(USH1C):c.1261-34C>T
|
rs2190454
|
|
NM_153676.4(USH1C):c.2546+125A>G
|
rs2072229
|
|
NM_153676.4(USH1C):c.496+33=
|
rs12795083
|
|
NM_153700.2(STRC):c.22CTG[10] (p.Leu18del)
|
rs1567120678
|
|
NM_153700.2(STRC):c.274C>T (p.Arg92Trp)
|
rs1484849703
|
|
NM_153700.2(STRC):c.3681+11G>A
|
rs796781098
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)
|
rs1366021609
|
|
NM_170682.4(P2RX2):c.173+28_173+41del
|
rs200710959
|
|
NM_172240.3(POC1B):c.453-12_453-3del
|
rs59139895
|
|
NM_172364.5(CACNA2D4):c.1879-63C>G
|
rs2370057
|
|
NM_172364.5(CACNA2D4):c.2342+96C>A
|
rs7137553
|
|
NM_172364.5(CACNA2D4):c.781+55_781+56insAAGAC
|
rs59151112
|
|
NM_174916.3(UBR1):c.81+32T>C
|
rs68062403
|
|
NM_177972.3(TUB):c.1388-22_1388-19del
|
rs66906803
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_178857.6(RP1L1):c.6418G>A (p.Glu2140Lys)
|
rs72494282
|
|
NM_194248.3(OTOF):c.2580C>G (p.Val860=)
|
rs2272069
|
|
NM_194248.3(OTOF):c.62C>T (p.Ala21Val)
|
rs2148144145
|
|
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys)
|
rs1064797127
|
|
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)
|
rs1660514556
|
|
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)
|
rs1660515780
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)
|
rs115352681
|
|
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
|
|
|
NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala)
|
rs781359016
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)
|
rs1664290387
|
|
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)
|
rs2125303672
|
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
|
|
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)
|
rs1664292210
|
|
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)
|
rs1553260314
|
|
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)
|
rs866822473
|
|
NM_201253.3(CRB1):c.1431del (p.Ser478fs)
|
rs1553260321
|
|
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)
|
rs963201816
|
|
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)
|
rs780580887
|
|
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
|
|
|
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg)
|
rs886043472
|
|
NM_201253.3(CRB1):c.1708G>A (p.Val570Met)
|
rs754482666
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu)
|
rs1034422363
|
|
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)
|
rs1664325377
|
|
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)
|
rs752212470
|
|
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal)
|
rs2125471114
|
|
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)
|
rs768905244
|
|
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu)
|
rs1238001290
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)
|
rs1204363918
|
|
NM_201253.3(CRB1):c.20_23del (p.Asn7fs)
|
rs2125193925
|
|
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
|
rs62636267
|
|
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu)
|
rs863224862
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)
|
rs2125483925
|
|
NM_201253.3(CRB1):c.2340C>T (p.Pro780=)
|
rs2125484301
|
|
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)
|
rs1009552469
|
|
NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn)
|
rs2125484835
|
|
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)
|
rs1664671663
|
|
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)
|
rs1085307972
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)
|
rs62636260
|
|
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
|
|
|
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)
|
rs1571544334
|
|
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
|
|
|
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)
|
rs574162883
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.2843-3dup
|
rs776525385
|
|
NM_201253.3(CRB1):c.291del (p.Lys97fs)
|
rs2125303994
|
|
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)
|
rs2125499116
|
|
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe)
|
rs910299744
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg)
|
rs1665062132
|
|
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe)
|
rs1665065652
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)
|
rs1452661857
|
|
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)
|
rs2125500431
|
|
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)
|
rs1558138741
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)
|
rs794727317
|
|
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
|
|
|
NM_201253.3(CRB1):c.3559A>T (p.Ile1187Phe)
|
rs371586216
|
|
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly)
|
rs1658671611
|
|
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln)
|
rs376271122
|
|
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs)
|
rs1366609497
|
|
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)
|
rs886045783
|
|
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
|
|
|
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)
|
rs1665279435
|
|
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
|
|
|
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)
|
rs2125506459
|
|
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)
|
rs1665282478
|
|
NM_201253.3(CRB1):c.3896del (p.Asp1299fs)
|
rs2125513602
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)
|
rs1665487563
|
|
NM_201253.3(CRB1):c.4005+1G>A
|
rs890453675
|
|
NM_201253.3(CRB1):c.4005+4AGC[3]
|
rs550852869
|
|
NM_201253.3(CRB1):c.4006-1G>T
|
rs752804194
|
|
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)
|
rs1667262233
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
|
|
|
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)
|
rs765740058
|
|
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)
|
rs767920858
|
|
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
|
rs1571848744
|
|
NM_201253.3(CRB1):c.506del (p.Gly169fs)
|
rs1167867158
|
|
NM_201253.3(CRB1):c.579T>C (p.Asp193=)
|
rs1382054822
|
|
NM_201253.3(CRB1):c.57dup (p.Ile20fs)
|
rs1343680080
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)
|
rs1658699227
|
|
NM_201253.3(CRB1):c.652+1G>A
|
rs2125304900
|
|
NM_201253.3(CRB1):c.653-1G>A
|
rs760287363
|
|
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs778731851
|
|
NM_201253.3(CRB1):c.70+1G>T
|
rs1237424465
|
|
NM_201253.3(CRB1):c.71delA
|
|
|
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)
|
rs1659650891
|
|
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)
|
rs886043587
|
|
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg)
|
rs1571877872
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
NM_201253.3(CRB1):c.989-53T>G
|
rs2786098
|
|
NM_201253.3(CRB1):c.998del (p.Gly333fs)
|
rs2125354244
|
|
NM_201548.5(CERKL):c.896-18T>C
|
rs13003064
|
|
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs)
|
rs1064797133
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)
|
rs1183957540
|
|
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)
|
rs1558097546
|
|
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn)
|
rs773660267
|
|
NM_206933.4(USH2A):c.10318del (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=)
|
rs563370514
|
|
NM_206933.4(USH2A):c.10398C>T (p.Leu3466=)
|
rs563370514
|
|
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)
|
rs1661687852
|
|
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
|
rs1553261469
|
|
NM_206933.4(USH2A):c.1041T>C (p.Asp347=)
|
rs2102655884
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg)
|
rs2102763446
|
|
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
|
|
|
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
|
|
|
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser)
|
rs2102762754
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
|
rs144560419
|
|
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
|
rs1259758261
|
|
NM_206933.4(USH2A):c.10740+7G>C
|
rs201206110
|
|
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn)
|
rs369507534
|
|
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=)
|
rs747834026
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
|
|
|
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
|
|
|
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
|
|
|
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
|
rs1661140054
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
|
rs527236139
|
|
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp)
|
rs928040621
|
|
NM_206933.4(USH2A):c.1116A>T (p.Ser372=)
|
rs754923350
|
|
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
|
rs1660922779
|
|
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
|
|
|
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val)
|
rs2102742157
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
|
rs762070900
|
|
NM_206933.4(USH2A):c.11389+14del
|
rs79494833
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
NM_206933.4(USH2A):c.11390-24CT[7]
|
rs140003076
|
|
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)
|
rs1553257673
|
|
NM_206933.4(USH2A):c.11548+2T>G
|
rs1371160062
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11549-5del
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549-5dup
|
rs34565443
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
|
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs)
|
rs1659891151
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
|
rs866937010
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12067-31del
|
rs5780842
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
|
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
|
|
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
|
rs1657997730
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
|
rs1657992342
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr)
|
rs187897763
|
|
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser)
|
rs187897763
|
|
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala)
|
rs1363933493
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys)
|
rs770065010
|
|
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
|
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
|
|
|
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.12703C>T (p.Gln4235Ter)
|
rs1657976232
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
|
rs727505117
|
|
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro)
|
rs1553252463
|
|
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
|
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
|
rs1657955894
|
|
NM_206933.4(USH2A):c.1299T>C (p.Pro433=)
|
rs1571702060
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs)
|
rs1657950450
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
|
rs2102665721
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
NM_206933.4(USH2A):c.1328+37_1328+40del
|
rs145313346
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)
|
rs111033417
|
|
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del)
|
rs111033408
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
|
rs1485393201
|
|
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)
|
rs775560370
|
|
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser)
|
rs2102664812
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=)
|
rs373694614
|
|
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
|
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
|
rs1657798642
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14134-9T>C
|
rs899521308
|
|
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp)
|
rs2102645078
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
|
|
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
|
rs766370703
|
|
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)
|
rs41315587
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14583-1G>T
|
|
|
NM_206933.4(USH2A):c.14595A>G (p.Gln4865=)
|
|
|
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly)
|
rs779400517
|
|
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala)
|
rs745580452
|
|
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
|
rs948087886
|
|
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)
|
rs1553250072
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.14787del (p.Glu4930fs)
|
rs34713174
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
NM_206933.4(USH2A):c.147T>C (p.Val49=)
|
rs1553258114
|
|
NM_206933.4(USH2A):c.14838G>T (p.Val4946=)
|
rs949583594
|
|
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
|
rs1656646221
|
|
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=)
|
rs397517993
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
|
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=)
|
rs397517998
|
|
NM_206933.4(USH2A):c.15144G>C (p.Ala5048=)
|
rs397517998
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
|
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
|
|
|
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=)
|
rs397518000
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
|
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
|
|
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)
|
rs774383785
|
|
NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)
|
rs755735339
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
NM_206933.4(USH2A):c.1645-8del
|
rs763490382
|
|
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser)
|
rs1064797139
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1722T>G (p.Pro574=)
|
rs397518002
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr)
|
rs2102610653
|
|
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro)
|
rs369806765
|
|
NM_206933.4(USH2A):c.1891G>C (p.Asp631His)
|
rs552400144
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter)
|
rs367693972
|
|
NM_206933.4(USH2A):c.2081G>C (p.Cys694Ser)
|
rs137954284
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg)
|
rs2102546492
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
|
rs1553320519
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)
|
rs2102545818
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)
|
rs1553320451
|
|
NM_206933.4(USH2A):c.2649dup (p.Pro884fs)
|
rs2036054600
|
|
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
|
rs776323626
|
|
NM_206933.4(USH2A):c.2775T>C (p.Asn925=)
|
rs779331611
|
|
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)
|
rs1438734382
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.2829C>A (p.Gly943=)
|
rs397518007
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
|
|
NM_206933.4(USH2A):c.2994-10T>G
|
rs748702655
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
|
|
|
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
|
rs1396798963
|
|
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)
|
rs111033377
|
|
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.3316+6T>C
|
rs373631038
|
|
NM_206933.4(USH2A):c.3317-25dup
|
rs376363548
|
|
NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=)
|
|
|
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
|
|
|
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.3680G>C (p.Gly1227Ala)
|
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364
|
|
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)
|
|
|
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
|
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
|
|
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)
|
rs2034908815
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)
|
rs372993160
|
|
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
|
rs372993160
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=)
|
rs727503733
|
|
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu)
|
rs778505422
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
|
|
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr)
|
rs2102460604
|
|
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser)
|
rs752569816
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4251+1G>T
|
rs878853405
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.4251+3A>G
|
rs1181655123
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
NM_206933.4(USH2A):c.4252-15dup
|
rs770949401
|
|
NM_206933.4(USH2A):c.4252-36CTTT[5]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs)
|
rs1475129324
|
|
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro)
|
rs369185265
|
|
NM_206933.4(USH2A):c.4335T>G (p.Thr1445=)
|
rs397518016
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
NM_206933.4(USH2A):c.4628-2A>G
|
rs2032462132
|
|
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=)
|
rs727503729
|
|
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter)
|
rs2032459600
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
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.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp)
|
rs2102561202
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
|
|
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu)
|
rs2102559662
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu)
|
rs748792761
|
|
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
|
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr)
|
rs755032078
|
|
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter)
|
rs761075303
|
|
NM_206933.4(USH2A):c.5573-34del
|
rs35944387
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
|
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser)
|
rs1162070622
|
|
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe)
|
rs761586978
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val)
|
rs2031607385
|
|
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
|
rs2031607129
|
|
NM_206933.4(USH2A):c.5857+1G>C
|
rs2031604509
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5919G>A (p.Val1973=)
|
rs2102546199
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
|
rs781022362
|
|
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
|
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=)
|
rs727503726
|
|
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=)
|
rs1052386893
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu)
|
rs111033514
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
|
rs768233523
|
|
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del)
|
rs776262139
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
|
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=)
|
rs773734876
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
|
rs1668203744
|
|
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=)
|
rs876657629
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=)
|
rs1487136272
|
|
NM_206933.4(USH2A):c.6711C>T (p.Asp2237=)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.6805+1G>T
|
rs1553285919
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
NM_206933.4(USH2A):c.687C>A (p.Gly229=)
|
rs766740504
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
|
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
NM_206933.4(USH2A):c.7121-14del
|
rs536181325
|
|
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=)
|
rs1269441158
|
|
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro)
|
rs2102499658
|
|
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr)
|
rs780840434
|
|
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
|
rs1195779037
|
|
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
|
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=)
|
rs577063450
|
|
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu)
|
rs774559456
|
|
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe)
|
rs397518033
|
|
NM_206933.4(USH2A):c.775_776del (p.Ser259fs)
|
rs2038566220
|
|
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)
|
rs747492773
|
|
NM_206933.4(USH2A):c.7770A>G (p.Leu2590=)
|
rs1665138334
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter)
|
rs775921966
|
|
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)
|
rs1558146243
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe)
|
rs1413784848
|
|
NM_206933.4(USH2A):c.8355T>G (p.Pro2785=)
|
rs2102451831
|
|
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
|
rs2102658782
|
|
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala)
|
rs886044303
|
|
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=)
|
rs753719500
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
|
|
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8681+2T>C
|
rs2102450642
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
|
|
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=)
|
rs371183424
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)
|
rs886043586
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
|
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
|
rs760448755
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg)
|
rs373286445
|
|
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
|
rs1558121260
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9391dup (p.Val3131fs)
|
rs2102796558
|
|
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=)
|
rs876657631
|
|
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238
|
|
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
|
rs1553265812
|
|
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
|
rs1662771528
|
|
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter)
|
rs1662226257
|
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
|
|
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)
|
rs1662225145
|
|
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)
|
rs137876918
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter)
|
rs2039690812
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr)
|
rs2102770144
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|