NM_173477.5(USH1G):c.*371=
|
rs1288389465
|
0.99999
|
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378
|
0.97324
|
NM_153676.4(USH1C):c.2656-260A>G
|
rs7108947
|
0.95611
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93887
|
NM_022124.6(CDH23):c.1753-43T>C
|
rs1227042
|
0.92700
|
NM_000260.4(MYO7A):c.6558+51G>T
|
rs948959
|
0.92365
|
NM_032119.4(ADGRV1):c.18625-7T>C
|
rs7726023
|
0.91136
|
NM_206933.4(USH2A):c.4082-66A>C
|
rs386851
|
0.90547
|
NM_022124.6(CDH23):c.4846-16805A>C
|
rs3747869
|
0.90370
|
NM_000260.4(MYO7A):c.6438+50A>T
|
rs2276289
|
0.86951
|
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=)
|
rs807022
|
0.81877
|
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr)
|
rs807023
|
0.81454
|
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)
|
rs1227065
|
0.79969
|
NM_174878.3(CLRN1):c.254-1924T>A
|
rs6764540
|
0.79708
|
NM_022124.6(CDH23):c.4206+131T>C
|
rs1227061
|
0.77987
|
NM_022124.6(CDH23):c.4206+61T>A
|
rs1227062
|
0.77967
|
NM_001384140.1(PCDH15):c.2869-109T>C
|
rs2456699
|
0.77608
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928
|
0.76852
|
NM_174878.3(CLRN1):c.*372C>T
|
rs4680058
|
0.76596
|
NM_015404.4(WHRN):c.1353T>C (p.Gly451=)
|
rs4979387
|
0.76260
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773
|
0.76168
|
NM_174878.3(CLRN1):c.*315C>T
|
rs1456138
|
0.76070
|
NM_001384140.1(PCDH15):c.3374-72A>G
|
rs2593124
|
0.75471
|
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)
|
rs2797235
|
0.74921
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
NM_022124.6(CDH23):c.146-125T>C
|
rs2297953
|
0.74120
|
NM_001384140.1(PCDH15):c.3374-68T>G
|
rs10740559
|
0.74015
|
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)
|
rs1878878
|
0.74010
|
NM_022124.6(CDH23):c.429+26A>G
|
rs3802718
|
0.73928
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
NM_022124.6(CDH23):c.366T>C (p.Val122=)
|
rs3802720
|
0.73608
|
NM_001384140.1(PCDH15):c.705+93C>T
|
rs857395
|
0.73456
|
NM_022124.6(CDH23):c.429+13G>A
|
rs3802719
|
0.73455
|
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)
|
rs1227051
|
0.73390
|
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)
|
rs10779261
|
0.73169
|
NM_022124.6(CDH23):c.4618-77C>T
|
rs1227052
|
0.72986
|
NM_032119.4(ADGRV1):c.9907-35A>C
|
rs7723259
|
0.72915
|
NM_001384140.1(PCDH15):c.3010-48G>A
|
rs2593107
|
0.70420
|
NM_001384140.1(PCDH15):c.706-8C>T
|
rs10740579
|
0.70404
|
NM_001384140.1(PCDH15):c.986-81C>T
|
rs10763086
|
0.69404
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
NM_001195263.2(PDZD7):c.367+7A>G
|
rs6584410
|
0.63499
|
NM_000260.4(MYO7A):c.5944+57G>A
|
rs948961
|
0.63248
|
NM_000260.4(MYO7A):c.2905-54A>G
|
rs7117606
|
0.62793
|
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys)
|
rs1805049
|
0.62790
|
NM_000260.4(MYO7A):c.5743-12T>C
|
rs2276291
|
0.62749
|
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_022124.6(CDH23):c.1134+164C>G
|
rs7903772
|
0.61986
|
NM_000260.4(MYO7A):c.3750+89C>T
|
rs2276286
|
0.61886
|
NM_206933.4(USH2A):c.504A>G (p.Thr168=)
|
rs4253963
|
0.61366
|
NM_000260.4(MYO7A):c.3751-94C>G
|
rs7947922
|
0.61160
|
NM_000260.4(MYO7A):c.2367+67T>C
|
rs10793239
|
0.60184
|
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys)
|
rs2276288
|
0.59864
|
NM_001384140.1(PCDH15):c.2751+37C>T
|
rs3812658
|
0.59606
|
NM_000260.4(MYO7A):c.4324-207C>G
|
rs12802853
|
0.59234
|
NM_000260.4(MYO7A):c.4323+35G>T
|
rs1109977
|
0.59156
|
NM_206933.4(USH2A):c.10388-27T>C
|
rs7518466
|
0.59074
|
NM_000260.4(MYO7A):c.5480+162C>G
|
rs11237120
|
0.59043
|
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)
|
rs10864198
|
0.58403
|
NM_000260.4(MYO7A):c.4324-202A>G
|
rs12421897
|
0.58253
|
NM_000260.4(MYO7A):c.5637-175A>G
|
rs4945160
|
0.58129
|
NM_153676.4(USH1C):c.-183T>G
|
rs1859819
|
0.57861
|
NM_000260.4(MYO7A):c.3109-68G>A
|
rs2276287
|
0.57823
|
NM_000260.4(MYO7A):c.5481-83A>G
|
rs11237121
|
0.57347
|
NM_153676.4(USH1C):c.1086-45A>G
|
rs2041031
|
0.57266
|
NM_153676.4(USH1C):c.1086-42G>A
|
rs2108332
|
0.57242
|
NM_000260.4(MYO7A):c.5856+50G>A
|
rs2276290
|
0.56770
|
NM_153676.4(USH1C):c.760-66T>C
|
rs4757539
|
0.56732
|
NM_153676.4(USH1C):c.1086-108A>G
|
rs2041032
|
0.56388
|
NM_153676.4(USH1C):c.37-45C>G
|
rs2240489
|
0.56124
|
NM_000260.4(MYO7A):c.6051+17T>A
|
rs1320702
|
0.56090
|
NM_000260.4(MYO7A):c.5857-7A>T
|
rs1320703
|
0.56045
|
NM_000260.4(MYO7A):c.5944+67C>T
|
rs948960
|
0.55877
|
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=)
|
rs2276293
|
0.55864
|
NM_001267727.2(ARSG):c.765T>C (p.Pro255=)
|
rs1558877
|
0.55737
|
NM_206933.4(USH2A):c.3157+35G>A
|
rs1324330
|
0.54884
|
NM_174878.3(CLRN1):c.254-1947A>G
|
rs6801898
|
0.54588
|
NM_032119.4(ADGRV1):c.10161+26G>T
|
rs4916815
|
0.53367
|
NM_000260.4(MYO7A):c.1936-23G>A
|
rs2276283
|
0.52888
|
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=)
|
rs2438349
|
0.52519
|
NM_153676.4(USH1C):c.1188A>G (p.Pro396=)
|
rs2240487
|
0.52010
|
NM_022124.6(CDH23):c.4488+32C>G
|
rs10762474
|
0.51502
|
NM_022124.6(CDH23):c.1135-128A>G
|
rs10823810
|
0.51167
|
NM_001384140.1(PCDH15):c.92-52T>G
|
rs10825347
|
0.51006
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50863
|
NM_000260.4(MYO7A):c.3924+12C>T
|
rs2276285
|
0.50565
|
NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667
|
0.50077
|
NM_022124.6(CDH23):c.1753-78A>T
|
rs3802717
|
0.49901
|
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)
|
rs1064074
|
0.48497
|
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr)
|
rs942519
|
0.48457
|
NM_001195794.1(CLRN1):c.-71A>G
|
rs3796240
|
0.48434
|
NM_000260.4(MYO7A):c.2905-162T>G
|
rs59698916
|
0.48260
|
NM_153676.4(USH1C):c.1413+52C>T
|
rs2190453
|
0.47939
|
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=)
|
rs7927472
|
0.47421
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_000260.4(MYO7A):c.1080+65T>C
|
rs4944145
|
0.46104
|
NM_153676.4(USH1C):c.37-61A>G
|
rs878546
|
0.45653
|
NM_153676.4(USH1C):c.*211A>G
|
rs1055581
|
0.45185
|
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)
|
rs2247870
|
0.45079
|
NM_153676.4(USH1C):c.*46T>C
|
rs1055574
|
0.44023
|
NM_001384140.1(PCDH15):c.4367+119T>C
|
rs10740555
|
0.43920
|
NM_153676.4(USH1C):c.*186C>T
|
rs1055577
|
0.43773
|
NM_001267727.2(ARSG):c.820T>C (p.Trp274Arg)
|
rs1558878
|
0.43728
|
NM_153676.4(USH1C):c.1085+21C>G
|
rs2240488
|
0.43168
|
NM_022124.6(CDH23):c.832+101G>A
|
rs6480531
|
0.42446
|
NM_153676.4(USH1C):c.105-16C>T
|
rs2041027
|
0.41751
|
NM_022124.6(CDH23):c.4846-49T>C
|
rs7917781
|
0.41449
|
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala)
|
rs2274159
|
0.41305
|
NM_206933.4(USH2A):c.11390-55C>T
|
rs4053764
|
0.41199
|
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser)
|
rs11592462
|
0.40879
|
NM_001384140.1(PCDH15):c.4203-151C>A
|
rs4935096
|
0.39794
|
NM_001384140.1(PCDH15):c.4203-162T>C
|
rs4935472
|
0.39728
|
NM_022124.6(CDH23):c.5187+99T>C
|
rs10762481
|
0.39527
|
NM_001195263.2(PDZD7):c.1749+43del
|
rs34125357
|
0.39336
|
NM_153676.4(USH1C):c.36+214C>T
|
rs7125811
|
0.39186
|
NM_206933.4(USH2A):c.848+103C>G
|
rs1339963
|
0.38613
|
NM_001384140.1(PCDH15):c.3984-20C>T
|
rs7089209
|
0.38289
|
NM_153676.4(USH1C):c.2656-47C>T
|
rs2072225
|
0.38117
|
NM_022124.6(CDH23):c.-5-83C>A
|
rs4747153
|
0.37515
|
NM_022124.6(CDH23):c.4846-4260A>G
|
rs3747862
|
0.36603
|
NM_173477.5(USH1G):c.*1900G>C
|
rs1568448
|
0.36197
|
NM_015404.4(WHRN):c.-510G>A
|
rs10759714
|
0.36192
|
NM_001267727.2(ARSG):c.707C>G (p.Thr236Ser)
|
rs1558876
|
0.36075
|
NM_206933.4(USH2A):c.10585+143A>C
|
rs6665799
|
0.36073
|
NM_153676.4(USH1C):c.2547-11T>C
|
rs10832795
|
0.35821
|
NM_015404.4(WHRN):c.-391C>A
|
rs4527950
|
0.35348
|
NM_001384140.1(PCDH15):c.3717+35T>C
|
rs10825135
|
0.35243
|
NM_022124.6(CDH23):c.624+64C>T
|
rs7087735
|
0.34986
|
NM_000260.4(MYO7A):c.6439-31G>A
|
rs883223
|
0.34666
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)
|
rs2797234
|
0.33839
|
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)
|
rs10037067
|
0.33794
|
NM_022124.6(CDH23):c.2060-176C>T
|
rs2290026
|
0.33232
|
NM_015404.4(WHRN):c.-91C>T
|
rs2297814
|
0.33038
|
NM_015404.4(WHRN):c.117G>A (p.Val39=)
|
rs2297815
|
0.33019
|
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)
|
rs4916685
|
0.32702
|
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)
|
rs2366926
|
0.31467
|
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)
|
rs16876822
|
0.31193
|
NM_153676.4(USH1C):c.522-45del
|
rs5789990
|
0.31188
|
NM_032119.4(ADGRV1):c.6952-10G>A
|
rs10040165
|
0.31172
|
NM_153676.4(USH1C):c.580-27G>A
|
rs6486378
|
0.30297
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042
|
0.30112
|
NM_001195263.2(PDZD7):c.1934-55C>T
|
rs807020
|
0.28888
|
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln)
|
rs4747194
|
0.28536
|
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)
|
rs10466026
|
0.28442
|
NM_206933.4(USH2A):c.1644+34A>C
|
rs7515253
|
0.28314
|
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu)
|
rs4747195
|
0.27841
|
NM_206933.4(USH2A):c.1419C>T (p.Thr473=)
|
rs1805050
|
0.27840
|
NM_022124.6(CDH23):c.6830-81G>A
|
rs7068357
|
0.27610
|
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=)
|
rs10823849
|
0.27588
|
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys)
|
rs10062026
|
0.27574
|
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn)
|
rs10999947
|
0.27136
|
NM_022124.6(CDH23):c.1987-123G>A
|
rs1227087
|
0.26320
|
NM_001384140.1(PCDH15):c.594+232A>G
|
rs2153822
|
0.25547
|
NM_022124.6(CDH23):c.2059+79C>T
|
rs1227086
|
0.25536
|
NM_000260.4(MYO7A):c.6354+35G>A
|
rs3819170
|
0.25401
|
NM_206933.4(USH2A):c.11711+71A>T
|
rs6694510
|
0.25183
|
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=)
|
rs11237123
|
0.24897
|
NM_000260.4(MYO7A):c.4442-113A>G
|
rs3781692
|
0.24810
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23805
|
NM_206933.4(USH2A):c.8559-65T>C
|
rs7518358
|
0.23802
|
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=)
|
rs7921598
|
0.23801
|
NM_153676.4(USH1C):c.579+61G>A
|
rs72870320
|
0.23593
|
NM_015404.4(WHRN):c.1627-12G>A
|
rs2274160
|
0.23283
|
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln)
|
rs2135720
|
0.22399
|
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269
|
0.22253
|
NM_001384140.1(PCDH15):c.2220+47T>C
|
rs3812657
|
0.22115
|
NM_153676.4(USH1C):c.2340C>T (p.Val780=)
|
rs10832796
|
0.21080
|
NM_022124.6(CDH23):c.5503-44T>C
|
rs7068810
|
0.20565
|
NM_173477.5(USH1G):c.*1303C>T
|
rs1013013
|
0.20471
|
NM_206933.4(USH2A):c.4627+1038T>C
|
rs439940
|
0.20450
|
NM_206933.4(USH2A):c.4627+1142G>T
|
rs401269
|
0.20367
|
NM_206933.4(USH2A):c.3812-8T>G
|
rs646094
|
0.20360
|
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala)
|
rs11004439
|
0.20319
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570
|
0.20300
|
NM_174878.3(CLRN1):c.254-2294A>C
|
rs11914988
|
0.20293
|
NM_001384140.1(PCDH15):c.319-31T>C
|
rs11594958
|
0.20278
|
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_000260.4(MYO7A):c.133-88C>T
|
rs12279716
|
0.19963
|
NM_173477.5(USH1G):c.*1093=
|
rs690566
|
0.19902
|
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=)
|
rs10762480
|
0.19882
|
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584
|
0.19569
|
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)
|
rs2274158
|
0.19185
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19033
|
NM_002109.6(HARS1):c.1458+7G>A
|
rs58302597
|
0.18812
|
NM_000260.4(MYO7A):c.6558+16G>A
|
rs883224
|
0.18738
|
NM_032119.4(ADGRV1):c.2735-34C>G
|
rs16868901
|
0.18176
|
NM_032119.4(ADGRV1):c.2241-19G>T
|
rs1344030
|
0.17743
|
NM_001384140.1(PCDH15):c.1306-4123C>T
|
rs16905686
|
0.17435
|
NM_001384140.1(PCDH15):c.4671+1344A>C
|
rs11003863
|
0.17427
|
NM_206933.4(USH2A):c.4082-44G>A
|
rs447102
|
0.17427
|
NM_022124.6(CDH23):c.3370-46T>C
|
rs3802712
|
0.17108
|
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)
|
rs56110889
|
0.16907
|
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)
|
rs2820718
|
0.16805
|
NM_153676.4(USH1C):c.1414-34G>A
|
rs2237964
|
0.16783
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala)
|
rs4935502
|
0.15952
|
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=)
|
rs950692
|
0.15398
|
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)
|
rs17554631
|
0.15392
|
NM_022124.6(CDH23):c.9077+8G>A
|
rs11818398
|
0.15161
|
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=)
|
rs10823829
|
0.15109
|
NM_022124.6(CDH23):c.5503-10A>G
|
rs2394839
|
0.15070
|
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)
|
rs2009923
|
0.15011
|
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile)
|
rs17712523
|
0.14757
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
NM_022124.6(CDH23):c.4846-79G>A
|
rs41281328
|
0.14363
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln)
|
rs3802711
|
0.14136
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022
|
0.13799
|
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=)
|
rs10825114
|
0.13541
|
NM_022124.6(CDH23):c.1290+217T>C
|
rs2305208
|
0.13525
|
NM_206933.4(USH2A):c.4628-63C>T
|
rs7540411
|
0.13052
|
NM_022124.6(CDH23):c.3431-133T>C
|
rs12263420
|
0.12876
|
NM_022124.6(CDH23):c.3431-205A>C
|
rs12240855
|
0.12869
|
NM_206933.4(USH2A):c.11389+9A>T
|
rs12095085
|
0.12571
|
NM_153676.4(USH1C):c.2490+12G>C
|
rs2072232
|
0.12422
|
NM_015404.4(WHRN):c.2283C>T (p.Ser761=)
|
rs34963246
|
0.12235
|
NM_174878.3(CLRN1):c.57A>T (p.Ala19=)
|
rs3796242
|
0.12205
|
NM_000260.4(MYO7A):c.736-47C>A
|
rs3737454
|
0.11805
|
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)
|
rs7902757
|
0.11710
|
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)
|
rs13158963
|
0.11513
|
NM_153676.4(USH1C):c.2381-46G>A
|
rs2072233
|
0.11063
|
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)
|
rs11000009
|
0.10970
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10848
|
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)
|
rs56222536
|
0.09942
|
NM_153676.4(USH1C):c.37-47G>T
|
rs2355022
|
0.09867
|
NM_153676.4(USH1C):c.2226+197G>A
|
rs12270644
|
0.09831
|
NM_153676.4(USH1C):c.521+56A>G
|
rs41282940
|
0.09720
|
NM_206933.4(USH2A):c.6957+19A>G
|
rs6689120
|
0.09663
|
NM_001384140.1(PCDH15):c.157+3A>G
|
rs41274636
|
0.09581
|
NM_000260.4(MYO7A):c.1004-35C>G
|
rs2071151
|
0.09483
|
NM_001384140.1(PCDH15):c.157+59097T>C
|
rs75443986
|
0.09222
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.09167
|
NM_174878.3(CLRN1):c.*884A>C
|
rs12635299
|
0.09087
|
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala)
|
rs12339210
|
0.09064
|
NM_153676.4(USH1C):c.1086-12G>A
|
rs11024318
|
0.09048
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.08314
|
NM_022124.6(CDH23):c.-1C>T
|
rs41281302
|
0.08269
|
NM_022124.6(CDH23):c.7225-22C>T
|
rs3802708
|
0.07941
|
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)
|
rs12404427
|
0.07575
|
NM_206933.4(USH2A):c.11390-53C>T
|
rs6540907
|
0.07479
|
NM_002109.6(HARS1):c.588C>T (p.Cys196=)
|
rs2230361
|
0.07468
|
NM_001384140.1(PCDH15):c.2752-75C>G
|
rs2253647
|
0.07354
|
NM_000260.4(MYO7A):c.*504C>T
|
rs34765389
|
0.07204
|
NM_001384140.1(PCDH15):c.1591-68G>A
|
rs41274632
|
0.07144
|
NM_032119.4(ADGRV1):c.8730+10_8730+11insC
|
rs377585302
|
0.07015
|
NM_022124.6(CDH23):c.1053C>T (p.Ser351=)
|
rs7903475
|
0.06973
|
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met)
|
rs17544552
|
0.06931
|
NM_173477.5(USH1G):c.*1656T>C
|
rs8067775
|
0.06899
|
NM_206933.4(USH2A):c.11231+45C>T
|
rs17025373
|
0.06476
|
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile)
|
rs13157270
|
0.06417
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_000260.4(MYO7A):c.593-5C>T
|
rs762666
|
0.05825
|
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)
|
rs17543819
|
0.05741
|
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu)
|
rs16869016
|
0.05655
|
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)
|
rs4129843
|
0.05590
|
NM_022124.6(CDH23):c.625-93G>A
|
rs736717
|
0.05549
|
NM_022124.6(CDH23):c.3580-12C>T
|
rs73275848
|
0.05331
|
NM_001384140.1(PCDH15):c.2868+69G>A
|
rs11003980
|
0.05327
|
NM_153676.4(USH1C):c.2226+12C>T
|
rs17703528
|
0.05274
|
NM_206933.4(USH2A):c.652-80T>C
|
rs45594833
|
0.05185
|
NM_022124.6(CDH23):c.67+12C>T
|
rs74144963
|
0.05182
|
NM_206933.4(USH2A):c.4627+145T>G
|
rs55761862
|
0.05054
|
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val)
|
rs1805048
|
0.05002
|
NM_000260.4(MYO7A):c.4441+148A>G
|
rs4944149
|
0.04997
|
NM_153676.4(USH1C):c.2134-12T>C
|
rs76769358
|
0.04923
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_206933.4(USH2A):c.8681+120G>A
|
rs56301415
|
0.04758
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg)
|
rs7729495
|
0.04586
|
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
NM_032119.4(ADGRV1):c.*60A>G
|
rs41311627
|
0.04341
|
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)
|
rs77469944
|
0.04236
|
NM_000260.4(MYO7A):c.4441+89T>C
|
rs11237115
|
0.04202
|
NM_173477.5(USH1G):c.*571T>A
|
rs111611253
|
0.04134
|
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)
|
rs56053654
|
0.04078
|
NM_206933.4(USH2A):c.7300+43C>T
|
rs41277206
|
0.04068
|
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)
|
rs61635304
|
0.04056
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=)
|
rs10999978
|
0.03956
|
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser)
|
rs41277194
|
0.03943
|
NM_174878.3(CLRN1):c.*964C>T
|
rs16863066
|
0.03941
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334
|
0.03832
|
NM_174878.3(CLRN1):c.6A>C (p.Pro2=)
|
rs111033422
|
0.03830
|
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)
|
rs79854148
|
0.03803
|
NM_022124.6(CDH23):c.-258G>A
|
rs139742443
|
0.03782
|
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr)
|
rs79444516
|
0.03766
|
NM_174878.3(CLRN1):c.433+1105C>T
|
rs16846663
|
0.03733
|
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys)
|
rs111033466
|
0.03715
|
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447
|
0.03706
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03680
|
NM_173477.5(USH1G):c.*1990A>G
|
rs113905467
|
0.03609
|
NM_000260.4(MYO7A):c.4441+195G>A
|
rs4945157
|
0.03562
|
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)
|
rs62000408
|
0.03559
|
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn)
|
rs11120645
|
0.03545
|
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=)
|
rs35092519
|
0.03534
|
NM_153676.4(USH1C):c.1770C>T (p.Ala590=)
|
rs17776775
|
0.03494
|
NM_001384140.1(PCDH15):c.4368-1214G>C
|
rs16937780
|
0.03481
|
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys)
|
rs16868974
|
0.03455
|
NM_000260.4(MYO7A):c.*230A>G
|
rs112830819
|
0.03328
|
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala)
|
rs56032526
|
0.03269
|
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=)
|
rs17624033
|
0.03213
|
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=)
|
rs3763073
|
0.03149
|
NM_000260.4(MYO7A):c.468C>T (p.Ile156=)
|
rs12420129
|
0.03116
|
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)
|
rs12118814
|
0.03107
|
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=)
|
rs111033209
|
0.03064
|
NM_015404.4(WHRN):c.1515G>A (p.Ala505=)
|
rs34252199
|
0.03063
|
NM_002109.6(HARS1):c.951+19G>A
|
rs73271581
|
0.03048
|
NM_206933.4(USH2A):c.4627+699C>A
|
rs59704861
|
0.03041
|
NM_206933.4(USH2A):c.10836C>A (p.Val3612=)
|
rs61276761
|
0.02977
|
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg)
|
rs41311333
|
0.02974
|
NM_022124.6(CDH23):c.2060-19C>G
|
rs2290024
|
0.02940
|
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser)
|
rs61731389
|
0.02908
|
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)
|
rs1132036
|
0.02851
|
NM_015404.4(WHRN):c.-257C>G
|
rs73555447
|
0.02716
|
NM_173477.5(USH1G):c.*553A>C
|
rs111899313
|
0.02634
|
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=)
|
rs41298757
|
0.02484
|
NM_000260.4(MYO7A):c.5326+13C>T
|
rs114157944
|
0.02453
|
NM_153676.4(USH1C):c.651A>G (p.Val217=)
|
rs75977878
|
0.02410
|
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=)
|
rs41274634
|
0.02389
|
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu)
|
rs111033183
|
0.02384
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=)
|
rs78871677
|
0.02377
|
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)
|
rs73175207
|
0.02358
|
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)
|
rs41304083
|
0.02357
|
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=)
|
rs74327115
|
0.02341
|
NM_015404.4(WHRN):c.-204C>G
|
rs145985595
|
0.02340
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
NM_153676.4(USH1C):c.294C>T (p.Leu98=)
|
rs34055234
|
0.02295
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=)
|
rs16869039
|
0.02278
|
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=)
|
rs41281332
|
0.02260
|
NM_022124.6(CDH23):c.1134+13A>G
|
rs7903502
|
0.02225
|
NM_206933.4(USH2A):c.7300+29A>G
|
rs41277208
|
0.02225
|
NM_173477.5(USH1G):c.*1224A>C
|
rs111922548
|
0.02221
|
NM_173477.5(USH1G):c.*63C>T
|
rs113765180
|
0.02217
|
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)
|
rs61753944
|
0.02215
|
NM_001384140.1(PCDH15):c.3718-19C>A
|
rs75248212
|
0.02169
|
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=)
|
rs10067298
|
0.02160
|
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=)
|
rs55964031
|
0.02131
|
NM_001384140.1(PCDH15):c.3374-4C>T
|
rs111739360
|
0.02123
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430
|
0.02084
|
NM_000260.4(MYO7A):c.288G>A (p.Thr96=)
|
rs56023295
|
0.02082
|
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_015404.4(WHRN):c.*438T>G
|
rs114641960
|
0.02029
|
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His)
|
rs41277210
|
0.02015
|
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)
|
rs73495790
|
0.01973
|
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu)
|
rs10067636
|
0.01966
|
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)
|
rs75191159
|
0.01965
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01940
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.01913
|
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)
|
rs111033231
|
0.01911
|
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=)
|
rs80033599
|
0.01906
|
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met)
|
rs2460169
|
0.01906
|
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)
|
rs111033381
|
0.01895
|
NM_000260.4(MYO7A):c.*363A>C
|
rs115872143
|
0.01894
|
NM_000260.4(MYO7A):c.6052-11G>C
|
rs112564978
|
0.01883
|
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)
|
rs61745498
|
0.01883
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=)
|
rs9293547
|
0.01831
|
NM_173477.5(USH1G):c.*1112C>T
|
rs114353953
|
0.01825
|
NM_206933.4(USH2A):c.8682-53A>G
|
rs115882431
|
0.01767
|
NM_022124.6(CDH23):c.2424G>A (p.Gly808=)
|
rs76601590
|
0.01745
|
NM_022124.6(CDH23):c.2958G>A (p.Leu986=)
|
rs74702249
|
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_000260.4(MYO7A):c.5619G>A (p.Arg1873=)
|
rs45450893
|
0.01687
|
NM_022124.6(CDH23):c.4359+11G>A
|
rs12242607
|
0.01676
|
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val)
|
rs79915053
|
0.01674
|
NM_153676.4(USH1C):c.-60T>C
|
rs371444878
|
0.01608
|
NM_022124.6(CDH23):c.4210-7C>T
|
rs79271090
|
0.01600
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_032119.4(ADGRV1):c.-98G>A
|
rs7706355
|
0.01569
|
NM_206933.4(USH2A):c.5857+17A>C
|
rs74766738
|
0.01568
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939
|
0.01553
|
NM_032119.4(ADGRV1):c.2735-10C>A
|
rs78625945
|
0.01542
|
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=)
|
rs12218564
|
0.01509
|
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser)
|
rs115931035
|
0.01479
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01464
|
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)
|
rs45555435
|
0.01452
|
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=)
|
rs56013136
|
0.01440
|
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=)
|
rs111033472
|
0.01438
|
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met)
|
rs111033488
|
0.01431
|
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp)
|
rs111033496
|
0.01426
|
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=)
|
rs16869083
|
0.01418
|
NM_206933.4(USH2A):c.8681+18A>G
|
rs41277198
|
0.01418
|
NM_000260.4(MYO7A):c.286-5C>T
|
rs111033471
|
0.01415
|
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=)
|
rs41303346
|
0.01390
|
NM_015404.4(WHRN):c.-295C>G
|
rs7861589
|
0.01381
|
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=)
|
rs41304884
|
0.01380
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01345
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_022124.6(CDH23):c.204C>T (p.Gly68=)
|
rs116624130
|
0.01307
|
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg)
|
rs61732490
|
0.01304
|
NM_153676.4(USH1C):c.2184+21T>G
|
rs75810555
|
0.01302
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01295
|
NM_206933.4(USH2A):c.4627+32G>T
|
rs75662936
|
0.01284
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01274
|
NM_001384140.1(PCDH15):c.4368-1207C>T
|
rs74134797
|
0.01267
|
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)
|
rs111033230
|
0.01192
|
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu)
|
rs41302237
|
0.01191
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_022124.6(CDH23):c.1423G>A (p.Val475Met)
|
rs62622410
|
0.01173
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01149
|
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)
|
rs41303257
|
0.01136
|
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)
|
rs77791584
|
0.01133
|
NM_206933.4(USH2A):c.5572+15G>A
|
rs17026052
|
0.01126
|
NM_206933.4(USH2A):c.7301-65C>T
|
rs41277204
|
0.01115
|
NM_153676.4(USH1C):c.819+10G>C
|
rs41282936
|
0.01105
|
NM_032119.4(ADGRV1):c.7945+6C>T
|
rs139278305
|
0.01100
|
NM_022124.6(CDH23):c.1038G>A (p.Pro346=)
|
rs74608315
|
0.01088
|
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)
|
rs111033530
|
0.01088
|
NC_000011.10:g.77215256C>T
|
rs35776264
|
0.01078
|
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=)
|
rs78072361
|
0.01074
|
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile)
|
rs35791889
|
0.01061
|
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=)
|
rs111033397
|
0.01048
|
NM_020989.4(CRYGC):c.143G>A (p.Arg48His)
|
rs61751949
|
0.01047
|
NM_032119.4(ADGRV1):c.-47G>C
|
rs116110048
|
0.01017
|
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val)
|
rs16868935
|
0.01001
|
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile)
|
rs80028391
|
0.00999
|
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=)
|
rs75480336
|
0.00991
|
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_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)
|
rs78253373
|
0.00962
|
NM_022124.6(CDH23):c.1515-25T>A
|
rs111309167
|
0.00958
|
NM_032119.4(ADGRV1):c.1839+7G>A
|
rs142011700
|
0.00957
|
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)
|
rs115884084
|
0.00956
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.00950
|
NM_173477.5(USH1G):c.*940C>G
|
rs112293979
|
0.00924
|
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)
|
rs114819374
|
0.00896
|
NM_000260.4(MYO7A):c.*442T>C
|
rs115238711
|
0.00895
|
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr)
|
rs61749567
|
0.00875
|
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile)
|
rs61735473
|
0.00870
|
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=)
|
rs11000010
|
0.00861
|
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile)
|
rs147835286
|
0.00845
|
NM_001384140.1(PCDH15):c.475-3C>T
|
rs41304641
|
0.00837
|
NM_174878.3(CLRN1):c.*298T>C
|
rs769104257
|
0.00837
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00828
|
NM_001384140.1(PCDH15):c.4367+88A>G
|
rs45466098
|
0.00798
|
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)
|
rs34581703
|
0.00789
|
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp)
|
rs113447586
|
0.00777
|
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)
|
rs34705415
|
0.00775
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_206933.4(USH2A):c.8558+40C>A
|
rs55713064
|
0.00762
|
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)
|
rs35963362
|
0.00745
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00742
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00732
|
NM_173477.5(USH1G):c.*680C>G
|
rs55744500
|
0.00727
|
NM_022124.6(CDH23):c.*173C>T
|
rs143222936
|
0.00719
|
NM_000260.4(MYO7A):c.*392A>G
|
rs144527614
|
0.00712
|
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)
|
rs74632023
|
0.00712
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_206933.4(USH2A):c.11048-15C>T
|
rs74141403
|
0.00691
|
NM_173477.5(USH1G):c.*1053G>A
|
rs113583471
|
0.00690
|
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=)
|
rs6660707
|
0.00683
|
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val)
|
rs77821631
|
0.00682
|
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)
|
rs41281338
|
0.00677
|
NM_206933.4(USH2A):c.9959-11T>G
|
rs116150014
|
0.00669
|
NM_000260.4(MYO7A):c.133-14C>T
|
rs116228809
|
0.00668
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)
|
rs111033461
|
0.00664
|
NM_153676.4(USH1C):c.*405C>G
|
rs11827649
|
0.00654
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00651
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00648
|
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)
|
rs79805606
|
0.00647
|
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile)
|
rs75397806
|
0.00645
|
NM_022124.6(CDH23):c.8980-14C>A
|
rs45522532
|
0.00642
|
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser)
|
rs61731030
|
0.00638
|
NM_032119.4(ADGRV1):c.10769+9A>G
|
rs116184119
|
0.00631
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)
|
rs111033507
|
0.00617
|
NM_001195794.1(CLRN1):c.-289G>A
|
rs55842922
|
0.00616
|
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr)
|
rs61730754
|
0.00615
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00614
|
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)
|
rs56204273
|
0.00613
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00612
|
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)
|
rs36090425
|
0.00608
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
0.00593
|
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)
|
rs78741041
|
0.00588
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys)
|
rs76593842
|
0.00578
|
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)
|
rs111033495
|
0.00574
|
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met)
|
rs188498736
|
0.00561
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_005709.4(USH1C):c.1266G>A (p.Thr422=)
|
rs35188020
|
0.00558
|
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=)
|
rs16937781
|
0.00558
|
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=)
|
rs61740119
|
0.00555
|
NM_022124.6(CDH23):c.894G>A (p.Leu298=)
|
rs111033474
|
0.00549
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00546
|
NM_015404.4(WHRN):c.2439G>A (p.Thr813=)
|
rs61743618
|
0.00545
|
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr)
|
rs116996553
|
0.00542
|
NM_206933.4(USH2A):c.78T>C (p.Ala26=)
|
rs59139861
|
0.00539
|
NM_001267727.2(ARSG):c.1092-5C>T
|
rs111385660
|
0.00536
|
NM_001384140.1(PCDH15):c.-5A>G
|
rs142016527
|
0.00532
|
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)
|
rs201733315
|
0.00523
|
NM_153676.4(USH1C):c.*42C>T
|
rs16934270
|
0.00520
|
NM_015404.4(WHRN):c.2046G>C (p.Arg682=)
|
rs35258467
|
0.00514
|
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg)
|
rs139447495
|
0.00513
|
NM_032119.4(ADGRV1):c.-67A>T
|
rs150816712
|
0.00511
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00505
|
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=)
|
rs78576418
|
0.00502
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00497
|
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)
|
rs76463072
|
0.00494
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00493
|
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)
|
rs56013867
|
0.00491
|
NM_206933.4(USH2A):c.4627+641G>A
|
rs146153666
|
0.00491
|
NM_153676.4(USH1C):c.101A>G (p.His34Arg)
|
rs75157409
|
0.00489
|
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_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr)
|
rs116480183
|
0.00486
|
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=)
|
rs112097891
|
0.00486
|
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)
|
rs148097083
|
0.00484
|
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)
|
rs114745089
|
0.00472
|
NM_001384140.1(PCDH15):c.3983+12T>C
|
rs149867749
|
0.00471
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00466
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00466
|
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)
|
rs147062294
|
0.00462
|
NC_000011.10:g.77215242C>T
|
rs115812166
|
0.00459
|
NM_174878.3(CLRN1):c.*1027T>G
|
rs147434424
|
0.00459
|
NM_015404.4(WHRN):c.1166+18G>A
|
rs149202009
|
0.00456
|
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)
|
rs35703638
|
0.00456
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00440
|
NM_206933.4(USH2A):c.5517G>A (p.Val1839=)
|
rs111033421
|
0.00438
|
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val)
|
rs34732372
|
0.00428
|
NM_015404.4(WHRN):c.2586C>A (p.His862Gln)
|
rs117592152
|
0.00424
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851
|
0.00420
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00420
|
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=)
|
rs111033505
|
0.00418
|
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)
|
rs149459739
|
0.00414
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)
|
rs111033476
|
0.00408
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr)
|
rs115015305
|
0.00407
|
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg)
|
rs115039883
|
0.00406
|
NM_002109.6(HARS1):c.181-15G>C
|
rs184748736
|
0.00405
|
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro)
|
rs181475191
|
0.00405
|
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00405
|
NM_001384140.1(PCDH15):c.1590+15A>G
|
rs565203752
|
0.00398
|
NM_174878.3(CLRN1):c.*1191T>C
|
rs113817098
|
0.00396
|
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)
|
rs59174500
|
0.00394
|
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455
|
0.00391
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00391
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00386
|
NM_001347.4(DGKQ):c.200C>T (p.Thr67Met)
|
rs369795656
|
0.00385
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375
|
0.00385
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00384
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860
|
0.00381
|
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)
|
rs376497158
|
0.00379
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
NM_173477.5(USH1G):c.*1098T>A
|
rs116670727
|
0.00377
|
NM_206933.4(USH2A):c.8937A>G (p.Val2979=)
|
rs139100097
|
0.00376
|
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val)
|
rs34790864
|
0.00375
|
NM_000260.4(MYO7A):c.5481-14G>A
|
rs113075052
|
0.00372
|
NM_206933.4(USH2A):c.486-13G>A
|
rs116367260
|
0.00370
|
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=)
|
rs56829872
|
0.00370
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00369
|
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn)
|
rs149202379
|
0.00369
|
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn)
|
rs111033494
|
0.00368
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00366
|
NM_032119.4(ADGRV1):c.*259A>G
|
rs147905321
|
0.00365
|
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
|
rs79572315
|
0.00359
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743
|
0.00356
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln)
|
rs73181648
|
0.00353
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381
|
0.00347
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00344
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070
|
0.00336
|
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709
|
0.00336
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00325
|
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg)
|
rs41311625
|
0.00324
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00315
|
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
|
rs149222801
|
0.00311
|
NM_022124.6(CDH23):c.4875G>A (p.Val1625=)
|
rs149664909
|
0.00306
|
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln)
|
rs149390094
|
0.00306
|
NM_206933.4(USH2A):c.15297+3A>G
|
rs57754754
|
0.00304
|
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser)
|
rs61748627
|
0.00303
|
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=)
|
rs116446814
|
0.00299
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942
|
0.00293
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
NM_022124.6(CDH23):c.3999G>A (p.Val1333=)
|
rs111033453
|
0.00291
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00291
|
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)
|
rs111033458
|
0.00290
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)
|
rs41281318
|
0.00285
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00278
|
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=)
|
rs200207753
|
0.00277
|
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)
|
rs35429535
|
0.00276
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00274
|
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)
|
rs147288996
|
0.00272
|
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)
|
rs111033483
|
0.00272
|
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)
|
rs148594393
|
0.00272
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=)
|
rs192266658
|
0.00265
|
NM_001384140.1(PCDH15):c.4368-1535T>C
|
rs142158601
|
0.00260
|
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr)
|
rs147039836
|
0.00260
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310
|
0.00258
|
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr)
|
rs147883884
|
0.00256
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00248
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
NM_173477.5(USH1G):c.*776G>A
|
rs55847044
|
0.00248
|
NM_032119.4(ADGRV1):c.17856+11G>A
|
rs187039736
|
0.00247
|
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)
|
rs148556640
|
0.00247
|
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)
|
rs150264392
|
0.00246
|
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947
|
0.00245
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387
|
0.00242
|
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=)
|
rs368377560
|
0.00236
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)
|
rs143136329
|
0.00226
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00224
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236
|
0.00222
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00222
|
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)
|
rs199873924
|
0.00221
|
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=)
|
rs58461416
|
0.00220
|
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His)
|
rs143624066
|
0.00217
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)
|
rs111033498
|
0.00214
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=)
|
rs368122233
|
0.00206
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
NM_015404.4(WHRN):c.-499G>A
|
rs886063375
|
0.00199
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)
|
rs143004930
|
0.00194
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00193
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00189
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00188
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794
|
0.00186
|
NM_015404.4(WHRN):c.-314C>T
|
rs57258861
|
0.00185
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00184
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
NM_015404.4(WHRN):c.*156G>A
|
rs567661962
|
0.00182
|
NM_022124.6(CDH23):c.*68G>C
|
rs527311705
|
0.00182
|
NM_173477.5(USH1G):c.501C>G (p.Arg167=)
|
rs141688757
|
0.00182
|
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)
|
rs200313391
|
0.00181
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00180
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00176
|
NM_000260.4(MYO7A):c.*38G>A
|
rs149296177
|
0.00172
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00170
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_022124.6(CDH23):c.*478G>C
|
rs564392413
|
0.00166
|
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)
|
rs80069610
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_015404.4(WHRN):c.1305C>T (p.Asn435=)
|
rs150407952
|
0.00164
|
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys)
|
rs147900972
|
0.00164
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00163
|
NM_206933.4(USH2A):c.4627+281T>C
|
rs570544314
|
0.00163
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00162
|
NM_206933.4(USH2A):c.4627+562C>T
|
rs769348449
|
0.00162
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00160
|
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln)
|
rs201887949
|
0.00160
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00160
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351
|
0.00159
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00157
|
NM_206933.4(USH2A):c.4627+1133G>A
|
rs138139294
|
0.00153
|
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala)
|
rs148135241
|
0.00152
|
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met)
|
rs79705488
|
0.00151
|
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val)
|
rs111033492
|
0.00150
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=)
|
rs61741955
|
0.00145
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00145
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)
|
rs61999270
|
0.00142
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00137
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_206933.4(USH2A):c.4627+981T>A
|
rs41277220
|
0.00135
|
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)
|
rs144261647
|
0.00134
|
NM_000260.4(MYO7A):c.-211A>G
|
rs41298129
|
0.00133
|
NM_001195794.1(CLRN1):c.-91C>T
|
rs73155722
|
0.00133
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_206933.4(USH2A):c.2167+17A>G
|
rs181777364
|
0.00129
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00125
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00125
|
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu)
|
rs200897149
|
0.00125
|
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)
|
rs201644674
|
0.00125
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
NM_022124.6(CDH23):c.5067+15G>A
|
rs367928867
|
0.00124
|
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)
|
rs61900036
|
0.00122
|
NM_015404.4(WHRN):c.668G>A (p.Arg223His)
|
rs146273185
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00121
|
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu)
|
rs377581131
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp)
|
rs117352600
|
0.00120
|
NM_022124.6(CDH23):c.2954-15C>T
|
rs376377077
|
0.00120
|
NM_206933.4(USH2A):c.6486-18G>A
|
rs370809079
|
0.00118
|
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)
|
rs146819206
|
0.00117
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00117
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00115
|
NM_174878.3(CLRN1):c.*93T>C
|
rs567265508
|
0.00115
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00115
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00114
|
NM_173477.5(USH1G):c.*49C>T
|
rs199648830
|
0.00113
|
NM_206933.4(USH2A):c.2094C>T (p.Thr698=)
|
rs141489104
|
0.00112
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00111
|
NM_022124.6(CDH23):c.1140+14T>C
|
rs376753769
|
0.00108
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_022124.6(CDH23):c.198G>A (p.Val66=)
|
rs111033288
|
0.00103
|
NM_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn)
|
rs199796758
|
0.00103
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00102
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=)
|
rs372846962
|
0.00100
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00100
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
|
rs397517340
|
0.00098
|
NM_153676.4(USH1C):c.-71T>G
|
rs571065113
|
0.00098
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00098
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00098
|
NM_022124.6(CDH23):c.-15C>A
|
rs760922529
|
0.00096
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00096
|
NM_022124.6(CDH23):c.510C>T (p.Ser170=)
|
rs143341423
|
0.00096
|
NM_022124.6(CDH23):c.8980-12C>T
|
rs111583276
|
0.00095
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00092
|
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)
|
rs200412477
|
0.00091
|
NM_002109.6(HARS1):c.730-17G>A
|
rs189624055
|
0.00090
|
NM_015404.4(WHRN):c.-583C>T
|
rs755158483
|
0.00090
|
NM_153676.4(USH1C):c.*241C>G
|
rs551263680
|
0.00090
|
NM_206933.4(USH2A):c.3158-7A>G
|
rs201558076
|
0.00090
|
NM_022124.6(CDH23):c.387G>A (p.Ala129=)
|
rs201919232
|
0.00089
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)
|
rs199989979
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=)
|
rs41298745
|
0.00087
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00087
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00086
|
NM_002109.6(HARS1):c.234C>T (p.Asp78=)
|
rs142994969
|
0.00086
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00085
|
NM_015404.4(WHRN):c.1992G>A (p.Pro664=)
|
rs142568702
|
0.00084
|
NM_174878.3(CLRN1):c.*275A>G
|
rs570356810
|
0.00084
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile)
|
rs149544995
|
0.00082
|
NM_032119.4(ADGRV1):c.18803-13A>G
|
rs41305902
|
0.00082
|
NM_001384140.1(PCDH15):c.-288T>C
|
rs566733932
|
0.00081
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_173477.5(USH1G):c.*1821C>G
|
rs74943260
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00080
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00080
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_206933.4(USH2A):c.3157+12C>T
|
rs199853422
|
0.00080
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00080
|
NM_015404.4(WHRN):c.-305C>T
|
rs537786676
|
0.00079
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
rs143728180
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=)
|
rs150286388
|
0.00078
|
NM_153676.4(USH1C):c.114C>T (p.Asp38=)
|
rs137962152
|
0.00077
|
NM_206933.4(USH2A):c.784+14389G>T
|
rs146773511
|
0.00077
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00076
|
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser)
|
rs200111522
|
0.00075
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00074
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)
|
rs151119732
|
0.00073
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00073
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs)
|
rs753591187
|
0.00072
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00072
|
NM_022124.6(CDH23):c.9077+7C>T
|
rs76114420
|
0.00071
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs)
|
rs766167046
|
0.00069
|
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)
|
rs148632119
|
0.00069
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
NM_000260.4(MYO7A):c.2283-20C>T
|
rs371838579
|
0.00068
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=)
|
rs147037435
|
0.00067
|
NM_206933.4(USH2A):c.5409C>G (p.Val1803=)
|
rs140326085
|
0.00067
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743
|
0.00066
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00066
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00065
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00065
|
NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu)
|
rs200854813
|
0.00065
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00065
|
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)
|
rs145448362
|
0.00065
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)
|
rs200372118
|
0.00064
|
NM_206933.4(USH2A):c.4627+801C>G
|
rs41277222
|
0.00064
|
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=)
|
rs143546878
|
0.00064
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00063
|
NM_206933.4(USH2A):c.10062G>C (p.Val3354=)
|
rs200172376
|
0.00063
|
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)
|
rs111033333
|
0.00063
|
NM_015404.4(WHRN):c.2322C>T (p.Ser774=)
|
rs55966714
|
0.00062
|
NM_153676.4(USH1C):c.2134-11T>C
|
rs200386499
|
0.00062
|
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229
|
0.00061
|
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly)
|
rs146745502
|
0.00061
|
NM_022124.6(CDH23):c.3369+12G>A
|
rs187975106
|
0.00061
|
NM_022124.6(CDH23):c.9198+13C>T
|
rs375384238
|
0.00061
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)
|
rs376401006
|
0.00060
|
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)
|
rs199833843
|
0.00060
|
NM_153676.4(USH1C):c.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543
|
0.00060
|
NM_206933.4(USH2A):c.15298-1176A>G
|
rs144467375
|
0.00059
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00058
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00058
|
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=)
|
rs202166096
|
0.00058
|
NM_032119.4(ADGRV1):c.13654-5C>T
|
rs367554300
|
0.00058
|
NM_153676.4(USH1C):c.1086-13G>T
|
rs200490320
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_206933.4(USH2A):c.485+12T>C
|
rs201857884
|
0.00058
|
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)
|
rs115398922
|
0.00057
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00057
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00057
|
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=)
|
rs149570469
|
0.00057
|
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)
|
rs147500559
|
0.00056
|
NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=)
|
rs373730163
|
0.00056
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00056
|
NM_000260.4(MYO7A):c.-154G>A
|
rs545774605
|
0.00054
|
NM_000260.4(MYO7A):c.4668G>A (p.Pro1556=)
|
rs376892582
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_002109.6(HARS1):c.72G>A (p.Gln24=)
|
rs148516171
|
0.00054
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00054
|
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)
|
rs111033519
|
0.00054
|
NM_022124.6(CDH23):c.5821-13C>T
|
rs117317626
|
0.00054
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00054
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00054
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00054
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00054
|
NM_206933.4(USH2A):c.4627+411A>G
|
rs772732997
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_015404.4(WHRN):c.2510G>A (p.Arg837His)
|
rs55749855
|
0.00053
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
NM_022124.6(CDH23):c.2587+35C>T
|
rs186492861
|
0.00053
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)
|
rs200576500
|
0.00053
|
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn)
|
rs147283064
|
0.00052
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00052
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)
|
rs151199924
|
0.00051
|
NM_206933.4(USH2A):c.10741-8G>A
|
rs369968349
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_206933.4(USH2A):c.785-16_785-15del
|
rs150209313
|
0.00051
|
NM_000260.4(MYO7A):c.486C>T (p.Ala162=)
|
rs367687624
|
0.00050
|
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)
|
rs148530934
|
0.00050
|
NM_022124.6(CDH23):c.9335T>C (p.Ile3112Thr)
|
rs201359237
|
0.00050
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00050
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00050
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656
|
0.00049
|
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)
|
rs117579809
|
0.00049
|
NM_022124.6(CDH23):c.67+8C>T
|
rs186548927
|
0.00049
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00049
|
NM_206933.4(USH2A):c.8805C>T (p.Val2935=)
|
rs111033534
|
0.00049
|
NM_206933.4(USH2A):c.9258+15T>C
|
rs181894778
|
0.00049
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022
|
0.00048
|
NM_001384140.1(PCDH15):c.-180C>T
|
rs375866561
|
0.00048
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383
|
0.00048
|
NM_022124.6(CDH23):c.2745C>T (p.Ile915=)
|
rs183220886
|
0.00048
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
0.00048
|
NM_173477.5(USH1G):c.*567C>G
|
rs528602466
|
0.00048
|
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His)
|
rs142678284
|
0.00047
|
NM_022124.6(CDH23):c.9606C>A (p.Gly3202=)
|
rs193244823
|
0.00047
|
NM_032119.4(ADGRV1):c.2241-10A>T
|
rs150996234
|
0.00047
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)
|
rs373495082
|
0.00046
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00046
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_153676.4(USH1C):c.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln)
|
rs199514829
|
0.00045
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=)
|
rs75019370
|
0.00045
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00044
|
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
|
rs145499180
|
0.00044
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)
|
rs372509310
|
0.00043
|
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=)
|
rs149481989
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301
|
0.00042
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00042
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00042
|
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)
|
rs201195495
|
0.00041
|
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=)
|
rs140664109
|
0.00041
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00041
|
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=)
|
rs370184182
|
0.00041
|
NM_174878.3(CLRN1):c.*115G>A
|
rs182501934
|
0.00041
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
NM_001384140.1(PCDH15):c.4368-1519A>G
|
rs532994771
|
0.00040
|
NM_022124.6(CDH23):c.*76G>A
|
rs545047958
|
0.00040
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00040
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
NM_022124.6(CDH23):c.2163C>T (p.Ile721=)
|
rs192326086
|
0.00039
|
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)
|
rs202101019
|
0.00039
|
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)
|
rs201076440
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
|
rs112273610
|
0.00039
|
NM_015404.4(WHRN):c.1161G>A (p.Ser387=)
|
rs201105262
|
0.00038
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00038
|
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=)
|
rs202030777
|
0.00038
|
NM_206933.4(USH2A):c.4627+48A>T
|
rs74874838
|
0.00038
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00038
|
NM_000260.4(MYO7A):c.735+3G>A
|
rs371398512
|
0.00037
|
NM_022124.6(CDH23):c.1089C>T (p.Val363=)
|
rs556135873
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00037
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00037
|
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)
|
rs781991817
|
0.00036
|
NM_000260.4(MYO7A):c.3291G>A (p.Gln1097=)
|
rs561459113
|
0.00036
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
NM_002109.6(HARS1):c.396+20C>T
|
rs191205977
|
0.00036
|
NM_015404.4(WHRN):c.-483G>A
|
rs886063374
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=)
|
rs145742052
|
0.00036
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu)
|
rs571203897
|
0.00035
|
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146
|
0.00035
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)
|
rs367750869
|
0.00035
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_206933.4(USH2A):c.4627+561T>C
|
rs566131886
|
0.00035
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044
|
0.00034
|
NM_000260.4(MYO7A):c.5169-5G>A
|
rs727505232
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_001384140.1(PCDH15):c.4368-1262G>A
|
rs187860910
|
0.00034
|
NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser)
|
rs139547641
|
0.00034
|
NM_002109.6(HARS1):c.903C>T (p.Asp301=)
|
rs146835587
|
0.00034
|
NM_015404.4(WHRN):c.1887G>A (p.Pro629=)
|
rs143443833
|
0.00034
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00034
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
NM_032119.4(ADGRV1):c.8824+10G>A
|
rs180693049
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00034
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00033
|
NM_002109.6(HARS1):c.477T>C (p.Asp159=)
|
rs750113259
|
0.00033
|
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=)
|
rs370568585
|
0.00033
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00033
|
NM_174878.3(CLRN1):c.*1039A>T
|
rs200446881
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00032
|
NM_206933.4(USH2A):c.4627+851A>G
|
rs779885066
|
0.00032
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00032
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
NM_001384140.1(PCDH15):c.1762A>G (p.Asn588Asp)
|
rs143897176
|
0.00031
|
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)
|
rs138582560
|
0.00031
|
NM_022124.6(CDH23):c.*141G>A
|
rs535544696
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr)
|
rs375918283
|
0.00031
|
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=)
|
rs373457993
|
0.00031
|
NM_032119.4(ADGRV1):c.*101T>C
|
rs41315918
|
0.00031
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309
|
0.00031
|
NM_153676.4(USH1C):c.2487C>T (p.Gly829=)
|
rs142801489
|
0.00031
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
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_000260.4(MYO7A):c.2282+5G>A
|
rs540145750
|
0.00030
|
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)
|
rs116892396
|
0.00030
|
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)
|
rs200328570
|
0.00030
|
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=)
|
rs117641264
|
0.00030
|
NM_032119.4(ADGRV1):c.208-4A>G
|
rs374070113
|
0.00030
|
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)
|
rs61745496
|
0.00030
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00030
|
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=)
|
rs41305094
|
0.00030
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000260.4(MYO7A):c.3925-8G>A
|
rs367645097
|
0.00029
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)
|
rs192668758
|
0.00029
|
NM_001384140.1(PCDH15):c.4203-8C>G
|
rs200840022
|
0.00029
|
NM_001384140.1(PCDH15):c.4368-1142G>A
|
rs549184328
|
0.00029
|
NM_022124.6(CDH23):c.*104G>C
|
rs377312107
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_022124.6(CDH23):c.5735G>A (p.Arg1912Gln)
|
rs142663207
|
0.00029
|
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)
|
rs374156784
|
0.00029
|
NM_032119.4(ADGRV1):c.-44C>T
|
rs192362302
|
0.00029
|
NM_173477.5(USH1G):c.*482C>T
|
rs75035213
|
0.00029
|
NM_174878.3(CLRN1):c.*835G>T
|
rs558161150
|
0.00029
|
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)
|
rs187218889
|
0.00029
|
NM_206933.4(USH2A):c.2167+11C>T
|
rs139647897
|
0.00029
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)
|
rs147023536
|
0.00029
|
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=)
|
rs373656667
|
0.00028
|
NM_000260.4(MYO7A):c.514C>T (p.Leu172=)
|
rs368246776
|
0.00028
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00028
|
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351
|
0.00028
|
NM_022124.6(CDH23):c.4095C>T (p.Asp1365=)
|
rs368582818
|
0.00028
|
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)
|
rs11000008
|
0.00028
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00027
|
NM_000260.4(MYO7A):c.758A>G (p.His253Arg)
|
rs375200566
|
0.00027
|
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)
|
rs138338096
|
0.00027
|
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)
|
rs199510686
|
0.00027
|
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)
|
rs201610096
|
0.00027
|
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser)
|
rs201876362
|
0.00027
|
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His)
|
rs201942629
|
0.00027
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00027
|
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)
|
rs200212083
|
0.00027
|
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu)
|
rs199792315
|
0.00027
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00027
|
NM_032119.4(ADGRV1):c.3022+8T>C
|
rs375286987
|
0.00027
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00027
|
NM_206933.4(USH2A):c.7416G>A (p.Gln2472=)
|
rs145783712
|
0.00027
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00027
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00026
|
NM_001384140.1(PCDH15):c.3502-6G>A
|
rs749897896
|
0.00026
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
NM_015404.4(WHRN):c.2237-10C>G
|
rs200131193
|
0.00026
|
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)
|
rs140255091
|
0.00026
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
0.00026
|
NM_022124.6(CDH23):c.772A>G (p.Ile258Val)
|
rs370782827
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)
|
rs137963595
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=)
|
rs200243588
|
0.00026
|
NM_002109.6(HARS1):c.852C>T (p.Leu284=)
|
rs202034204
|
0.00025
|
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)
|
rs199508694
|
0.00025
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His)
|
rs201067092
|
0.00025
|
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)
|
rs201154290
|
0.00025
|
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=)
|
rs367768061
|
0.00025
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
0.00025
|
NM_173477.5(USH1G):c.*279G>T
|
rs886053387
|
0.00025
|
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly)
|
rs146569216
|
0.00025
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
|
rs138640647
|
0.00025
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile)
|
rs374655803
|
0.00024
|
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg)
|
rs140716525
|
0.00024
|
NM_001384140.1(PCDH15):c.4368-1564A>T
|
rs188426462
|
0.00024
|
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu)
|
rs145232643
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)
|
rs139337135
|
0.00024
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00024
|
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala)
|
rs150069992
|
0.00024
|
NM_153676.4(USH1C):c.275G>A (p.Arg92His)
|
rs147954324
|
0.00024
|
NM_174878.3(CLRN1):c.*425G>A
|
rs778645950
|
0.00024
|
NM_206933.4(USH2A):c.13563T>C (p.Pro4521=)
|
rs139701970
|
0.00024
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00023
|
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)
|
rs199738915
|
0.00023
|
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu)
|
rs144878400
|
0.00023
|
NM_022124.6(CDH23):c.-55G>A
|
rs939943382
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00023
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139
|
0.00023
|
NM_022124.6(CDH23):c.2712G>A (p.Pro904=)
|
rs570110527
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)
|
rs200584854
|
0.00023
|
NM_173477.5(USH1G):c.-8C>T
|
rs769903865
|
0.00023
|
NM_174878.3(CLRN1):c.660C>T (p.Asp220=)
|
rs148752352
|
0.00023
|
NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile)
|
rs146156360
|
0.00023
|
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=)
|
rs397518016
|
0.00023
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00023
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00023
|
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=)
|
rs185748200
|
0.00022
|
NM_002109.6(HARS1):c.653A>G (p.Asp218Gly)
|
rs374172904
|
0.00022
|
NM_015404.4(WHRN):c.-595G>A
|
rs1030140507
|
0.00022
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00022
|
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)
|
rs369697366
|
0.00022
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385
|
0.00022
|
NM_032119.4(ADGRV1):c.2734+18T>G
|
rs372642748
|
0.00022
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00022
|
NM_173477.5(USH1G):c.*809C>A
|
rs886053386
|
0.00022
|
NM_173477.5(USH1G):c.1170C>T (p.Ser390=)
|
rs199724052
|
0.00022
|
NM_174878.3(CLRN1):c.*1038G>A
|
rs201534956
|
0.00022
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)
|
rs138879998
|
0.00022
|
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)
|
rs546494522
|
0.00022
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00021
|
NM_000260.4(MYO7A):c.1960C>T (p.Arg654Cys)
|
rs201928014
|
0.00021
|
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=)
|
rs373599360
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_001195794.1(CLRN1):c.-229A>G
|
rs575451901
|
0.00021
|
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)
|
rs148162562
|
0.00021
|
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)
|
rs111033499
|
0.00021
|
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
|
rs143763650
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn)
|
rs373836924
|
0.00021
|
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp)
|
rs201763918
|
0.00021
|
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His)
|
rs747488431
|
0.00021
|
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly)
|
rs376414352
|
0.00021
|
NM_022124.6(CDH23):c.8901T>G (p.Arg2967=)
|
rs375720093
|
0.00021
|
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)
|
rs201475256
|
0.00021
|
NM_032119.4(ADGRV1):c.6951+13G>A
|
rs143356203
|
0.00021
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
NM_206933.4(USH2A):c.1550+10T>C
|
rs200728788
|
0.00021
|
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)
|
rs375083165
|
0.00021
|
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val)
|
rs201710470
|
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_206933.4(USH2A):c.7717C>T (p.Arg2573Cys)
|
rs140983855
|
0.00021
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00021
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00020
|
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=)
|
rs367738288
|
0.00020
|
NM_032119.4(ADGRV1):c.10550-7C>T
|
rs191228562
|
0.00020
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala)
|
rs368163419
|
0.00020
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555
|
0.00020
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00020
|
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_000260.4(MYO7A):c.1461C>T (p.Ile487=)
|
rs782195221
|
0.00019
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_000260.4(MYO7A):c.19-9C>T
|
rs368452072
|
0.00019
|
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=)
|
rs372623270
|
0.00019
|
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser)
|
rs376348438
|
0.00019
|
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro)
|
rs140516168
|
0.00019
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala)
|
rs199834829
|
0.00019
|
NM_015404.4(WHRN):c.*187A>G
|
rs779279060
|
0.00019
|
NM_015404.4(WHRN):c.*188A>T
|
rs549537695
|
0.00019
|
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)
|
rs201555289
|
0.00019
|
NM_022124.6(CDH23):c.-353C>G
|
rs886047121
|
0.00019
|
NM_022124.6(CDH23):c.4542G>A (p.Gln1514=)
|
rs559831834
|
0.00019
|
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=)
|
rs376952695
|
0.00019
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu)
|
rs759908554
|
0.00019
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00019
|
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)
|
rs200907244
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile)
|
rs143208990
|
0.00019
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00019
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00018
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00018
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00018
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
NM_022124.6(CDH23):c.68-3C>T
|
rs142456469
|
0.00018
|
NM_022124.6(CDH23):c.9633+14G>A
|
rs376672264
|
0.00018
|
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys)
|
rs200124827
|
0.00018
|
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys)
|
rs149384350
|
0.00018
|
NM_153676.4(USH1C):c.186T>C (p.Ile62=)
|
rs200239508
|
0.00018
|
NM_153676.4(USH1C):c.324T>C (p.Phe108=)
|
rs549758189
|
0.00018
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)
|
rs531822235
|
0.00018
|
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=)
|
rs369787754
|
0.00017
|
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys)
|
rs370232066
|
0.00017
|
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)
|
rs727505004
|
0.00017
|
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser)
|
rs189284385
|
0.00017
|
NM_022124.6(CDH23):c.*56G>A
|
rs756856139
|
0.00017
|
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly)
|
rs372401651
|
0.00017
|
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser)
|
rs562052236
|
0.00017
|
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met)
|
rs371125497
|
0.00017
|
NM_022124.6(CDH23):c.9510+14G>A
|
rs188563959
|
0.00017
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)
|
rs146082509
|
0.00017
|
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
|
rs200541858
|
0.00017
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)
|
rs147993163
|
0.00017
|
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)
|
rs138123405
|
0.00017
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00017
|
NM_206933.4(USH2A):c.4627+161T>C
|
rs771693146
|
0.00017
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
0.00017
|
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)
|
rs188093326
|
0.00017
|
NM_000260.4(MYO7A):c.1635T>C (p.His545=)
|
rs376286438
|
0.00016
|
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
|
rs375968860
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=)
|
rs371789765
|
0.00016
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00016
|
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=)
|
rs146374856
|
0.00016
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
NM_015404.4(WHRN):c.-581C>T
|
rs886063377
|
0.00016
|
NM_022124.6(CDH23):c.1581G>T (p.Gln527His)
|
rs552906420
|
0.00016
|
NM_022124.6(CDH23):c.2176+12C>T
|
rs371967419
|
0.00016
|
NM_022124.6(CDH23):c.3580-13C>T
|
rs150894638
|
0.00016
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00016
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938
|
0.00016
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
rs1996552
|
0.00016
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg)
|
rs727504812
|
0.00016
|
NM_153676.4(USH1C):c.*117C>G
|
rs534567723
|
0.00016
|
NM_153676.4(USH1C):c.*427T>C
|
rs1216254308
|
0.00016
|
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)
|
rs143803480
|
0.00016
|
NM_173477.5(USH1G):c.*1018G>A
|
rs780234900
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)
|
rs201008540
|
0.00016
|
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
NM_206933.4(USH2A):c.4627+596A>G
|
rs1036513961
|
0.00016
|
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=)
|
rs200247886
|
0.00016
|
NM_206933.4(USH2A):c.6958-5C>T
|
rs147914083
|
0.00016
|
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr)
|
rs577389392
|
0.00016
|
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)
|
rs149813671
|
0.00016
|
NM_206933.4(USH2A):c.9259-14A>C
|
rs561590242
|
0.00016
|
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr)
|
rs376688581
|
0.00015
|
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met)
|
rs369768947
|
0.00015
|
NM_001384140.1(PCDH15):c.1494A>G (p.Gln498=)
|
rs145141405
|
0.00015
|
NM_001384140.1(PCDH15):c.8G>A (p.Arg3Gln)
|
rs372085398
|
0.00015
|
NM_015404.4(WHRN):c.-570C>G
|
rs886073834
|
0.00015
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00015
|
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln)
|
rs186990940
|
0.00015
|
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=)
|
rs370762205
|
0.00015
|
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe)
|
rs200685818
|
0.00015
|
NM_032119.4(ADGRV1):c.15497C>T (p.Thr5166Met)
|
rs375860783
|
0.00015
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929
|
0.00015
|
NM_153676.4(USH1C):c.684C>T (p.Ser228=)
|
rs149172005
|
0.00015
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00015
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00015
|
NM_206933.4(USH2A):c.5299-10T>C
|
rs375279569
|
0.00015
|
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln)
|
rs541275063
|
0.00015
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala)
|
rs113786363
|
0.00015
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00014
|
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln)
|
rs199918940
|
0.00014
|
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=)
|
rs754599732
|
0.00014
|
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)
|
rs368862510
|
0.00014
|
NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala)
|
rs61731381
|
0.00014
|
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)
|
rs891844407
|
0.00014
|
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)
|
rs199615869
|
0.00014
|
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)
|
rs768076848
|
0.00014
|
NM_015404.4(WHRN):c.*583C>T
|
rs567156879
|
0.00014
|
NM_022124.6(CDH23):c.256G>A (p.Val86Met)
|
rs200085829
|
0.00014
|
NM_022124.6(CDH23):c.3452G>A (p.Arg1151Gln)
|
rs370944611
|
0.00014
|
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu)
|
rs377222292
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)
|
rs375641853
|
0.00014
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
NM_022124.6(CDH23):c.7362+14G>A
|
rs78158757
|
0.00014
|
NM_022124.6(CDH23):c.8309-3C>T
|
rs371910002
|
0.00014
|
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=)
|
rs201453118
|
0.00014
|
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=)
|
rs368171530
|
0.00014
|
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile)
|
rs201677553
|
0.00014
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
rs201007778
|
0.00014
|
NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=)
|
rs189232336
|
0.00014
|
NM_032119.4(ADGRV1):c.8266G>A (p.Gly2756Arg)
|
rs546198768
|
0.00014
|
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=)
|
rs150303579
|
0.00014
|
NM_153676.4(USH1C):c.*110C>G
|
rs75815445
|
0.00014
|
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=)
|
rs377439949
|
0.00014
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
NM_153676.4(USH1C):c.2617G>A (p.Val873Met)
|
rs201533059
|
0.00014
|
NM_153676.4(USH1C):c.790G>A (p.Val264Ile)
|
rs79875849
|
0.00014
|
NM_173477.5(USH1G):c.-2C>T
|
rs758940726
|
0.00014
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
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.1590A>T (p.Thr530=)
|
rs144343161
|
0.00014
|
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
|
rs373190681
|
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_000260.4(MYO7A):c.*416C>T
|
rs549702559
|
0.00013
|
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=)
|
rs181126043
|
0.00013
|
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)
|
rs372050452
|
0.00013
|
NM_000260.4(MYO7A):c.4442-7G>A
|
rs372023062
|
0.00013
|
NM_001384140.1(PCDH15):c.1649T>G (p.Val550Gly)
|
rs61735482
|
0.00013
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178
|
0.00013
|
NM_022124.6(CDH23):c.*80G>A
|
rs75715348
|
0.00013
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00013
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
NM_022124.6(CDH23):c.3220+5G>A
|
rs977262704
|
0.00013
|
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)
|
rs372158876
|
0.00013
|
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=)
|
rs377269771
|
0.00013
|
NM_022124.6(CDH23):c.5187G>A (p.Thr1729=)
|
rs376386945
|
0.00013
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00013
|
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)
|
rs368828743
|
0.00013
|
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met)
|
rs370794439
|
0.00013
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00013
|
NM_022124.6(CDH23):c.7994T>C (p.Ile2665Thr)
|
rs375019257
|
0.00013
|
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
|
rs200644004
|
0.00013
|
NM_032119.4(ADGRV1):c.1510-7A>T
|
rs182260529
|
0.00013
|
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val)
|
rs185971062
|
0.00013
|
NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=)
|
rs200712751
|
0.00013
|
NM_032119.4(ADGRV1):c.8064C>T (p.Ser2688=)
|
rs75195840
|
0.00013
|
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu)
|
rs56332160
|
0.00013
|
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp)
|
rs555152976
|
0.00013
|
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln)
|
rs140424216
|
0.00013
|
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)
|
rs200197601
|
0.00013
|
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs)
|
rs762606406
|
0.00013
|
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr)
|
rs146980351
|
0.00013
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00013
|
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=)
|
rs200287425
|
0.00013
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
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.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00013
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00013
|
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
|
rs200289497
|
0.00013
|
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)
|
rs756423843
|
0.00013
|
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
|
rs376314751
|
0.00013
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00013
|
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr)
|
rs144112891
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
0.00013
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00013
|
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met)
|
rs370988961
|
0.00013
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00013
|
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)
|
rs200304238
|
0.00012
|
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=)
|
rs782711428
|
0.00012
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00012
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_002109.6(HARS1):c.103G>A (p.Val35Met)
|
rs144588417
|
0.00012
|
NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)
|
rs138377835
|
0.00012
|
NM_015404.4(WHRN):c.-505C>T
|
rs987306942
|
0.00012
|
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)
|
rs368841307
|
0.00012
|
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met)
|
rs372981760
|
0.00012
|
NM_022124.6(CDH23):c.6081T>G (p.Ile2027Met)
|
rs114919561
|
0.00012
|
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val)
|
rs573057228
|
0.00012
|
NM_022124.6(CDH23):c.6678C>T (p.Asn2226=)
|
rs372120764
|
0.00012
|
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro)
|
rs200805176
|
0.00012
|
NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=)
|
rs375468899
|
0.00012
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00012
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00012
|
NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala)
|
rs368806892
|
0.00012
|
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile)
|
rs140094683
|
0.00012
|
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=)
|
rs148499621
|
0.00012
|
NM_206933.4(USH2A):c.1623G>A (p.Glu541=)
|
rs146805130
|
0.00012
|
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)
|
rs77797012
|
0.00012
|
NM_206933.4(USH2A):c.6387A>G (p.Thr2129=)
|
rs150282853
|
0.00012
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
NM_000260.4(MYO7A):c.*100C>T
|
rs758099500
|
0.00011
|
NM_000260.4(MYO7A):c.1091C>A (p.Pro364Gln)
|
rs782441745
|
0.00011
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
NM_000260.4(MYO7A):c.1797+7C>T
|
rs782820757
|
0.00011
|
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
|
rs782339376
|
0.00011
|
NM_000260.4(MYO7A):c.3375+14C>A
|
rs782500012
|
0.00011
|
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser)
|
rs777168937
|
0.00011
|
NM_000260.4(MYO7A):c.4568+13G>A
|
rs532356676
|
0.00011
|
NM_000260.4(MYO7A):c.639C>T (p.Phe213=)
|
rs540197003
|
0.00011
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
0.00011
|
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser)
|
rs368583838
|
0.00011
|
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454
|
0.00011
|
NM_001384140.1(PCDH15):c.4368-1028C>A
|
rs898510053
|
0.00011
|
NM_001384140.1(PCDH15):c.4671+1355A>G
|
rs372184022
|
0.00011
|
NM_022124.6(CDH23):c.*85G>A
|
rs886047144
|
0.00011
|
NM_022124.6(CDH23):c.1514+6A>G
|
rs367949981
|
0.00011
|
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu)
|
rs201584731
|
0.00011
|
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys)
|
rs562019725
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_022124.6(CDH23):c.6163C>T (p.Leu2055=)
|
rs536022792
|
0.00011
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)
|
rs199903227
|
0.00011
|
NM_022124.6(CDH23):c.7568C>T (p.Pro2523Leu)
|
rs369761606
|
0.00011
|
NM_022124.6(CDH23):c.838A>G (p.Thr280Ala)
|
rs777244853
|
0.00011
|
NM_022124.6(CDH23):c.8437C>T (p.Pro2813Ser)
|
rs537251448
|
0.00011
|
NM_022124.6(CDH23):c.8465A>G (p.Asp2822Gly)
|
rs373155603
|
0.00011
|
NM_022124.6(CDH23):c.9865A>G (p.Thr3289Ala)
|
rs375712395
|
0.00011
|
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=)
|
rs182626712
|
0.00011
|
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)
|
rs201480340
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val)
|
rs765672841
|
0.00011
|
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)
|
rs199798095
|
0.00011
|
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys)
|
rs375450242
|
0.00011
|
NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met)
|
rs376428763
|
0.00011
|
NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=)
|
rs144401211
|
0.00011
|
NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=)
|
rs376325671
|
0.00011
|
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)
|
rs760510612
|
0.00011
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=)
|
rs772650866
|
0.00011
|
NM_153676.4(USH1C):c.2280+6del
|
rs776356060
|
0.00011
|
NM_153676.4(USH1C):c.239G>A (p.Arg80Gln)
|
rs148597739
|
0.00011
|
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)
|
rs142652588
|
0.00011
|
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
|
rs558663132
|
0.00011
|
NM_173477.5(USH1G):c.*1119G>A
|
rs182142592
|
0.00011
|
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)
|
rs147842359
|
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.14680G>A (p.Ala4894Thr)
|
rs369778428
|
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.6524G>A (p.Arg2175His)
|
rs140845899
|
0.00011
|
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=)
|
rs369778429
|
0.00011
|
NM_000260.4(MYO7A):c.1201-12A>G
|
rs542772429
|
0.00010
|
NM_000260.4(MYO7A):c.1343+5C>T
|
rs113261636
|
0.00010
|
NM_000260.4(MYO7A):c.1343+6G>A
|
rs201886336
|
0.00010
|
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu)
|
rs200057810
|
0.00010
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00010
|
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys)
|
rs372366760
|
0.00010
|
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser)
|
rs370104824
|
0.00010
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00010
|
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=)
|
rs376301325
|
0.00010
|
NM_000260.4(MYO7A):c.617G>A (p.Arg206His)
|
rs781998354
|
0.00010
|
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=)
|
rs370866578
|
0.00010
|
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)
|
rs372344870
|
0.00010
|
NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=)
|
rs140893140
|
0.00010
|
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=)
|
rs144955298
|
0.00010
|
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)
|
rs145037203
|
0.00010
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414
|
0.00010
|
NM_002109.6(HARS1):c.615C>T (p.Gly205=)
|
rs371470801
|
0.00010
|
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val)
|
rs141168514
|
0.00010
|
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr)
|
rs202161016
|
0.00010
|
NM_015404.4(WHRN):c.2571G>T (p.Gln857His)
|
rs776712642
|
0.00010
|
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala)
|
rs781583583
|
0.00010
|
NM_022124.6(CDH23):c.137C>T (p.Thr46Met)
|
rs727504613
|
0.00010
|
NM_022124.6(CDH23):c.2207G>A (p.Arg736Gln)
|
rs377348311
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys)
|
rs200664666
|
0.00010
|
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met)
|
rs772949926
|
0.00010
|
NM_022124.6(CDH23):c.8230G>A (p.Gly2744Ser)
|
rs376189742
|
0.00010
|
NM_022124.6(CDH23):c.9771A>C (p.Gly3257=)
|
rs373249121
|
0.00010
|
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu)
|
rs190427962
|
0.00010
|
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)
|
rs200530343
|
0.00010
|
NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=)
|
rs369528456
|
0.00010
|
NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met)
|
rs199552258
|
0.00010
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
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.12392C>T (p.Thr4131Ile)
|
rs149647002
|
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.14892C>T (p.Tyr4964=)
|
rs149877542
|
0.00010
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00010
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe)
|
rs145148501
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=)
|
rs138064171
|
0.00010
|
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His)
|
rs368681648
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00010
|
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr)
|
rs760777446
|
0.00010
|
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=)
|
rs200525258
|
0.00010
|
NM_000260.4(MYO7A):c.*142A>G
|
rs369873505
|
0.00009
|
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)
|
rs375457812
|
0.00009
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605
|
0.00009
|
NM_000260.4(MYO7A):c.2316A>G (p.Thr772=)
|
rs369466539
|
0.00009
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00009
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00009
|
NM_000260.4(MYO7A):c.3954C>T (p.His1318=)
|
rs749218462
|
0.00009
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)
|
rs397516328
|
0.00009
|
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)
|
rs199924410
|
0.00009
|
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=)
|
rs200170358
|
0.00009
|
NM_001384140.1(PCDH15):c.1712T>C (p.Val571Ala)
|
rs780503140
|
0.00009
|
NM_001384140.1(PCDH15):c.1978G>C (p.Val660Leu)
|
rs373482210
|
0.00009
|
NM_001384140.1(PCDH15):c.1997C>T (p.Thr666Ile)
|
rs146121822
|
0.00009
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
NM_002109.6(HARS1):c.952-3C>A
|
rs373032755
|
0.00009
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile)
|
rs374805957
|
0.00009
|
NM_022124.6(CDH23):c.2394C>T (p.Thr798=)
|
rs373269394
|
0.00009
|
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys)
|
rs532018311
|
0.00009
|
NM_022124.6(CDH23):c.2939C>T (p.Thr980Met)
|
rs535416598
|
0.00009
|
NM_022124.6(CDH23):c.3029G>A (p.Arg1010His)
|
rs370107953
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022124.6(CDH23):c.386C>T (p.Ala129Val)
|
rs183046743
|
0.00009
|
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met)
|
rs762247872
|
0.00009
|
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)
|
rs56043301
|
0.00009
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00009
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00009
|
NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val)
|
rs368394419
|
0.00009
|
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His)
|
rs200251748
|
0.00009
|
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
|
rs556148352
|
0.00009
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00009
|
NM_022124.6(CDH23):c.8729T>C (p.Met2910Thr)
|
rs374171450
|
0.00009
|
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn)
|
rs371286324
|
0.00009
|
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)
|
rs369395479
|
0.00009
|
NM_022124.6(CDH23):c.9413G>A (p.Arg3138Gln)
|
rs372676235
|
0.00009
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)
|
rs373862154
|
0.00009
|
NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu)
|
rs749622020
|
0.00009
|
NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg)
|
rs199959482
|
0.00009
|
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)
|
rs141681122
|
0.00009
|
NM_033056.4(PCDH15):c.4919G>A (p.Arg1640Lys)
|
rs567843031
|
0.00009
|
NM_153676.4(USH1C):c.1199G>A (p.Arg400His)
|
rs750721690
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
NM_174878.3(CLRN1):c.*249G>A
|
rs528690106
|
0.00009
|
NM_174878.3(CLRN1):c.*856G>A
|
rs748935256
|
0.00009
|
NM_174878.3(CLRN1):c.*90A>G
|
rs780643561
|
0.00009
|
NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser)
|
rs368175674
|
0.00009
|
NM_206933.4(USH2A):c.10585+4T>G
|
rs372667667
|
0.00009
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
NM_206933.4(USH2A):c.11062C>T (p.Pro3688Ser)
|
rs147214756
|
0.00009
|
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr)
|
rs372327495
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys)
|
rs777874309
|
0.00009
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00009
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
0.00009
|
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu)
|
rs140955723
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr)
|
rs180994250
|
0.00009
|
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=)
|
rs767648070
|
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.5890C>T (p.Arg1964Cys)
|
rs148049006
|
0.00009
|
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr)
|
rs142234324
|
0.00009
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00009
|
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=)
|
rs143683292
|
0.00009
|
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu)
|
rs145399306
|
0.00009
|
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg)
|
rs139649540
|
0.00009
|
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)
|
rs200726531
|
0.00009
|
NM_000260.4(MYO7A):c.1895T>G (p.Phe632Cys)
|
rs782785036
|
0.00008
|
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys)
|
rs782276809
|
0.00008
|
NM_000260.4(MYO7A):c.3651C>T (p.His1217=)
|
rs776731918
|
0.00008
|
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=)
|
rs560284703
|
0.00008
|
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)
|
rs373080197
|
0.00008
|
NM_000260.4(MYO7A):c.4387C>T (p.Arg1463Cys)
|
rs202111392
|
0.00008
|
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=)
|
rs758921557
|
0.00008
|
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=)
|
rs372311564
|
0.00008
|
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=)
|
rs554789699
|
0.00008
|
NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile)
|
rs187727835
|
0.00008
|
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met)
|
rs143090687
|
0.00008
|
NM_001384140.1(PCDH15):c.2325G>A (p.Val775=)
|
rs200792575
|
0.00008
|
NM_001384140.1(PCDH15):c.2751+9T>C
|
rs180804907
|
0.00008
|
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val)
|
rs369029215
|
0.00008
|
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn)
|
rs773599066
|
0.00008
|
NM_001384140.1(PCDH15):c.2891G>A (p.Arg964Lys)
|
rs149605588
|
0.00008
|
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
NM_002109.6(HARS1):c.1110C>T (p.Phe370=)
|
rs761267344
|
0.00008
|
NM_022124.6(CDH23):c.1410C>T (p.Tyr470=)
|
rs549569431
|
0.00008
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
NM_022124.6(CDH23):c.4863C>T (p.Tyr1621=)
|
rs374797859
|
0.00008
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp)
|
rs397517344
|
0.00008
|
NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu)
|
rs376453794
|
0.00008
|
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala)
|
rs371567666
|
0.00008
|
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His)
|
rs199668532
|
0.00008
|
NM_022124.6(CDH23):c.8979+4C>T
|
rs775540400
|
0.00008
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=)
|
rs756805245
|
0.00008
|
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr)
|
rs748263327
|
0.00008
|
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)
|
rs757135353
|
0.00008
|
NM_032119.4(ADGRV1):c.9448-14G>A
|
rs370196445
|
0.00008
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00008
|
NM_153676.4(USH1C):c.105-4A>G
|
rs201374986
|
0.00008
|
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln)
|
rs895318911
|
0.00008
|
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp)
|
rs202174251
|
0.00008
|
NM_153676.4(USH1C):c.1414-2_1414-1insCTG
|
rs769675063
|
0.00008
|
NM_173477.5(USH1G):c.*202G>A
|
rs557845589
|
0.00008
|
NM_174878.3(CLRN1):c.*9C>G
|
rs201624666
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=)
|
rs144655434
|
0.00008
|
NM_206933.4(USH2A):c.11859T>C (p.Ser3953=)
|
rs141941454
|
0.00008
|
NM_206933.4(USH2A):c.1297C>T (p.Pro433Ser)
|
rs139556361
|
0.00008
|
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)
|
rs200761611
|
0.00008
|
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
|
rs367693972
|
0.00008
|
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)
|
rs537863698
|
0.00008
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00008
|
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val)
|
rs868179223
|
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_000260.4(MYO7A):c.*101G>A
|
rs886048683
|
0.00007
|
NM_000260.4(MYO7A):c.1916A>G (p.Asn639Ser)
|
rs376811825
|
0.00007
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)
|
rs111033224
|
0.00007
|
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys)
|
rs376169396
|
0.00007
|
NM_000260.4(MYO7A):c.2421C>T (p.His807=)
|
rs782218928
|
0.00007
|
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
|
rs782787324
|
0.00007
|
NM_000260.4(MYO7A):c.2761C>T (p.Arg921Trp)
|
rs530696050
|
0.00007
|
NM_000260.4(MYO7A):c.3215C>T (p.Thr1072Ile)
|
rs543040893
|
0.00007
|
NM_000260.4(MYO7A):c.3507C>T (p.Asp1169=)
|
rs782788403
|
0.00007
|
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=)
|
rs372336857
|
0.00007
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331
|
0.00007
|
NM_000260.4(MYO7A):c.519G>A (p.Gln173=)
|
rs369757929
|
0.00007
|
NM_000260.4(MYO7A):c.5480+10G>A
|
rs768513428
|
0.00007
|
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=)
|
rs778051833
|
0.00007
|
NM_000260.4(MYO7A):c.5681C>T (p.Ala1894Val)
|
rs201314332
|
0.00007
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00007
|
NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp)
|
rs369460086
|
0.00007
|
NM_000260.4(MYO7A):c.78G>A (p.Ala26=)
|
rs373517098
|
0.00007
|
NM_001384140.1(PCDH15):c.1979T>A (p.Val660Asp)
|
rs573831072
|
0.00007
|
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys)
|
rs372076259
|
0.00007
|
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu)
|
rs397517455
|
0.00007
|
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met)
|
rs773283153
|
0.00007
|
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg)
|
rs201496062
|
0.00007
|
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)
|
rs201398055
|
0.00007
|
NM_002109.6(HARS1):c.397-11T>G
|
rs763198737
|
0.00007
|
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
|
rs769535360
|
0.00007
|
NM_002109.6(HARS1):c.91-17C>A
|
rs373242229
|
0.00007
|
NM_015404.4(WHRN):c.1349G>A (p.Arg450His)
|
rs200377723
|
0.00007
|
NM_015404.4(WHRN):c.1716C>T (p.Thr572=)
|
rs760471578
|
0.00007
|
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
|
rs555619169
|
0.00007
|
NM_022124.6(CDH23):c.1068C>T (p.Ala356=)
|
rs141247813
|
0.00007
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00007
|
NM_022124.6(CDH23):c.2059+6G>A
|
rs727502923
|
0.00007
|
NM_022124.6(CDH23):c.2290-3C>T
|
rs182365129
|
0.00007
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.324C>T (p.Ser108=)
|
rs373668614
|
0.00007
|
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
|
rs753822806
|
0.00007
|
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met)
|
rs201884261
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys)
|
rs201533282
|
0.00007
|
NM_022124.6(CDH23):c.4700T>C (p.Ile1567Thr)
|
rs756184489
|
0.00007
|
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)
|
rs397517333
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_022124.6(CDH23):c.612G>A (p.Thr204=)
|
rs200200488
|
0.00007
|
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)
|
rs568741210
|
0.00007
|
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln)
|
rs377376107
|
0.00007
|
NM_022124.6(CDH23):c.6830-7A>C
|
rs200587627
|
0.00007
|
NM_022124.6(CDH23):c.7657G>A (p.Val2553Met)
|
rs370325211
|
0.00007
|
NM_022124.6(CDH23):c.8421C>T (p.Ser2807=)
|
rs755841293
|
0.00007
|
NM_022124.6(CDH23):c.856C>T (p.Leu286=)
|
rs727502918
|
0.00007
|
NM_022124.6(CDH23):c.9170G>A (p.Arg3057Gln)
|
rs372141384
|
0.00007
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_032119.4(ADGRV1):c.*193G>A
|
rs369242510
|
0.00007
|
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met)
|
rs199715642
|
0.00007
|
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys)
|
rs371970388
|
0.00007
|
NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala)
|
rs754164679
|
0.00007
|
NM_032119.4(ADGRV1):c.18153-13A>T
|
rs750471995
|
0.00007
|
NM_032119.4(ADGRV1):c.2726T>C (p.Ile909Thr)
|
rs574552282
|
0.00007
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)
|
rs566196345
|
0.00007
|
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)
|
rs200974394
|
0.00007
|
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)
|
rs374348614
|
0.00007
|
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=)
|
rs369183721
|
0.00007
|
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer)
|
rs781176348
|
0.00007
|
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val)
|
rs763628668
|
0.00007
|
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)
|
rs767767573
|
0.00007
|
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)
|
rs377510653
|
0.00007
|
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp)
|
rs368903400
|
0.00007
|
NM_174878.3(CLRN1):c.*1181T>C
|
rs775798558
|
0.00007
|
NM_174878.3(CLRN1):c.*1330T>C
|
rs374292166
|
0.00007
|
NM_174878.3(CLRN1):c.*1331C>T
|
rs763746069
|
0.00007
|
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)
|
rs146014881
|
0.00007
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00007
|
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
|
rs766333064
|
0.00007
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00007
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00007
|
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg)
|
rs768097637
|
0.00007
|
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=)
|
rs369335995
|
0.00007
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00007
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00007
|
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser)
|
rs796610671
|
0.00007
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00007
|
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)
|
rs139847770
|
0.00007
|
NM_206933.4(USH2A):c.14512G>A (p.Gly4838Arg)
|
rs533097255
|
0.00007
|
NM_206933.4(USH2A):c.14961G>A (p.Ala4987=)
|
rs568581229
|
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.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_206933.4(USH2A):c.5061T>C (p.Ile1687=)
|
rs144857806
|
0.00007
|
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)
|
rs371201450
|
0.00007
|
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=)
|
rs764839361
|
0.00007
|
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=)
|
rs41277216
|
0.00007
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
0.00007
|
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser)
|
rs528089082
|
0.00007
|
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=)
|
rs147615382
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00007
|
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=)
|
rs777803742
|
0.00007
|
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp)
|
rs750218932
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NM_000260.4(MYO7A):c.*208C>G
|
rs886048684
|
0.00006
|
NM_000260.4(MYO7A):c.1049C>T (p.Pro350Leu)
|
rs376108484
|
0.00006
|
NM_000260.4(MYO7A):c.3844G>C (p.Glu1282Gln)
|
rs887299357
|
0.00006
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)
|
rs201321140
|
0.00006
|
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)
|
rs544639673
|
0.00006
|
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met)
|
rs1367144630
|
0.00006
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys)
|
rs780609120
|
0.00006
|
NM_000260.4(MYO7A):c.6412G>A (p.Val2138Ile)
|
rs367647666
|
0.00006
|
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val)
|
rs761164010
|
0.00006
|
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His)
|
rs761867896
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_001384140.1(PCDH15):c.200G>A (p.Gly67Glu)
|
rs930665715
|
0.00006
|
NM_001384140.1(PCDH15):c.2386G>A (p.Val796Ile)
|
rs374715306
|
0.00006
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=)
|
rs139873638
|
0.00006
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
0.00006
|
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys)
|
rs200798008
|
0.00006
|
NM_001384140.1(PCDH15):c.882A>G (p.Glu294=)
|
rs181232514
|
0.00006
|
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met)
|
rs370933593
|
0.00006
|
NM_002109.6(HARS1):c.1312-8C>T
|
rs772505507
|
0.00006
|
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln)
|
rs753788498
|
0.00006
|
NM_002109.6(HARS1):c.52G>A (p.Val18Met)
|
rs774632798
|
0.00006
|
NM_002109.6(HARS1):c.721C>T (p.Leu241=)
|
rs200978292
|
0.00006
|
NM_015404.4(WHRN):c.*339C>A
|
rs774074739
|
0.00006
|
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn)
|
rs369521178
|
0.00006
|
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys)
|
rs45530335
|
0.00006
|
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys)
|
rs750834235
|
0.00006
|
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)
|
rs200354989
|
0.00006
|
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn)
|
rs200792189
|
0.00006
|
NM_022124.6(CDH23):c.1241G>A (p.Arg414Gln)
|
rs561032891
|
0.00006
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr)
|
rs756958499
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.2289C>T (p.Thr763=)
|
rs770008354
|
0.00006
|
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys)
|
rs771795434
|
0.00006
|
NM_022124.6(CDH23):c.2766C>T (p.Asn922=)
|
rs371670151
|
0.00006
|
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val)
|
rs202203105
|
0.00006
|
NM_022124.6(CDH23):c.3021C>T (p.Asp1007=)
|
rs771887370
|
0.00006
|
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys)
|
rs772284876
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_022124.6(CDH23):c.336+1G>A
|
rs764824311
|
0.00006
|
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=)
|
rs372172457
|
0.00006
|
NM_022124.6(CDH23):c.4136G>A (p.Arg1379His)
|
rs767004225
|
0.00006
|
NM_022124.6(CDH23):c.419G>A (p.Arg140His)
|
rs201361229
|
0.00006
|
NM_022124.6(CDH23):c.42T>C (p.Leu14=)
|
rs371440350
|
0.00006
|
NM_022124.6(CDH23):c.460G>A (p.Val154Met)
|
rs199741966
|
0.00006
|
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp)
|
rs781339262
|
0.00006
|
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His)
|
rs111033491
|
0.00006
|
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His)
|
rs558551826
|
0.00006
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr)
|
rs528880720
|
0.00006
|
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=)
|
rs368440578
|
0.00006
|
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys)
|
rs776269225
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022124.6(CDH23):c.738C>T (p.Tyr246=)
|
rs745668474
|
0.00006
|
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu)
|
rs758360283
|
0.00006
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val)
|
rs3802707
|
0.00006
|
NM_022124.6(CDH23):c.8426G>A (p.Arg2809His)
|
rs780409612
|
0.00006
|
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys)
|
rs727505254
|
0.00006
|
NM_022124.6(CDH23):c.8784C>T (p.Phe2928=)
|
rs755305739
|
0.00006
|
NM_022124.6(CDH23):c.9639G>A (p.Ser3213=)
|
rs751829738
|
0.00006
|
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro)
|
rs781716568
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr)
|
rs200733236
|
0.00006
|
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser)
|
rs397517420
|
0.00006
|
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=)
|
rs201777525
|
0.00006
|
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)
|
rs757696771
|
0.00006
|
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)
|
rs397517427
|
0.00006
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys)
|
rs202151375
|
0.00006
|
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)
|
rs767811568
|
0.00006
|
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro)
|
rs748917362
|
0.00006
|
NM_153676.4(USH1C):c.*376A>C
|
rs886048057
|
0.00006
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
NM_153676.4(USH1C):c.2373G>A (p.Glu791=)
|
rs746011575
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_153676.4(USH1C):c.759+10G>T
|
rs368528034
|
0.00006
|
NM_153676.4(USH1C):c.921G>A (p.Ala307=)
|
rs778447994
|
0.00006
|
NM_173477.5(USH1G):c.*198T>C
|
rs888150950
|
0.00006
|
NM_173477.5(USH1G):c.*256C>T
|
rs984301455
|
0.00006
|
NM_173477.5(USH1G):c.478C>G (p.Arg160Gly)
|
rs376527217
|
0.00006
|
NM_173477.5(USH1G):c.563G>T (p.Arg188Leu)
|
rs201123735
|
0.00006
|
NM_174878.3(CLRN1):c.*307G>T
|
rs886058091
|
0.00006
|
NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala)
|
rs764632225
|
0.00006
|
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp)
|
rs150617613
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln)
|
rs771999994
|
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.1143+12C>T
|
rs727505167
|
0.00006
|
NM_206933.4(USH2A):c.1158C>A (p.Ile386=)
|
rs1037072307
|
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.13490T>A (p.Phe4497Tyr)
|
rs145719886
|
0.00006
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)
|
rs375429745
|
0.00006
|
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
|
rs112958319
|
0.00006
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
|
rs567937233
|
0.00006
|
NM_206933.4(USH2A):c.1A>G (p.Met1Val)
|
rs924627806
|
0.00006
|
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)
|
rs199571930
|
0.00006
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
rs574882069
|
0.00006
|
NM_206933.4(USH2A):c.4627+510G>A
|
rs941646674
|
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.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.6344C>T (p.Pro2115Leu)
|
rs373034742
|
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.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00006
|
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile)
|
rs142649882
|
0.00006
|
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)
|
rs199885325
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
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_000260.4(MYO7A):c.1003+10C>T
|
rs782382971
|
0.00005
|
NM_000260.4(MYO7A):c.1690+4C>T
|
rs377741637
|
0.00005
|
NM_000260.4(MYO7A):c.1690+9G>T
|
rs371146074
|
0.00005
|
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
|
rs953533173
|
0.00005
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His)
|
rs782693893
|
0.00005
|
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)
|
rs782179888
|
0.00005
|
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp)
|
rs781834630
|
0.00005
|
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=)
|
rs199979876
|
0.00005
|
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val)
|
rs113326082
|
0.00005
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213
|
0.00005
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00005
|
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=)
|
rs77299211
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.3750+8C>T
|
rs930330204
|
0.00005
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00005
|
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)
|
rs756324342
|
0.00005
|
NM_000260.4(MYO7A):c.440G>A (p.Arg147His)
|
rs111033512
|
0.00005
|
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys)
|
rs374766654
|
0.00005
|
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp)
|
rs373048784
|
0.00005
|
NM_000260.4(MYO7A):c.5080G>A (p.Val1694Ile)
|
rs113966094
|
0.00005
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys)
|
rs762836180
|
0.00005
|
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=)
|
rs368749248
|
0.00005
|
NM_000260.4(MYO7A):c.5667G>A (p.Leu1889=)
|
rs747516555
|
0.00005
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)
|
rs373957005
|
0.00005
|
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp)
|
rs782505601
|
0.00005
|
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)
|
rs368026275
|
0.00005
|
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
|
rs750302536
|
0.00005
|
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met)
|
rs367937228
|
0.00005
|
NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln)
|
rs753457449
|
0.00005
|
NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)
|
rs763230126
|
0.00005
|
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=)
|
rs746162109
|
0.00005
|
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile)
|
rs200784596
|
0.00005
|
NM_001384140.1(PCDH15):c.3206A>G (p.Tyr1069Cys)
|
rs775952226
|
0.00005
|
NM_001384140.1(PCDH15):c.3501+6C>T
|
rs370178425
|
0.00005
|
NM_001384140.1(PCDH15):c.3592G>A (p.Glu1198Lys)
|
rs781603185
|
0.00005
|
NM_001384140.1(PCDH15):c.4048C>T (p.Arg1350Cys)
|
rs138398244
|
0.00005
|
NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg)
|
rs550282961
|
0.00005
|
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)
|
rs562377533
|
0.00005
|
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)
|
rs369442293
|
0.00005
|
NM_001384140.1(PCDH15):c.986-11A>G
|
rs374641355
|
0.00005
|
NM_002109.6(HARS1):c.1255A>C (p.Lys419Gln)
|
rs748944828
|
0.00005
|
NM_002109.6(HARS1):c.1452G>A (p.Arg484=)
|
rs149283940
|
0.00005
|
NM_002109.6(HARS1):c.622C>T (p.Leu208=)
|
rs754094386
|
0.00005
|
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)
|
rs186526524
|
0.00005
|
NM_002109.6(HARS1):c.996T>G (p.Thr332=)
|
rs764730067
|
0.00005
|
NM_015404.4(WHRN):c.*149A>G
|
rs563858014
|
0.00005
|
NM_015404.4(WHRN):c.695A>C (p.His232Pro)
|
rs533374297
|
0.00005
|
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe)
|
rs780855079
|
0.00005
|
NM_022124.6(CDH23):c.158C>A (p.Thr53Asn)
|
rs761428295
|
0.00005
|
NM_022124.6(CDH23):c.1618G>A (p.Gly540Ser)
|
rs371116044
|
0.00005
|
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln)
|
rs776970952
|
0.00005
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00005
|
NM_022124.6(CDH23):c.2419C>T (p.Leu807=)
|
rs748582000
|
0.00005
|
NM_022124.6(CDH23):c.2536G>A (p.Asp846Asn)
|
rs372807578
|
0.00005
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00005
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00005
|
NM_022124.6(CDH23):c.2875G>A (p.Ala959Thr)
|
rs200196800
|
0.00005
|
NM_022124.6(CDH23):c.30C>T (p.His10=)
|
rs572955107
|
0.00005
|
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met)
|
rs756165682
|
0.00005
|
NM_022124.6(CDH23):c.330C>T (p.His110=)
|
rs201232514
|
0.00005
|
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=)
|
rs774716336
|
0.00005
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00005
|
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu)
|
rs371145622
|
0.00005
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00005
|
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His)
|
rs727502927
|
0.00005
|
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys)
|
rs555430482
|
0.00005
|
NM_022124.6(CDH23):c.4854G>A (p.Thr1618=)
|
rs376538879
|
0.00005
|
NM_022124.6(CDH23):c.4857C>T (p.His1619=)
|
rs369817589
|
0.00005
|
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=)
|
rs757049933
|
0.00005
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00005
|
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg)
|
rs372822465
|
0.00005
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00005
|
NM_022124.6(CDH23):c.588G>A (p.Glu196=)
|
rs886047129
|
0.00005
|
NM_022124.6(CDH23):c.6086G>A (p.Arg2029Gln)
|
rs542400234
|
0.00005
|
NM_022124.6(CDH23):c.7114G>A (p.Val2372Met)
|
rs550770402
|
0.00005
|
NM_022124.6(CDH23):c.7613A>G (p.Glu2538Gly)
|
rs371064571
|
0.00005
|
NM_022124.6(CDH23):c.7838G>A (p.Arg2613His)
|
rs768688999
|
0.00005
|
NM_022124.6(CDH23):c.8065-5C>A
|
rs561693723
|
0.00005
|
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys)
|
rs373602652
|
0.00005
|
NM_022124.6(CDH23):c.8913C>T (p.Phe2971=)
|
rs915502924
|
0.00005
|
NM_022124.6(CDH23):c.968G>A (p.Arg323His)
|
rs181449189
|
0.00005
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00005
|
NM_022124.6(CDH23):c.9941C>T (p.Thr3314Met)
|
rs559427378
|
0.00005
|
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)
|
rs200943280
|
0.00005
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385
|
0.00005
|
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)
|
rs532839486
|
0.00005
|
NM_032119.4(ADGRV1):c.13568G>C (p.Ser4523Thr)
|
rs376673439
|
0.00005
|
NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=)
|
rs137853917
|
0.00005
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416
|
0.00005
|
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
|
rs746621216
|
0.00005
|
NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys)
|
rs956307189
|
0.00005
|
NM_032119.4(ADGRV1):c.17204+4A>G
|
rs376691612
|
0.00005
|
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
|
rs377173958
|
0.00005
|
NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=)
|
rs562067191
|
0.00005
|
NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu)
|
rs200730114
|
0.00005
|
NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=)
|
rs763406021
|
0.00005
|
NM_032119.4(ADGRV1):c.5522G>A (p.Arg1841His)
|
rs757053598
|
0.00005
|
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu)
|
rs771317730
|
0.00005
|
NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=)
|
rs772103054
|
0.00005
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)
|
rs555466095
|
0.00005
|
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp)
|
rs745335831
|
0.00005
|
NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys)
|
rs775361471
|
0.00005
|
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)
|
rs745583797
|
0.00005
|
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
|
rs140047846
|
0.00005
|
NM_153676.4(USH1C):c.2112A>G (p.Pro704=)
|
rs199532754
|
0.00005
|
NM_153676.4(USH1C):c.2310C>T (p.Gly770=)
|
rs375492038
|
0.00005
|
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
|
rs199729381
|
0.00005
|
NM_153676.4(USH1C):c.540C>T (p.Leu180=)
|
rs145510974
|
0.00005
|
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys)
|
rs141771249
|
0.00005
|
NM_153676.4(USH1C):c.822T>A (p.Ala274=)
|
rs769539248
|
0.00005
|
NM_173477.5(USH1G):c.*1052C>T
|
rs536064705
|
0.00005
|
NM_173477.5(USH1G):c.*831C>T
|
rs977400332
|
0.00005
|
NM_174878.3(CLRN1):c.*1032T>C
|
rs564545961
|
0.00005
|
NM_174878.3(CLRN1):c.*1165C>G
|
rs769315815
|
0.00005
|
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)
|
rs3796241
|
0.00005
|
NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe)
|
rs144691725
|
0.00005
|
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu)
|
rs1038876830
|
0.00005
|
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
|
rs55967206
|
0.00005
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00005
|
NM_206933.4(USH2A):c.11390-10C>T
|
rs750110818
|
0.00005
|
NM_206933.4(USH2A):c.11821C>T (p.Arg3941Trp)
|
rs749942414
|
0.00005
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00005
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
0.00005
|
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=)
|
rs113805451
|
0.00005
|
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=)
|
rs192709780
|
0.00005
|
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
|
rs374654481
|
0.00005
|
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
|
rs753823008
|
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.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)
|
rs200934092
|
0.00005
|
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00005
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)
|
rs778669346
|
0.00005
|
NM_206933.4(USH2A):c.14904C>T (p.Asp4968=)
|
rs151165599
|
0.00005
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00005
|
NM_206933.4(USH2A):c.15369C>T (p.Val5123=)
|
rs142939648
|
0.00005
|
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
|
rs766038321
|
0.00005
|
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)
|
rs41313732
|
0.00005
|
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)
|
rs145383772
|
0.00005
|
NM_206933.4(USH2A):c.2920G>A (p.Asp974Asn)
|
rs540564733
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00005
|
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)
|
rs369357349
|
0.00005
|
NM_206933.4(USH2A):c.4627+10T>C
|
rs148657311
|
0.00005
|
NM_206933.4(USH2A):c.4627+610G>A
|
rs886045947
|
0.00005
|
NM_206933.4(USH2A):c.60G>T (p.Leu20Phe)
|
rs767611127
|
0.00005
|
NM_206933.4(USH2A):c.6325+7390C>T
|
rs207461108
|
0.00005
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His)
|
rs777618162
|
0.00005
|
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp)
|
rs568902534
|
0.00005
|
NM_206933.4(USH2A):c.8631C>G (p.His2877Gln)
|
rs954532372
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_206933.4(USH2A):c.9201T>C (p.Asn3067=)
|
rs764236480
|
0.00005
|
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met)
|
rs147267500
|
0.00005
|
NM_206933.4(USH2A):c.9460G>A (p.Ala3154Thr)
|
rs150266899
|
0.00005
|
NM_000260.4(MYO7A):c.-160G>A
|
rs576789908
|
0.00004
|
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)
|
rs369916141
|
0.00004
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
0.00004
|
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)
|
rs369142107
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000260.4(MYO7A):c.1797+13C>T
|
rs782461418
|
0.00004
|
NM_000260.4(MYO7A):c.1852C>G (p.Leu618Val)
|
rs1450279958
|
0.00004
|
NM_000260.4(MYO7A):c.19-3T>C
|
rs572658145
|
0.00004
|
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln)
|
rs781812509
|
0.00004
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu)
|
rs782757893
|
0.00004
|
NM_000260.4(MYO7A):c.2267G>A (p.Arg756Gln)
|
rs782719957
|
0.00004
|
NM_000260.4(MYO7A):c.2307C>T (p.Asn769=)
|
rs782329400
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His)
|
rs199607235
|
0.00004
|
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=)
|
rs782554940
|
0.00004
|
NM_000260.4(MYO7A):c.2762G>A (p.Arg921Gln)
|
rs782498923
|
0.00004
|
NM_000260.4(MYO7A):c.3375+12C>T
|
rs781935881
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp)
|
rs886048671
|
0.00004
|
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser)
|
rs775908821
|
0.00004
|
NM_000260.4(MYO7A):c.3865G>A (p.Asp1289Asn)
|
rs371221562
|
0.00004
|
NM_000260.4(MYO7A):c.3924+8C>T
|
rs565801140
|
0.00004
|
NM_000260.4(MYO7A):c.4019C>T (p.Ala1340Val)
|
rs370330847
|
0.00004
|
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met)
|
rs547006116
|
0.00004
|
NM_000260.4(MYO7A):c.444C>T (p.Asn148=)
|
rs1253765162
|
0.00004
|
NM_000260.4(MYO7A):c.4768A>G (p.Ile1590Val)
|
rs761363022
|
0.00004
|
NM_000260.4(MYO7A):c.495G>A (p.Thr165=)
|
rs532833627
|
0.00004
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654
|
0.00004
|
NM_000260.4(MYO7A):c.5109G>A (p.Ala1703=)
|
rs374162462
|
0.00004
|
NM_000260.4(MYO7A):c.5388C>T (p.Thr1796=)
|
rs372062718
|
0.00004
|
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=)
|
rs548620787
|
0.00004
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=)
|
rs773907543
|
0.00004
|
NM_000260.4(MYO7A):c.6181C>T (p.Arg2061Trp)
|
rs780940577
|
0.00004
|
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)
|
rs782546306
|
0.00004
|
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)
|
rs765083332
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_000260.4(MYO7A):c.6346G>A (p.Glu2116Lys)
|
rs781592754
|
0.00004
|
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)
|
rs374575441
|
0.00004
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_000260.4(MYO7A):c.813C>T (p.Gly271=)
|
rs781810349
|
0.00004
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
0.00004
|
NM_001384140.1(PCDH15):c.19C>A (p.Leu7Ile)
|
rs762092314
|
0.00004
|
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His)
|
rs746610406
|
0.00004
|
NM_001384140.1(PCDH15):c.2673T>G (p.Ser891Arg)
|
rs1052481975
|
0.00004
|
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu)
|
rs374205826
|
0.00004
|
NM_001384140.1(PCDH15):c.2978A>G (p.Asn993Ser)
|
rs141419177
|
0.00004
|
NM_001384140.1(PCDH15):c.3328G>A (p.Asp1110Asn)
|
rs138363888
|
0.00004
|
NM_001384140.1(PCDH15):c.3456T>C (p.Gly1152=)
|
rs202091131
|
0.00004
|
NM_001384140.1(PCDH15):c.4272A>G (p.Pro1424=)
|
rs759109238
|
0.00004
|
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu)
|
rs374714898
|
0.00004
|
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys)
|
rs565693539
|
0.00004
|
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu)
|
rs138299477
|
0.00004
|
NM_002109.6(HARS1):c.100G>C (p.Glu34Gln)
|
rs377739193
|
0.00004
|
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn)
|
rs144322728
|
0.00004
|
NM_002109.6(HARS1):c.1124G>A (p.Arg375His)
|
rs151258227
|
0.00004
|
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu)
|
rs377410852
|
0.00004
|
NM_002109.6(HARS1):c.1194+20T>C
|
rs750746864
|
0.00004
|
NM_002109.6(HARS1):c.1195-18T>C
|
rs777231572
|
0.00004
|
NM_002109.6(HARS1):c.1221G>A (p.Thr407=)
|
rs150274370
|
0.00004
|
NM_002109.6(HARS1):c.494G>A (p.Arg165His)
|
rs373522589
|
0.00004
|
NM_002109.6(HARS1):c.522+17C>T
|
rs201107108
|
0.00004
|
NM_002109.6(HARS1):c.800T>C (p.Ile267Thr)
|
rs766324898
|
0.00004
|
NM_002109.6(HARS1):c.88C>A (p.Leu30Met)
|
rs1247070065
|
0.00004
|
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter)
|
rs201845656
|
0.00004
|
NM_015404.4(WHRN):c.1555A>G (p.Met519Val)
|
rs768008029
|
0.00004
|
NM_015404.4(WHRN):c.1626+8T>G
|
rs547616329
|
0.00004
|
NM_015404.4(WHRN):c.933A>C (p.Pro311=)
|
rs569159249
|
0.00004
|
NM_022124.6(CDH23):c.1062C>T (p.Ser354=)
|
rs775091135
|
0.00004
|
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn)
|
rs727502920
|
0.00004
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612
|
0.00004
|
NM_022124.6(CDH23):c.1504G>A (p.Asp502Asn)
|
rs200459094
|
0.00004
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
NM_022124.6(CDH23):c.1719C>T (p.Asn573=)
|
rs761913744
|
0.00004
|
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln)
|
rs200263980
|
0.00004
|
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp)
|
rs375781856
|
0.00004
|
NM_022124.6(CDH23):c.205G>A (p.Val69Met)
|
rs563224115
|
0.00004
|
NM_022124.6(CDH23):c.2368A>G (p.Met790Val)
|
rs187827251
|
0.00004
|
NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys)
|
rs372387390
|
0.00004
|
NM_022124.6(CDH23):c.2560C>T (p.Arg854Cys)
|
rs768340895
|
0.00004
|
NM_022124.6(CDH23):c.3106+11G>A
|
rs759689776
|
0.00004
|
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=)
|
rs568924674
|
0.00004
|
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser)
|
rs749105554
|
0.00004
|
NM_022124.6(CDH23):c.4230C>T (p.Asp1410=)
|
rs762720558
|
0.00004
|
NM_022124.6(CDH23):c.4267G>A (p.Asp1423Asn)
|
rs779009042
|
0.00004
|
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)
|
rs369559033
|
0.00004
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
NM_022124.6(CDH23):c.4431C>T (p.Gly1477=)
|
rs763102268
|
0.00004
|
NM_022124.6(CDH23):c.4853C>T (p.Thr1618Met)
|
rs371884850
|
0.00004
|
NM_022124.6(CDH23):c.499G>A (p.Val167Ile)
|
rs772995621
|
0.00004
|
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser)
|
rs781280613
|
0.00004
|
NM_022124.6(CDH23):c.5535C>T (p.Asn1845=)
|
rs779425775
|
0.00004
|
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His)
|
rs746971522
|
0.00004
|
NM_022124.6(CDH23):c.5796G>A (p.Pro1932=)
|
rs370965108
|
0.00004
|
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=)
|
rs397517347
|
0.00004
|
NM_022124.6(CDH23):c.5989G>A (p.Val1997Met)
|
rs755121910
|
0.00004
|
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr)
|
rs368381520
|
0.00004
|
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)
|
rs537971045
|
0.00004
|
NM_022124.6(CDH23):c.6139G>A (p.Gly2047Arg)
|
rs750815841
|
0.00004
|
NM_022124.6(CDH23):c.6320G>A (p.Arg2107Gln)
|
rs780094972
|
0.00004
|
NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn)
|
rs555684781
|
0.00004
|
NM_022124.6(CDH23):c.6665G>A (p.Arg2222His)
|
rs534969331
|
0.00004
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=)
|
rs761613739
|
0.00004
|
NM_022124.6(CDH23):c.7569G>A (p.Pro2523=)
|
rs533989797
|
0.00004
|
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg)
|
rs373649718
|
0.00004
|
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)
|
rs749501038
|
0.00004
|
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly)
|
rs754761193
|
0.00004
|
NM_022124.6(CDH23):c.8064+13C>A
|
rs374981343
|
0.00004
|
NM_022124.6(CDH23):c.8316C>T (p.Asn2772=)
|
rs368145346
|
0.00004
|
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His)
|
rs376835293
|
0.00004
|
NM_022124.6(CDH23):c.8624T>C (p.Ile2875Thr)
|
rs776064526
|
0.00004
|
NM_022124.6(CDH23):c.8790G>A (p.Val2930=)
|
rs753235775
|
0.00004
|
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys)
|
rs746716712
|
0.00004
|
NM_022124.6(CDH23):c.8931C>T (p.His2977=)
|
rs781099726
|
0.00004
|
NM_022124.6(CDH23):c.9198+10G>A
|
rs758760731
|
0.00004
|
NM_022124.6(CDH23):c.9511-7T>C
|
rs531195164
|
0.00004
|
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)
|
rs763303827
|
0.00004
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
NM_032119.4(ADGRV1):c.*124C>T
|
rs547829526
|
0.00004
|
NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=)
|
rs374165491
|
0.00004
|
NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr)
|
rs376911431
|
0.00004
|
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
|
rs550815037
|
0.00004
|
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)
|
rs765063091
|
0.00004
|
NM_032119.4(ADGRV1):c.14043+7C>T
|
rs563519322
|
0.00004
|
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)
|
rs376376418
|
0.00004
|
NM_032119.4(ADGRV1):c.15394G>A (p.Gly5132Arg)
|
rs199579753
|
0.00004
|
NM_032119.4(ADGRV1):c.17455-6T>C
|
rs773817946
|
0.00004
|
NM_032119.4(ADGRV1):c.17667C>G (p.His5889Gln)
|
rs56382582
|
0.00004
|
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=)
|
rs752223599
|
0.00004
|
NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala)
|
rs78627723
|
0.00004
|
NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg)
|
rs572283380
|
0.00004
|
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=)
|
rs201516498
|
0.00004
|
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln)
|
rs199735068
|
0.00004
|
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
|
rs766007827
|
0.00004
|
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)
|
rs370432538
|
0.00004
|
NM_032119.4(ADGRV1):c.5005A>G (p.Ile1669Val)
|
rs760285831
|
0.00004
|
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=)
|
rs760814922
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys)
|
rs746214033
|
0.00004
|
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys)
|
rs751129081
|
0.00004
|
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)
|
rs751539473
|
0.00004
|
NM_033056.4(PCDH15):c.4774C>T (p.Pro1592Ser)
|
rs773753270
|
0.00004
|
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)
|
rs558224212
|
0.00004
|
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu)
|
rs143438666
|
0.00004
|
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu)
|
rs759208006
|
0.00004
|
NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=)
|
rs572643730
|
0.00004
|
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu)
|
rs147727092
|
0.00004
|
NM_153676.4(USH1C):c.*95C>T
|
rs552838747
|
0.00004
|
NM_153676.4(USH1C):c.1793G>A (p.Arg598His)
|
rs767863235
|
0.00004
|
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln)
|
rs372497947
|
0.00004
|
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)
|
rs397517875
|
0.00004
|
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys)
|
rs772123405
|
0.00004
|
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)
|
rs200428926
|
0.00004
|
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)
|
rs372227474
|
0.00004
|
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys)
|
rs876658111
|
0.00004
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00004
|
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro)
|
rs142730611
|
0.00004
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456
|
0.00004
|
NM_153676.4(USH1C):c.781G>A (p.Val261Ile)
|
rs749119650
|
0.00004
|
NM_153676.4(USH1C):c.864T>G (p.Ile288Met)
|
rs754717329
|
0.00004
|
NM_173477.5(USH1G):c.*1154T>A
|
rs1475669077
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)
|
rs111033434
|
0.00004
|
NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser)
|
rs764099313
|
0.00004
|
NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe)
|
rs201625237
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_206933.4(USH2A):c.-305C>G
|
rs1430551833
|
0.00004
|
NM_206933.4(USH2A):c.-355C>G
|
rs868097748
|
0.00004
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00004
|
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
|
rs759338880
|
0.00004
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly)
|
rs149527139
|
0.00004
|
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
|
rs201961789
|
0.00004
|
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
|
rs182741276
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
NM_206933.4(USH2A):c.126C>T (p.Asn42=)
|
rs774473277
|
0.00004
|
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=)
|
rs1197075904
|
0.00004
|
NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala)
|
rs755416914
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
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.13812-5T>C
|
rs371583628
|
0.00004
|
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys)
|
rs139997881
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.14532G>A (p.Thr4844=)
|
rs150350278
|
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.14761G>A (p.Glu4921Lys)
|
rs754834155
|
0.00004
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
0.00004
|
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu)
|
rs758660532
|
0.00004
|
NM_206933.4(USH2A):c.15249G>C (p.Gln5083His)
|
rs768977235
|
0.00004
|
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)
|
rs753175395
|
0.00004
|
NM_206933.4(USH2A):c.15432C>T (p.Ser5144=)
|
rs145362017
|
0.00004
|
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys)
|
rs570446209
|
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.2167+15A>G
|
rs779599960
|
0.00004
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00004
|
NM_206933.4(USH2A):c.22T>C (p.Leu8=)
|
rs778803503
|
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.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp)
|
rs540537272
|
0.00004
|
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr)
|
rs752059469
|
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.6096A>G (p.Leu2032=)
|
rs376669318
|
0.00004
|
NM_206933.4(USH2A):c.6372A>T (p.Thr2124=)
|
rs548332655
|
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.723T>C (p.Thr241=)
|
rs571744403
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_206933.4(USH2A):c.7537T>G (p.Ser2513Ala)
|
rs375987841
|
0.00004
|
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys)
|
rs777682016
|
0.00004
|
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp)
|
rs141134147
|
0.00004
|
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=)
|
rs571110005
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg)
|
rs753212183
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr)
|
rs758614136
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_000260.4(MYO7A):c.-170C>T
|
rs886048667
|
0.00003
|
NM_000260.4(MYO7A):c.-20G>A
|
rs886048668
|
0.00003
|
NM_000260.4(MYO7A):c.1186G>A (p.Asp396Asn)
|
rs375867186
|
0.00003
|
NM_000260.4(MYO7A):c.1343+7C>T
|
rs782595035
|
0.00003
|
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)
|
rs559209306
|
0.00003
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00003
|
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys)
|
rs782364394
|
0.00003
|
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg)
|
rs572300575
|
0.00003
|
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp)
|
rs886048676
|
0.00003
|
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)
|
rs372188355
|
0.00003
|
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly)
|
rs111033339
|
0.00003
|
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln)
|
rs561347333
|
0.00003
|
NM_000260.4(MYO7A):c.2427G>T (p.Gln809His)
|
rs782650544
|
0.00003
|
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln)
|
rs1052032
|
0.00003
|
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
|
rs782726270
|
0.00003
|
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)
|
rs781916427
|
0.00003
|
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His)
|
rs868977760
|
0.00003
|
NM_000260.4(MYO7A):c.2905-1G>A
|
rs1171417339
|
0.00003
|
NM_000260.4(MYO7A):c.2920C>T (p.Arg974Trp)
|
rs782582076
|
0.00003
|
NM_000260.4(MYO7A):c.3013G>A (p.Ala1005Thr)
|
rs782471298
|
0.00003
|
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=)
|
rs370305347
|
0.00003
|
NM_000260.4(MYO7A):c.341A>G (p.Tyr114Cys)
|
rs782587841
|
0.00003
|
NM_000260.4(MYO7A):c.3568C>T (p.Arg1190Trp)
|
rs782011801
|
0.00003
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00003
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg)
|
rs780594308
|
0.00003
|
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=)
|
rs727504631
|
0.00003
|
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly)
|
rs781670345
|
0.00003
|
NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=)
|
rs750763506
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
|
rs750647872
|
0.00003
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn)
|
rs370601111
|
0.00003
|
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly)
|
rs377391891
|
0.00003
|
NM_000260.4(MYO7A):c.4308C>T (p.Ile1436=)
|
rs189972611
|
0.00003
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=)
|
rs757971917
|
0.00003
|
NM_000260.4(MYO7A):c.4772G>A (p.Arg1591His)
|
rs771059248
|
0.00003
|
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys)
|
rs749146420
|
0.00003
|
NM_000260.4(MYO7A):c.4852G>A (p.Ala1618Thr)
|
rs772542296
|
0.00003
|
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)
|
rs767975012
|
0.00003
|
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys)
|
rs529974676
|
0.00003
|
NM_000260.4(MYO7A):c.5162A>G (p.Tyr1721Cys)
|
rs1174776498
|
0.00003
|
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)
|
rs574917232
|
0.00003
|
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu)
|
rs757896867
|
0.00003
|
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)
|
rs777954362
|
0.00003
|
NM_000260.4(MYO7A):c.54G>C (p.Gln18His)
|
rs371849195
|
0.00003
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
0.00003
|
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=)
|
rs375627342
|
0.00003
|
NM_000260.4(MYO7A):c.593-4G>A
|
rs876657534
|
0.00003
|
NM_000260.4(MYO7A):c.6003G>A (p.Thr2001=)
|
rs775879461
|
0.00003
|
NM_000260.4(MYO7A):c.6089C>T (p.Thr2030Met)
|
rs768874284
|
0.00003
|
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln)
|
rs762258869
|
0.00003
|
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)
|
rs185061452
|
0.00003
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_000260.4(MYO7A):c.658C>T (p.His220Tyr)
|
rs781857167
|
0.00003
|
NM_000260.4(MYO7A):c.759C>T (p.His253=)
|
rs182220009
|
0.00003
|
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)
|
rs979094623
|
0.00003
|
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu)
|
rs761666704
|
0.00003
|
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)
|
rs199566950
|
0.00003
|
NM_001384140.1(PCDH15):c.128T>C (p.Ile43Thr)
|
rs766772151
|
0.00003
|
NM_001384140.1(PCDH15):c.1327C>G (p.Leu443Val)
|
rs779957406
|
0.00003
|
NM_001384140.1(PCDH15):c.1427C>T (p.Thr476Ile)
|
rs967946862
|
0.00003
|
NM_001384140.1(PCDH15):c.146A>G (p.Glu49Gly)
|
rs184026653
|
0.00003
|
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser)
|
rs373731707
|
0.00003
|
NM_001384140.1(PCDH15):c.2082G>A (p.Arg694=)
|
rs756484846
|
0.00003
|
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser)
|
rs190878515
|
0.00003
|
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser)
|
rs150891423
|
0.00003
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp)
|
rs150387187
|
0.00003
|
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe)
|
rs752490775
|
0.00003
|
NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg)
|
rs778508372
|
0.00003
|
NM_001384140.1(PCDH15):c.4319C>T (p.Pro1440Leu)
|
rs764173741
|
0.00003
|
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu)
|
rs534173969
|
0.00003
|
NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs)
|
rs760669176
|
0.00003
|
NM_001384140.1(PCDH15):c.602A>G (p.Asn201Ser)
|
rs374283912
|
0.00003
|
NM_001384140.1(PCDH15):c.665A>G (p.Tyr222Cys)
|
rs755845400
|
0.00003
|
NM_001384140.1(PCDH15):c.952G>C (p.Asp318His)
|
rs747921916
|
0.00003
|
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=)
|
rs994026891
|
0.00003
|
NM_002109.6(HARS1):c.1086C>T (p.Arg362=)
|
rs139251223
|
0.00003
|
NM_002109.6(HARS1):c.1194+13A>G
|
rs201733468
|
0.00003
|
NM_002109.6(HARS1):c.1213C>A (p.Arg405=)
|
rs908109064
|
0.00003
|
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)
|
rs369070016
|
0.00003
|
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)
|
rs1204851184
|
0.00003
|
NM_002109.6(HARS1):c.1446G>A (p.Thr482=)
|
rs756452677
|
0.00003
|
NM_002109.6(HARS1):c.218G>A (p.Arg73His)
|
rs767325912
|
0.00003
|
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys)
|
rs774017621
|
0.00003
|
NM_002109.6(HARS1):c.24G>A (p.Glu8=)
|
rs756386121
|
0.00003
|
NM_002109.6(HARS1):c.445C>T (p.Arg149Cys)
|
rs138035024
|
0.00003
|
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr)
|
rs745780898
|
0.00003
|
NM_002109.6(HARS1):c.630+6A>G
|
rs2481258344
|
0.00003
|
NM_002109.6(HARS1):c.637G>A (p.Asp213Asn)
|
rs759634200
|
0.00003
|
NM_002109.6(HARS1):c.797G>A (p.Arg266His)
|
rs765223763
|
0.00003
|
NM_002109.6(HARS1):c.819A>G (p.Gln273=)
|
rs372436915
|
0.00003
|
NM_002109.6(HARS1):c.824-17del
|
rs1211225445
|
0.00003
|
NM_002109.6(HARS1):c.951+18C>T
|
rs775714094
|
0.00003
|
NM_002109.6(HARS1):c.951+5G>T
|
rs1473283139
|
0.00003
|
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)
|
rs780168150
|
0.00003
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
NM_015404.4(WHRN):c.-23C>G
|
rs770413185
|
0.00003
|
NM_015404.4(WHRN):c.1097G>A (p.Arg366His)
|
rs763238664
|
0.00003
|
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu)
|
rs763451514
|
0.00003
|
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu)
|
rs768714315
|
0.00003
|
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)
|
rs143464875
|
0.00003
|
NM_015404.4(WHRN):c.324A>G (p.Gln108=)
|
rs763014940
|
0.00003
|
NM_015404.4(WHRN):c.762C>T (p.His254=)
|
rs201171374
|
0.00003
|
NM_022124.6(CDH23):c.*83G>A
|
rs886047143
|
0.00003
|
NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu)
|
rs727504532
|
0.00003
|
NM_022124.6(CDH23):c.10022G>A (p.Arg3341His)
|
rs765298747
|
0.00003
|
NM_022124.6(CDH23):c.10041C>A (p.Thr3347=)
|
rs538081113
|
0.00003
|
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu)
|
rs765455172
|
0.00003
|
NM_022124.6(CDH23):c.2032G>A (p.Val678Ile)
|
rs547668692
|
0.00003
|
NM_022124.6(CDH23):c.2086A>G (p.Thr696Ala)
|
rs372874226
|
0.00003
|
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=)
|
rs565266663
|
0.00003
|
NM_022124.6(CDH23):c.227G>A (p.Arg76His)
|
rs373802615
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.255C>T (p.Gly85=)
|
rs763083679
|
0.00003
|
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn)
|
rs1318444606
|
0.00003
|
NM_022124.6(CDH23):c.2789C>T (p.Pro930Leu)
|
rs763602387
|
0.00003
|
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val)
|
rs779133533
|
0.00003
|
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met)
|
rs762772276
|
0.00003
|
NM_022124.6(CDH23):c.2994C>T (p.Ala998=)
|
rs767831814
|
0.00003
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=)
|
rs767119185
|
0.00003
|
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn)
|
rs199793172
|
0.00003
|
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn)
|
rs397517325
|
0.00003
|
NM_022124.6(CDH23):c.3592G>A (p.Val1198Met)
|
rs774804095
|
0.00003
|
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val)
|
rs886047135
|
0.00003
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met)
|
rs758413650
|
0.00003
|
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)
|
rs776501112
|
0.00003
|
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=)
|
rs201008425
|
0.00003
|
NM_022124.6(CDH23):c.4206+5G>A
|
rs768842900
|
0.00003
|
NM_022124.6(CDH23):c.4250G>A (p.Arg1417Gln)
|
rs369353175
|
0.00003
|
NM_022124.6(CDH23):c.429+4G>A
|
rs397517328
|
0.00003
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys)
|
rs369740230
|
0.00003
|
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=)
|
rs371522191
|
0.00003
|
NM_022124.6(CDH23):c.5443G>A (p.Ala1815Thr)
|
rs199581934
|
0.00003
|
NM_022124.6(CDH23):c.550C>T (p.Arg184Cys)
|
rs779468414
|
0.00003
|
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln)
|
rs375083901
|
0.00003
|
NM_022124.6(CDH23):c.5523G>A (p.Val1841=)
|
rs369513655
|
0.00003
|
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn)
|
rs188078418
|
0.00003
|
NM_022124.6(CDH23):c.559G>A (p.Val187Ile)
|
rs369624952
|
0.00003
|
NM_022124.6(CDH23):c.5610C>T (p.Val1870=)
|
rs568993739
|
0.00003
|
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp)
|
rs750798211
|
0.00003
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00003
|
NM_022124.6(CDH23):c.6556T>A (p.Ser2186Thr)
|
rs374194433
|
0.00003
|
NM_022124.6(CDH23):c.6559G>A (p.Ala2187Thr)
|
rs727504841
|
0.00003
|
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=)
|
rs750385396
|
0.00003
|
NM_022124.6(CDH23):c.6870G>A (p.Thr2290=)
|
rs778092747
|
0.00003
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu)
|
rs538435711
|
0.00003
|
NM_022124.6(CDH23):c.7769C>G (p.Pro2590Arg)
|
rs368781470
|
0.00003
|
NM_022124.6(CDH23):c.777C>A (p.Thr259=)
|
rs542798557
|
0.00003
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
NM_022124.6(CDH23):c.79C>T (p.Arg27Trp)
|
rs370760723
|
0.00003
|
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn)
|
rs749342092
|
0.00003
|
NM_022124.6(CDH23):c.8054C>T (p.Ala2685Val)
|
rs750069887
|
0.00003
|
NM_022124.6(CDH23):c.8304C>T (p.Ile2768=)
|
rs760929762
|
0.00003
|
NM_022124.6(CDH23):c.8310C>T (p.Ala2770=)
|
rs749582906
|
0.00003
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667
|
0.00003
|
NM_022124.6(CDH23):c.8497C>T (p.Arg2833Cys)
|
rs760130862
|
0.00003
|
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)
|
rs766541944
|
0.00003
|
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile)
|
rs748152139
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)
|
rs188966938
|
0.00003
|
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=)
|
rs727504725
|
0.00003
|
NM_022124.6(CDH23):c.9115C>T (p.Arg3039Trp)
|
rs1026597345
|
0.00003
|
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln)
|
rs776346516
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)
|
rs780514498
|
0.00003
|
NM_022124.6(CDH23):c.9526G>A (p.Glu3176Lys)
|
rs771915739
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00003
|
NM_022124.6(CDH23):c.9806G>A (p.Arg3269His)
|
rs747409066
|
0.00003
|
NM_032119.4(ADGRV1):c.*17C>T
|
rs767529084
|
0.00003
|
NM_032119.4(ADGRV1):c.10007C>T (p.Ser3336Phe)
|
rs781697491
|
0.00003
|
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala)
|
rs566526160
|
0.00003
|
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)
|
rs369793306
|
0.00003
|
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu)
|
rs200130204
|
0.00003
|
NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His)
|
rs199701878
|
0.00003
|
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His)
|
rs747856236
|
0.00003
|
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn)
|
rs772117132
|
0.00003
|
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val)
|
rs201767389
|
0.00003
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)
|
rs749956288
|
0.00003
|
NM_032119.4(ADGRV1):c.17595-4C>T
|
rs762535387
|
0.00003
|
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=)
|
rs376904160
|
0.00003
|
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
|
rs547076322
|
0.00003
|
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)
|
rs759771981
|
0.00003
|
NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter)
|
rs746618021
|
0.00003
|
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)
|
rs376900429
|
0.00003
|
NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro)
|
rs771051473
|
0.00003
|
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val)
|
rs187139957
|
0.00003
|
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=)
|
rs111033484
|
0.00003
|
NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser)
|
rs775440063
|
0.00003
|
NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=)
|
rs368303691
|
0.00003
|
NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=)
|
rs755906427
|
0.00003
|
NM_032119.4(ADGRV1):c.5313+4A>G
|
rs748976832
|
0.00003
|
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile)
|
rs759954556
|
0.00003
|
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu)
|
rs375272281
|
0.00003
|
NM_032119.4(ADGRV1):c.8386+12T>C
|
rs780022610
|
0.00003
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00003
|
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met)
|
rs776345555
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_033056.4(PCDH15):c.4599_4600dup (p.Ser1534fs)
|
rs1436725375
|
0.00003
|
NM_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs)
|
rs763882874
|
0.00003
|
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=)
|
rs61862392
|
0.00003
|
NM_033056.4(PCDH15):c.5216A>T (p.Asn1739Ile)
|
rs772081755
|
0.00003
|
NM_033056.4(PCDH15):c.5236C>A (p.Pro1746Thr)
|
rs762526774
|
0.00003
|
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr)
|
rs397517464
|
0.00003
|
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)
|
rs375134176
|
0.00003
|
NM_033056.4(PCDH15):c.5335C>T (p.Pro1779Ser)
|
rs1421385928
|
0.00003
|
NM_033056.4(PCDH15):c.5416C>T (p.Pro1806Ser)
|
rs750061228
|
0.00003
|
NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys)
|
rs371269732
|
0.00003
|
NM_033056.4(PCDH15):c.5755T>A (p.Cys1919Ser)
|
rs376353049
|
0.00003
|
NM_153676.4(USH1C):c.121G>A (p.Val41Met)
|
rs780439529
|
0.00003
|
NM_153676.4(USH1C):c.1548G>A (p.Pro516=)
|
rs780428813
|
0.00003
|
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys)
|
rs117171411
|
0.00003
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247
|
0.00003
|
NM_153676.4(USH1C):c.496C>T (p.His166Tyr)
|
rs367996370
|
0.00003
|
NM_153676.4(USH1C):c.502G>A (p.Gly168Ser)
|
rs1032568806
|
0.00003
|
NM_153676.4(USH1C):c.570G>A (p.Ser190=)
|
rs756709989
|
0.00003
|
NM_153676.4(USH1C):c.579+8C>T
|
rs368634906
|
0.00003
|
NM_173477.5(USH1G):c.*1191G>A
|
rs3859210
|
0.00003
|
NM_173477.5(USH1G):c.*1732C>T
|
rs886053383
|
0.00003
|
NM_173477.5(USH1G):c.*1922A>G
|
rs868650355
|
0.00003
|
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)
|
rs775952116
|
0.00003
|
NM_173477.5(USH1G):c.742C>T (p.Gln248Ter)
|
rs773231689
|
0.00003
|
NM_174878.3(CLRN1):c.254-2132C>T
|
rs758741442
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.10189A>G (p.Lys3397Glu)
|
rs777959748
|
0.00003
|
NM_206933.4(USH2A):c.10208G>A (p.Cys3403Tyr)
|
rs202009522
|
0.00003
|
NM_206933.4(USH2A):c.10355A>G (p.His3452Arg)
|
rs918464664
|
0.00003
|
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
|
rs751148618
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
|
rs755205544
|
0.00003
|
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser)
|
rs776876392
|
0.00003
|
NM_206933.4(USH2A):c.11580C>T (p.Val3860=)
|
rs762253687
|
0.00003
|
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
|
rs754979740
|
0.00003
|
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)
|
rs376528829
|
0.00003
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
rs200202244
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00003
|
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=)
|
rs766310214
|
0.00003
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
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.13955C>A (p.Thr4652Asn)
|
rs148605973
|
0.00003
|
NM_206933.4(USH2A):c.1449G>A (p.Thr483=)
|
rs755603663
|
0.00003
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00003
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
rs201426385
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)
|
rs767137840
|
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.1652G>A (p.Arg551His)
|
rs746477843
|
0.00003
|
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr)
|
rs375656256
|
0.00003
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00003
|
NM_206933.4(USH2A):c.2628T>A (p.Gly876=)
|
rs768522338
|
0.00003
|
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala)
|
rs192918169
|
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.3575G>A (p.Gly1192Asp)
|
rs370882987
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
|
rs768141777
|
0.00003
|
NM_206933.4(USH2A):c.3811+10C>A
|
rs769756794
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
0.00003
|
NM_206933.4(USH2A):c.4096A>T (p.Ile1366Phe)
|
rs779530910
|
0.00003
|
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)
|
rs370430107
|
0.00003
|
NM_206933.4(USH2A):c.4627+686T>A
|
rs977631162
|
0.00003
|
NM_206933.4(USH2A):c.4627+850C>T
|
rs906951959
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
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.6043C>T (p.Leu2015Phe)
|
rs370597096
|
0.00003
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
0.00003
|
NM_206933.4(USH2A):c.627G>A (p.Lys209=)
|
rs146402815
|
0.00003
|
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met)
|
rs1195257429
|
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.7517A>G (p.Tyr2506Cys)
|
rs937606032
|
0.00003
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
rs781229974
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg)
|
rs1048653046
|
0.00003
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
rs373609391
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00003
|
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly)
|
rs373107700
|
0.00003
|
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)
|
rs769479181
|
0.00003
|
NM_206933.4(USH2A):c.9220C>T (p.Leu3074=)
|
rs1460250943
|
0.00003
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
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.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)
|
rs769233119
|
0.00003
|
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)
|
rs369997614
|
0.00002
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00002
|
NM_000260.4(MYO7A):c.1816C>T (p.Arg606Cys)
|
rs567139897
|
0.00002
|
NM_000260.4(MYO7A):c.1820C>T (p.Ser607Leu)
|
rs782598897
|
0.00002
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
NM_000260.4(MYO7A):c.2095-4C>G
|
rs763060756
|
0.00002
|
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)
|
rs781989117
|
0.00002
|
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)
|
rs751034678
|
0.00002
|
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys)
|
rs782165016
|
0.00002
|
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp)
|
rs376796087
|
0.00002
|
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00002
|
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter)
|
rs1334199217
|
0.00002
|
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=)
|
rs782279442
|
0.00002
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
0.00002
|
NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=)
|
rs782816445
|
0.00002
|
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val)
|
rs797044517
|
0.00002
|
NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=)
|
rs782742557
|
0.00002
|
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)
|
rs371374104
|
0.00002
|
NM_000260.4(MYO7A):c.3784G>A (p.Val1262Met)
|
rs370036829
|
0.00002
|
NM_000260.4(MYO7A):c.3829G>A (p.Ala1277Thr)
|
rs1956002675
|
0.00002
|
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met)
|
rs766245260
|
0.00002
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr)
|
rs375066152
|
0.00002
|
NM_000260.4(MYO7A):c.4013G>A (p.Arg1338His)
|
rs778477059
|
0.00002
|
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)
|
rs111534474
|
0.00002
|
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=)
|
rs374492441
|
0.00002
|
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=)
|
rs777008254
|
0.00002
|
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His)
|
rs397516311
|
0.00002
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp)
|
rs1957069970
|
0.00002
|
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp)
|
rs781335672
|
0.00002
|
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys)
|
rs751860887
|
0.00002
|
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His)
|
rs760544219
|
0.00002
|
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=)
|
rs886048681
|
0.00002
|
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=)
|
rs773557376
|
0.00002
|
NM_000260.4(MYO7A):c.5369G>A (p.Arg1790His)
|
rs372016012
|
0.00002
|
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)
|
rs397516317
|
0.00002
|
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met)
|
rs746667217
|
0.00002
|
NM_000260.4(MYO7A):c.5536C>G (p.Pro1846Ala)
|
rs763456971
|
0.00002
|
NM_000260.4(MYO7A):c.5605G>A (p.Asp1869Asn)
|
rs768364790
|
0.00002
|
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)
|
rs866352637
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=)
|
rs749438001
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000260.4(MYO7A):c.5857-3C>A
|
rs727505114
|
0.00002
|
NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val)
|
rs1387553850
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.6002C>T (p.Thr2001Met)
|
rs532542968
|
0.00002
|
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)
|
rs782361954
|
0.00002
|
NM_000260.4(MYO7A):c.618C>T (p.Arg206=)
|
rs375851346
|
0.00002
|
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg)
|
rs779090765
|
0.00002
|
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser)
|
rs747131589
|
0.00002
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
NM_000260.4(MYO7A):c.6626G>A (p.Arg2209Gln)
|
rs776881443
|
0.00002
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala)
|
rs782636303
|
0.00002
|
NM_001195794.1(CLRN1):c.-274A>C
|
rs886058092
|
0.00002
|
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)
|
rs141748845
|
0.00002
|
NM_001384140.1(PCDH15):c.-126G>A
|
rs551107079
|
0.00002
|
NM_001384140.1(PCDH15):c.1099G>T (p.Ala367Ser)
|
rs199537944
|
0.00002
|
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser)
|
rs397517450
|
0.00002
|
NM_001384140.1(PCDH15):c.1440+11T>G
|
rs781463273
|
0.00002
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
|
rs1275245579
|
0.00002
|
NM_001384140.1(PCDH15):c.1918-6C>T
|
rs776285978
|
0.00002
|
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=)
|
rs754253198
|
0.00002
|
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His)
|
rs199824864
|
0.00002
|
NM_001384140.1(PCDH15):c.2564G>A (p.Arg855Gln)
|
rs763530050
|
0.00002
|
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
|
rs201328768
|
0.00002
|
NM_001384140.1(PCDH15):c.2713A>G (p.Met905Val)
|
rs747028333
|
0.00002
|
NM_001384140.1(PCDH15):c.2731A>G (p.Thr911Ala)
|
rs887302573
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.2768C>T (p.Pro923Leu)
|
rs191577774
|
0.00002
|
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr)
|
rs568865061
|
0.00002
|
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His)
|
rs548728030
|
0.00002
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
NM_001384140.1(PCDH15):c.3122+3A>G
|
rs373365331
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384140.1(PCDH15):c.3700G>A (p.Gly1234Ser)
|
rs143149062
|
0.00002
|
NM_001384140.1(PCDH15):c.3821A>G (p.Tyr1274Cys)
|
rs904260491
|
0.00002
|
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)
|
rs752356781
|
0.00002
|
NM_001384140.1(PCDH15):c.4064G>A (p.Arg1355Gln)
|
rs371850442
|
0.00002
|
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys)
|
rs397517459
|
0.00002
|
NM_001384140.1(PCDH15):c.4368-3204C>T
|
rs375657329
|
0.00002
|
NM_001384140.1(PCDH15):c.4671+1523G>T
|
rs755005336
|
0.00002
|
NM_001384140.1(PCDH15):c.4671+1559C>T
|
rs368397508
|
0.00002
|
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)
|
rs755487351
|
0.00002
|
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala)
|
rs200975767
|
0.00002
|
NM_001384140.1(PCDH15):c.725A>C (p.Asn242Thr)
|
rs775673790
|
0.00002
|
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg)
|
rs727503367
|
0.00002
|
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys)
|
rs751272874
|
0.00002
|
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)
|
rs774682373
|
0.00002
|
NM_002109.6(HARS1):c.1194+15G>T
|
rs766705218
|
0.00002
|
NM_002109.6(HARS1):c.1220C>T (p.Thr407Met)
|
rs760726168
|
0.00002
|
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)
|
rs201011416
|
0.00002
|
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)
|
rs387906639
|
0.00002
|
NM_002109.6(HARS1):c.137G>A (p.Gly46Asp)
|
rs967869621
|
0.00002
|
NM_002109.6(HARS1):c.1399G>A (p.Gly467Ser)
|
rs372237777
|
0.00002
|
NM_002109.6(HARS1):c.1442T>C (p.Val481Ala)
|
rs376596538
|
0.00002
|
NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn)
|
rs771603866
|
0.00002
|
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)
|
rs373709175
|
0.00002
|
NM_002109.6(HARS1):c.383G>A (p.Arg128His)
|
rs748062451
|
0.00002
|
NM_002109.6(HARS1):c.396+9C>T
|
rs377689600
|
0.00002
|
NM_002109.6(HARS1):c.472C>T (p.Arg158Trp)
|
rs939538495
|
0.00002
|
NM_002109.6(HARS1):c.585G>C (p.Met195Ile)
|
rs777238077
|
0.00002
|
NM_002109.6(HARS1):c.631-19A>G
|
rs779220042
|
0.00002
|
NM_002109.6(HARS1):c.669C>T (p.Ile223=)
|
rs761474865
|
0.00002
|
NM_002109.6(HARS1):c.941T>C (p.Ile314Thr)
|
rs777214329
|
0.00002
|
NM_002109.6(HARS1):c.956C>T (p.Ser319Phe)
|
rs910919096
|
0.00002
|
NM_006383.4(CIB2):c.352A>G (p.Asn118Asp)
|
rs146274871
|
0.00002
|
NM_015404.4(WHRN):c.1227C>T (p.Ala409=)
|
rs758129253
|
0.00002
|
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala)
|
rs556585167
|
0.00002
|
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp)
|
rs545286422
|
0.00002
|
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala)
|
rs569112844
|
0.00002
|
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu)
|
rs760261757
|
0.00002
|
NM_015404.4(WHRN):c.549G>A (p.Arg183=)
|
rs147477922
|
0.00002
|
NM_022124.6(CDH23):c.-168C>T
|
rs886047126
|
0.00002
|
NM_022124.6(CDH23):c.-38G>C
|
rs886047128
|
0.00002
|
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe)
|
rs376537401
|
0.00002
|
NM_022124.6(CDH23):c.1168T>C (p.Leu390=)
|
rs369803887
|
0.00002
|
NM_022124.6(CDH23):c.1263C>T (p.Tyr421=)
|
rs528720730
|
0.00002
|
NM_022124.6(CDH23):c.1317C>T (p.Asp439=)
|
rs748828988
|
0.00002
|
NM_022124.6(CDH23):c.1370G>A (p.Arg457Gln)
|
rs755373877
|
0.00002
|
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)
|
rs397517307
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_022124.6(CDH23):c.1636C>T (p.Arg546Trp)
|
rs1319955478
|
0.00002
|
NM_022124.6(CDH23):c.1858+6T>C
|
rs745522676
|
0.00002
|
NM_022124.6(CDH23):c.1978G>A (p.Glu660Lys)
|
rs762287437
|
0.00002
|
NM_022124.6(CDH23):c.1990G>A (p.Glu664Lys)
|
rs536056315
|
0.00002
|
NM_022124.6(CDH23):c.2038G>A (p.Val680Met)
|
rs760334573
|
0.00002
|
NM_022124.6(CDH23):c.2971G>A (p.Glu991Lys)
|
rs551073659
|
0.00002
|
NM_022124.6(CDH23):c.321C>G (p.Val107=)
|
rs761122371
|
0.00002
|
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)
|
rs1295355040
|
0.00002
|
NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln)
|
rs747849852
|
0.00002
|
NM_022124.6(CDH23):c.3491G>A (p.Arg1164Gln)
|
rs760170584
|
0.00002
|
NM_022124.6(CDH23):c.3523G>A (p.Val1175Met)
|
rs763379895
|
0.00002
|
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg)
|
rs776158881
|
0.00002
|
NM_022124.6(CDH23):c.3730G>A (p.Val1244Met)
|
rs1478583640
|
0.00002
|
NM_022124.6(CDH23):c.39G>T (p.Trp13Cys)
|
rs1325941288
|
0.00002
|
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His)
|
rs768452198
|
0.00002
|
NM_022124.6(CDH23):c.414C>T (p.Ser138=)
|
rs745908110
|
0.00002
|
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp)
|
rs544278944
|
0.00002
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344
|
0.00002
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00002
|
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro)
|
rs886047138
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His)
|
rs189361642
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.5335G>C (p.Val1779Leu)
|
rs376114326
|
0.00002
|
NM_022124.6(CDH23):c.5386C>A (p.Pro1796Thr)
|
rs776996577
|
0.00002
|
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr)
|
rs757570269
|
0.00002
|
NM_022124.6(CDH23):c.5683C>T (p.Arg1895Cys)
|
rs201490610
|
0.00002
|
NM_022124.6(CDH23):c.5810T>C (p.Ile1937Thr)
|
rs746883593
|
0.00002
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_022124.6(CDH23):c.6194A>G (p.Asn2065Ser)
|
rs765490119
|
0.00002
|
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile)
|
rs749123528
|
0.00002
|
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys)
|
rs375329233
|
0.00002
|
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)
|
rs373462599
|
0.00002
|
NM_022124.6(CDH23):c.6517G>A (p.Glu2173Lys)
|
rs770659035
|
0.00002
|
NM_022124.6(CDH23):c.6562G>A (p.Glu2188Lys)
|
rs1444432865
|
0.00002
|
NM_022124.6(CDH23):c.7054+6T>C
|
rs750286810
|
0.00002
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
NM_022124.6(CDH23):c.7225-11C>G
|
rs1393666972
|
0.00002
|
NM_022124.6(CDH23):c.7462C>T (p.Arg2488Cys)
|
rs909808363
|
0.00002
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
NM_022124.6(CDH23):c.758C>T (p.Thr253Met)
|
rs765002368
|
0.00002
|
NM_022124.6(CDH23):c.7661-8A>G
|
rs754067214
|
0.00002
|
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln)
|
rs769627991
|
0.00002
|
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)
|
rs763721044
|
0.00002
|
NM_022124.6(CDH23):c.7936G>C (p.Gly2646Arg)
|
rs747025744
|
0.00002
|
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)
|
rs1235821368
|
0.00002
|
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)
|
rs369501114
|
0.00002
|
NM_022124.6(CDH23):c.8146G>A (p.Asp2716Asn)
|
rs748766643
|
0.00002
|
NM_022124.6(CDH23):c.8283C>T (p.Asn2761=)
|
rs397517357
|
0.00002
|
NM_022124.6(CDH23):c.8384G>A (p.Arg2795Gln)
|
rs776710271
|
0.00002
|
NM_022124.6(CDH23):c.8464G>A (p.Asp2822Asn)
|
rs1305925095
|
0.00002
|
NM_022124.6(CDH23):c.8572G>A (p.Asp2858Asn)
|
rs757494360
|
0.00002
|
NM_022124.6(CDH23):c.8785G>A (p.Val2929Met)
|
rs781604742
|
0.00002
|
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His)
|
rs373600041
|
0.00002
|
NM_022124.6(CDH23):c.9139G>A (p.Val3047Ile)
|
rs558094423
|
0.00002
|
NM_022124.6(CDH23):c.9199-4G>A
|
rs369900526
|
0.00002
|
NM_022124.6(CDH23):c.9311G>T (p.Gly3104Val)
|
rs376432892
|
0.00002
|
NM_022124.6(CDH23):c.9430G>A (p.Ala3144Thr)
|
rs779358121
|
0.00002
|
NM_022124.6(CDH23):c.9838G>A (p.Asp3280Asn)
|
rs555161519
|
0.00002
|
NM_022124.6(CDH23):c.9858C>T (p.His3286=)
|
rs761835004
|
0.00002
|
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=)
|
rs367684899
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val)
|
rs747192045
|
0.00002
|
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser)
|
rs559004744
|
0.00002
|
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys)
|
rs778286042
|
0.00002
|
NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr)
|
rs78833918
|
0.00002
|
NM_032119.4(ADGRV1):c.12536G>A (p.Arg4179Gln)
|
rs201743191
|
0.00002
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_032119.4(ADGRV1):c.13433+9A>G
|
rs186025461
|
0.00002
|
NM_032119.4(ADGRV1):c.1367T>C (p.Leu456Pro)
|
rs774659694
|
0.00002
|
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
|
rs201953675
|
0.00002
|
NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=)
|
rs375195936
|
0.00002
|
NM_032119.4(ADGRV1):c.16826A>T (p.Asp5609Val)
|
rs755988055
|
0.00002
|
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)
|
rs747622607
|
0.00002
|
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)
|
rs757218098
|
0.00002
|
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg)
|
rs756460900
|
0.00002
|
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=)
|
rs774124713
|
0.00002
|
NM_032119.4(ADGRV1):c.18479G>T (p.Cys6160Phe)
|
rs1242164038
|
0.00002
|
NM_032119.4(ADGRV1):c.1969A>C (p.Asn657His)
|
rs747176117
|
0.00002
|
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala)
|
rs374609813
|
0.00002
|
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)
|
rs373780305
|
0.00002
|
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)
|
rs766225545
|
0.00002
|
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile)
|
rs752969941
|
0.00002
|
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro)
|
rs372262361
|
0.00002
|
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu)
|
rs1300795240
|
0.00002
|
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly)
|
rs746118976
|
0.00002
|
NM_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile)
|
rs760468429
|
0.00002
|
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=)
|
rs1445702123
|
0.00002
|
NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val)
|
rs745642201
|
0.00002
|
NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr)
|
rs997831285
|
0.00002
|
NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=)
|
rs753086932
|
0.00002
|
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=)
|
rs375310575
|
0.00002
|
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)
|
rs267600727
|
0.00002
|
NM_033056.4(PCDH15):c.4553A>T (p.Asp1518Val)
|
rs528484622
|
0.00002
|
NM_033056.4(PCDH15):c.4724_4726dup (p.Ser1575_Gln1576insArg)
|
rs762814533
|
0.00002
|
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)
|
rs397517461
|
0.00002
|
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile)
|
rs772619593
|
0.00002
|
NM_033056.4(PCDH15):c.5178C>T (p.Thr1726=)
|
rs760796538
|
0.00002
|
NM_033056.4(PCDH15):c.5408C>T (p.Ser1803Phe)
|
rs747584616
|
0.00002
|
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)
|
rs750274894
|
0.00002
|
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val)
|
rs760992741
|
0.00002
|
NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly)
|
rs2076301014
|
0.00002
|
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro)
|
rs751586980
|
0.00002
|
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)
|
rs769984840
|
0.00002
|
NM_153676.4(USH1C):c.1211-1106G>A
|
rs201661386
|
0.00002
|
NM_153676.4(USH1C):c.1211-1107C>T
|
rs727504667
|
0.00002
|
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val)
|
rs751388655
|
0.00002
|
NM_153676.4(USH1C):c.204G>T (p.Leu68=)
|
rs140945339
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00002
|
NM_153676.4(USH1C):c.2253G>A (p.Lys751=)
|
rs751998841
|
0.00002
|
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys)
|
rs771504780
|
0.00002
|
NM_153676.4(USH1C):c.2381-10C>T
|
rs765925104
|
0.00002
|
NM_153676.4(USH1C):c.2418C>T (p.Asn806=)
|
rs397517876
|
0.00002
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539
|
0.00002
|
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)
|
rs768207716
|
0.00002
|
NM_153676.4(USH1C):c.388-8T>A
|
rs777486804
|
0.00002
|
NM_153676.4(USH1C):c.497-4G>A
|
rs397517881
|
0.00002
|
NM_153676.4(USH1C):c.614G>A (p.Arg205Gln)
|
rs777321803
|
0.00002
|
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)
|
rs199537187
|
0.00002
|
NM_153676.4(USH1C):c.844C>T (p.Arg282Cys)
|
rs145245642
|
0.00002
|
NM_153676.4(USH1C):c.845G>A (p.Arg282His)
|
rs779111365
|
0.00002
|
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly)
|
rs200322793
|
0.00002
|
NM_173477.5(USH1G):c.-76A>G
|
rs1219469632
|
0.00002
|
NM_173477.5(USH1G):c.1152C>T (p.Asp384=)
|
rs569032124
|
0.00002
|
NM_173477.5(USH1G):c.46C>G (p.Leu16Val)
|
rs876657419
|
0.00002
|
NM_173477.5(USH1G):c.859A>G (p.Thr287Ala)
|
rs199782834
|
0.00002
|
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)
|
rs397517930
|
0.00002
|
NM_174878.3(CLRN1):c.254-2115del
|
rs1032160668
|
0.00002
|
NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu)
|
rs779258184
|
0.00002
|
NM_174878.3(CLRN1):c.66C>A (p.Leu22=)
|
rs375543586
|
0.00002
|
NM_206933.4(USH2A):c.1011T>C (p.Pro337=)
|
rs146950070
|
0.00002
|
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly)
|
rs1198689866
|
0.00002
|
NM_206933.4(USH2A):c.10183-12C>T
|
rs747413632
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
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.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.10969A>G (p.Thr3657Ala)
|
rs747966256
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala)
|
rs765454203
|
0.00002
|
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=)
|
rs143453173
|
0.00002
|
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala)
|
rs760024584
|
0.00002
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_206933.4(USH2A):c.12045C>T (p.Thr4015=)
|
rs755924483
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
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.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00002
|
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr)
|
rs145531316
|
0.00002
|
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
|
rs147304271
|
0.00002
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
0.00002
|
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
|
rs140010020
|
0.00002
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
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.13485T>A (p.Arg4495=)
|
rs533727047
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
|
rs2037663922
|
0.00002
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
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.14344-1G>T
|
rs919142559
|
0.00002
|
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)
|
rs746837034
|
0.00002
|
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)
|
rs773859845
|
0.00002
|
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn)
|
rs1394766722
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
rs750887508
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)
|
rs542341955
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
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.15582C>T (p.Arg5194=)
|
rs775780004
|
0.00002
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
NM_206933.4(USH2A):c.1789C>A (p.His597Asn)
|
rs201127450
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)
|
rs192119790
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580
|
0.00002
|
NM_206933.4(USH2A):c.3212A>G (p.Asn1071Ser)
|
rs533927645
|
0.00002
|
NM_206933.4(USH2A):c.3316+5G>C
|
rs1442104013
|
0.00002
|
NM_206933.4(USH2A):c.3327C>T (p.Tyr1109=)
|
rs758705873
|
0.00002
|
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=)
|
rs755765979
|
0.00002
|
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
|
rs910211433
|
0.00002
|
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile)
|
rs774663133
|
0.00002
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
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.5095C>A (p.Gln1699Lys)
|
rs1351926905
|
0.00002
|
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=)
|
rs747065891
|
0.00002
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00002
|
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly)
|
rs940913250
|
0.00002
|
NM_206933.4(USH2A):c.5538G>C (p.Leu1846=)
|
rs370356689
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
|
rs760543320
|
0.00002
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
0.00002
|
NM_206933.4(USH2A):c.565C>T (p.Arg189Cys)
|
rs370653547
|
0.00002
|
NM_206933.4(USH2A):c.5829T>C (p.Asp1943=)
|
rs140922350
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
|
rs777886737
|
0.00002
|
NM_206933.4(USH2A):c.6050-3T>C
|
rs368789291
|
0.00002
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
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.6197C>T (p.Ser2066Phe)
|
rs2030530878
|
0.00002
|
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
|
rs772409181
|
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.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)
|
rs768253909
|
0.00002
|
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
|
rs150318738
|
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.7194C>T (p.Leu2398=)
|
rs1269441158
|
0.00002
|
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=)
|
rs1305453013
|
0.00002
|
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp)
|
rs1394948601
|
0.00002
|
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe)
|
rs151037142
|
0.00002
|
NM_206933.4(USH2A):c.7776A>G (p.Pro2592=)
|
rs753565758
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)
|
rs766443785
|
0.00002
|
NM_206933.4(USH2A):c.8084A>G (p.Lys2695Arg)
|
rs770631315
|
0.00002
|
NM_206933.4(USH2A):c.8188C>A (p.Pro2730Thr)
|
rs768532694
|
0.00002
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00002
|
NM_206933.4(USH2A):c.8443A>G (p.Thr2815Ala)
|
rs780543913
|
0.00002
|
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
|
rs759063087
|
0.00002
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
rs377309313
|
0.00002
|
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
|
rs1467856164
|
0.00002
|
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn)
|
rs144892841
|
0.00002
|
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)
|
rs759365458
|
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.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His)
|
rs140746096
|
0.00002
|
NC_000001.10:g.216373413A>G
|
rs794729204
|
0.00001
|
NM_000260.4(MYO7A):c.*201T>C
|
rs942399987
|
0.00001
|
NM_000260.4(MYO7A):c.*315C>G
|
rs924986929
|
0.00001
|
NM_000260.4(MYO7A):c.*440G>A
|
rs779826272
|
0.00001
|
NM_000260.4(MYO7A):c.*75C>T
|
rs1958052155
|
0.00001
|
NM_000260.4(MYO7A):c.-196C>T
|
rs886048666
|
0.00001
|
NM_000260.4(MYO7A):c.-46-2A>G
|
rs370329263
|
0.00001
|
NM_000260.4(MYO7A):c.-52C>G
|
rs1950674289
|
0.00001
|
NM_000260.4(MYO7A):c.1053G>A (p.Ser351=)
|
rs187679481
|
0.00001
|
NM_000260.4(MYO7A):c.1058C>T (p.Ala353Val)
|
rs557302067
|
0.00001
|
NM_000260.4(MYO7A):c.1059C>T (p.Ala353=)
|
rs573947142
|
0.00001
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His)
|
rs397516282
|
0.00001
|
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg)
|
rs878853377
|
0.00001
|
NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys)
|
rs876657913
|
0.00001
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
0.00001
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
0.00001
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile)
|
rs1162724549
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=)
|
rs782163200
|
0.00001
|
NM_000260.4(MYO7A):c.132+5G>A
|
rs397516284
|
0.00001
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)
|
rs397516286
|
0.00001
|
NM_000260.4(MYO7A):c.1530C>T (p.Ile510=)
|
rs746423219
|
0.00001
|
NM_000260.4(MYO7A):c.1555-8C>G
|
rs1057517774
|
0.00001
|
NM_000260.4(MYO7A):c.1563del (p.Asp521fs)
|
rs1064794012
|
0.00001
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909
|
0.00001
|
NM_000260.4(MYO7A):c.1612T>C (p.Tyr538His)
|
rs1277502960
|
0.00001
|
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met)
|
rs782450807
|
0.00001
|
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val)
|
rs1282033456
|
0.00001
|
NM_000260.4(MYO7A):c.1710A>G (p.Arg570=)
|
rs782763913
|
0.00001
|
NM_000260.4(MYO7A):c.1723G>A (p.Gly575Arg)
|
rs782154632
|
0.00001
|
NM_000260.4(MYO7A):c.1796T>C (p.Met599Thr)
|
rs1007494594
|
0.00001
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948
|
0.00001
|
NM_000260.4(MYO7A):c.18+2T>A
|
rs564622720
|
0.00001
|
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)
|
rs968552859
|
0.00001
|
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)
|
rs397516289
|
0.00001
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
0.00001
|
NM_000260.4(MYO7A):c.19-1G>A
|
rs111033426
|
0.00001
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
NM_000260.4(MYO7A):c.1935+1G>C
|
rs1343207038
|
0.00001
|
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
|
rs782503314
|
0.00001
|
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro)
|
rs876657416
|
0.00001
|
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=)
|
rs367693437
|
0.00001
|
NM_000260.4(MYO7A):c.1957G>A (p.Val653Met)
|
rs781885773
|
0.00001
|
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu)
|
rs782485961
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
0.00001
|
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=)
|
rs797044658
|
0.00001
|
NM_000260.4(MYO7A):c.2034C>T (p.Phe678=)
|
rs782519043
|
0.00001
|
NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly)
|
rs1555079121
|
0.00001
|
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter)
|
rs782255281
|
0.00001
|
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter)
|
rs1461201353
|
0.00001
|
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu)
|
rs886048670
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.2187+2_2187+8del
|
rs1416744060
|
0.00001
|
NM_000260.4(MYO7A):c.2225A>T (p.Lys742Ile)
|
rs782417254
|
0.00001
|
NM_000260.4(MYO7A):c.224dup (p.Asp75fs)
|
rs1224819887
|
0.00001
|
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)
|
rs782174733
|
0.00001
|
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser)
|
rs782384464
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.2335C>T (p.Arg779Trp)
|
rs919516884
|
0.00001
|
NM_000260.4(MYO7A):c.2337G>A (p.Arg779=)
|
rs782077299
|
0.00001
|
NM_000260.4(MYO7A):c.2362G>A (p.Gly788Arg)
|
rs1174297656
|
0.00001
|
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)
|
rs1241891051
|
0.00001
|
NM_000260.4(MYO7A):c.2420A>C (p.His807Pro)
|
rs782585520
|
0.00001
|
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)
|
rs781926175
|
0.00001
|
NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val)
|
rs374547580
|
0.00001
|
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)
|
rs1279918132
|
0.00001
|
NM_000260.4(MYO7A):c.2487G>A (p.Val829=)
|
rs1452906057
|
0.00001
|
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys)
|
rs781869469
|
0.00001
|
NM_000260.4(MYO7A):c.2526C>T (p.Thr842=)
|
rs782594184
|
0.00001
|
NM_000260.4(MYO7A):c.2553C>G (p.Ile851Met)
|
rs986413500
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.2641C>T (p.Arg881Trp)
|
rs781860354
|
0.00001
|
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=)
|
rs782192254
|
0.00001
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164
|
0.00001
|
NM_000260.4(MYO7A):c.2703G>A (p.Leu901=)
|
rs1198020087
|
0.00001
|
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys)
|
rs782189807
|
0.00001
|
NM_000260.4(MYO7A):c.2806C>T (p.Pro936Ser)
|
rs559446180
|
0.00001
|
NM_000260.4(MYO7A):c.2819C>T (p.Ser940Leu)
|
rs1955180601
|
0.00001
|
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu)
|
rs1357072694
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=)
|
rs397516297
|
0.00001
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)
|
rs782131913
|
0.00001
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
0.00001
|
NM_000260.4(MYO7A):c.293C>T (p.Thr98Met)
|
rs1434564086
|
0.00001
|
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu)
|
rs397516298
|
0.00001
|
NM_000260.4(MYO7A):c.3056G>A (p.Arg1019Gln)
|
rs782204607
|
0.00001
|
NM_000260.4(MYO7A):c.3090C>T (p.Asp1030=)
|
rs782192026
|
0.00001
|
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met)
|
rs377393431
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3276C>T (p.Gly1092=)
|
rs782130985
|
0.00001
|
NM_000260.4(MYO7A):c.3277G>A (p.Glu1093Lys)
|
rs782403609
|
0.00001
|
NM_000260.4(MYO7A):c.3285+3G>A
|
rs1186153232
|
0.00001
|
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter)
|
rs548381313
|
0.00001
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299
|
0.00001
|
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg)
|
rs782313913
|
0.00001
|
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln)
|
rs782140421
|
0.00001
|
NM_000260.4(MYO7A):c.3449A>G (p.Asn1150Ser)
|
rs1555087199
|
0.00001
|
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val)
|
rs782465732
|
0.00001
|
NM_000260.4(MYO7A):c.345G>A (p.Ser115=)
|
rs781980240
|
0.00001
|
NM_000260.4(MYO7A):c.3490C>T (p.Arg1164Trp)
|
rs534291510
|
0.00001
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886
|
0.00001
|
NM_000260.4(MYO7A):c.3504-1G>C
|
rs1555090171
|
0.00001
|
NM_000260.4(MYO7A):c.3514T>A (p.Tyr1172Asn)
|
rs1955862943
|
0.00001
|
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)
|
rs782694195
|
0.00001
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
NM_000260.4(MYO7A):c.3616G>A (p.Glu1206Lys)
|
rs201729482
|
0.00001
|
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=)
|
rs762101560
|
0.00001
|
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln)
|
rs372642675
|
0.00001
|
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg)
|
rs111033195
|
0.00001
|
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)
|
rs758332732
|
0.00001
|
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=)
|
rs751497005
|
0.00001
|
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser)
|
rs755771068
|
0.00001
|
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)
|
rs767426033
|
0.00001
|
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)
|
rs750358148
|
0.00001
|
NM_000260.4(MYO7A):c.3750+4C>T
|
rs764701863
|
0.00001
|
NM_000260.4(MYO7A):c.37G>C (p.Asp13His)
|
rs1555051432
|
0.00001
|
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=)
|
rs771896529
|
0.00001
|
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
|
rs369458838
|
0.00001
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00001
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
0.00001
|
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser)
|
rs769771981
|
0.00001
|
NM_000260.4(MYO7A):c.3956T>C (p.Val1319Ala)
|
rs773962194
|
0.00001
|
NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr)
|
rs1455741859
|
0.00001
|
NM_000260.4(MYO7A):c.4032C>T (p.Leu1344=)
|
rs751639889
|
0.00001
|
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu)
|
rs753630781
|
0.00001
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
0.00001
|
NM_000260.4(MYO7A):c.4153-10C>G
|
rs397516306
|
0.00001
|
NM_000260.4(MYO7A):c.4153-11C>T
|
rs727503330
|
0.00001
|
NM_000260.4(MYO7A):c.4243A>G (p.Thr1415Ala)
|
rs761755624
|
0.00001
|
NM_000260.4(MYO7A):c.4259G>A (p.Arg1420His)
|
rs568337942
|
0.00001
|
NM_000260.4(MYO7A):c.4261G>A (p.Glu1421Lys)
|
rs371268030
|
0.00001
|
NM_000260.4(MYO7A):c.4285G>A (p.Glu1429Lys)
|
rs374171831
|
0.00001
|
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)
|
rs397516308
|
0.00001
|
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter)
|
rs778934538
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
NM_000260.4(MYO7A):c.4445C>T (p.Pro1482Leu)
|
rs1264130915
|
0.00001
|
NM_000260.4(MYO7A):c.4465G>A (p.Val1489Ile)
|
rs1265094428
|
0.00001
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000260.4(MYO7A):c.4510C>T (p.Gln1504Ter)
|
rs1956843263
|
0.00001
|
NM_000260.4(MYO7A):c.4512G>A (p.Gln1504=)
|
rs767236447
|
0.00001
|
NM_000260.4(MYO7A):c.4569-1G>A
|
rs775792432
|
0.00001
|
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val)
|
rs756854177
|
0.00001
|
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)
|
rs759430551
|
0.00001
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
0.00001
|
NM_000260.4(MYO7A):c.471-1G>A
|
rs548172627
|
0.00001
|
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=)
|
rs568414079
|
0.00001
|
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)
|
rs747155741
|
0.00001
|
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys)
|
rs1181067492
|
0.00001
|
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup)
|
rs1555100610
|
0.00001
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623
|
0.00001
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485
|
0.00001
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg)
|
rs372054499
|
0.00001
|
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)
|
rs111033174
|
0.00001
|
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg)
|
rs771889662
|
0.00001
|
NM_000260.4(MYO7A):c.5006T>C (p.Val1669Ala)
|
rs369056903
|
0.00001
|
NM_000260.4(MYO7A):c.5011C>A (p.Pro1671Thr)
|
rs750926300
|
0.00001
|
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
|
rs535102352
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.5102G>A (p.Arg1701Gln)
|
rs544043266
|
0.00001
|
NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met)
|
rs751716334
|
0.00001
|
NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter)
|
rs1236207116
|
0.00001
|
NM_000260.4(MYO7A):c.5228G>A (p.Arg1743Gln)
|
rs778250602
|
0.00001
|
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp)
|
rs757984734
|
0.00001
|
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu)
|
rs746296177
|
0.00001
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455
|
0.00001
|
NM_000260.4(MYO7A):c.5346C>T (p.Gly1782=)
|
rs373822765
|
0.00001
|
NM_000260.4(MYO7A):c.5378A>G (p.Asn1793Ser)
|
rs745704600
|
0.00001
|
NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter)
|
rs1453718975
|
0.00001
|
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter)
|
rs1407313220
|
0.00001
|
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)
|
rs1164918878
|
0.00001
|
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg)
|
rs397516319
|
0.00001
|
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met)
|
rs754761542
|
0.00001
|
NM_000260.4(MYO7A):c.5566C>T (p.Arg1856Cys)
|
rs748052241
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5637-173C>T
|
rs207472020
|
0.00001
|
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg)
|
rs373886432
|
0.00001
|
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp)
|
rs1010166278
|
0.00001
|
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met)
|
rs958153438
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.5809C>T (p.Leu1937Phe)
|
rs1957516566
|
0.00001
|
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=)
|
rs886048682
|
0.00001
|
NM_000260.4(MYO7A):c.5826A>G (p.Gly1942=)
|
rs1957519037
|
0.00001
|
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His)
|
rs767931313
|
0.00001
|
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)
|
rs1453053718
|
0.00001
|
NM_000260.4(MYO7A):c.5857-2A>G
|
rs1555107286
|
0.00001
|
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile)
|
rs371313080
|
0.00001
|
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=)
|
rs375155751
|
0.00001
|
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln)
|
rs762420918
|
0.00001
|
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg)
|
rs761469964
|
0.00001
|
NM_000260.4(MYO7A):c.5945-1G>A
|
rs1268984037
|
0.00001
|
NM_000260.4(MYO7A):c.5950G>T (p.Val1984Leu)
|
rs377517717
|
0.00001
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428
|
0.00001
|
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg)
|
rs560293591
|
0.00001
|
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)
|
rs1173853484
|
0.00001
|
NM_000260.4(MYO7A):c.604del (p.Ala202fs)
|
rs781815916
|
0.00001
|
NM_000260.4(MYO7A):c.6051+2T>C
|
rs1353598791
|
0.00001
|
NM_000260.4(MYO7A):c.6052-3C>T
|
rs368782885
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=)
|
rs1381141633
|
0.00001
|
NM_000260.4(MYO7A):c.6122T>C (p.Ile2041Thr)
|
rs1289796183
|
0.00001
|
NM_000260.4(MYO7A):c.6145G>A (p.Asp2049Asn)
|
rs1336095094
|
0.00001
|
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter)
|
rs776930594
|
0.00001
|
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)
|
rs773945008
|
0.00001
|
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=)
|
rs397516329
|
0.00001
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met)
|
rs769205075
|
0.00001
|
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr)
|
rs1555062954
|
0.00001
|
NM_000260.4(MYO7A):c.6392T>C (p.Ile2131Thr)
|
rs1214326316
|
0.00001
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
NM_000260.4(MYO7A):c.6441T>C (p.Asp2147=)
|
rs547153698
|
0.00001
|
NM_000260.4(MYO7A):c.6486C>T (p.Ser2162=)
|
rs778498696
|
0.00001
|
NM_000260.4(MYO7A):c.64G>T (p.Val22Leu)
|
rs376701580
|
0.00001
|
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=)
|
rs377251326
|
0.00001
|
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250
|
0.00001
|
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile)
|
rs376900309
|
0.00001
|
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His)
|
rs779431269
|
0.00001
|
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter)
|
rs747095250
|
0.00001
|
NM_000260.4(MYO7A):c.741G>A (p.Leu247=)
|
rs1555063817
|
0.00001
|
NM_000260.4(MYO7A):c.849+5G>A
|
rs1060499716
|
0.00001
|
NM_000260.4(MYO7A):c.875G>A (p.Arg292Gln)
|
rs535205981
|
0.00001
|
NM_000260.4(MYO7A):c.910G>A (p.Ala304Thr)
|
rs782124327
|
0.00001
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
0.00001
|
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)
|
rs111033285
|
0.00001
|
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)
|
rs1564634581
|
0.00001
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
0.00001
|
NM_001195794.1(CLRN1):c.-141C>T
|
rs769902137
|
0.00001
|
NM_001195794.1(CLRN1):c.-82T>C
|
rs778235601
|
0.00001
|
NM_001267727.2(ARSG):c.1024C>T (p.Arg342Trp)
|
rs770137900
|
0.00001
|
NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)
|
rs200685916
|
0.00001
|
NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)
|
rs1244718647
|
0.00001
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
NM_001384140.1(PCDH15):c.1007G>A (p.Arg336Gln)
|
rs370442031
|
0.00001
|
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu)
|
rs397517449
|
0.00001
|
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=)
|
rs1315291067
|
0.00001
|
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg)
|
rs758680936
|
0.00001
|
NM_001384140.1(PCDH15):c.1179A>G (p.Pro393=)
|
rs1484114119
|
0.00001
|
NM_001384140.1(PCDH15):c.1180T>C (p.Tyr394His)
|
rs778369017
|
0.00001
|
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=)
|
rs1427922641
|
0.00001
|
NM_001384140.1(PCDH15):c.1228G>T (p.Val410Leu)
|
rs1410944616
|
0.00001
|
NM_001384140.1(PCDH15):c.1268C>T (p.Pro423Leu)
|
rs2049537464
|
0.00001
|
NM_001384140.1(PCDH15):c.1280T>C (p.Val427Ala)
|
rs142698812
|
0.00001
|
NM_001384140.1(PCDH15):c.1377T>C (p.Ile459=)
|
rs763593526
|
0.00001
|
NM_001384140.1(PCDH15):c.1385A>G (p.Tyr462Cys)
|
rs201284699
|
0.00001
|
NM_001384140.1(PCDH15):c.1439C>T (p.Ser480Leu)
|
rs1281151581
|
0.00001
|
NM_001384140.1(PCDH15):c.1440+7A>C
|
rs540070936
|
0.00001
|
NM_001384140.1(PCDH15):c.1450T>C (p.Phe484Leu)
|
rs565753445
|
0.00001
|
NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala)
|
rs570048496
|
0.00001
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
0.00001
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile)
|
rs727505253
|
0.00001
|
NM_001384140.1(PCDH15):c.1631T>G (p.Ile544Ser)
|
rs886047066
|
0.00001
|
NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg)
|
rs764162624
|
0.00001
|
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)
|
rs1264383341
|
0.00001
|
NM_001384140.1(PCDH15):c.1780C>A (p.Arg594=)
|
rs1252259548
|
0.00001
|
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443
|
0.00001
|
NM_001384140.1(PCDH15):c.1808T>C (p.Ile603Thr)
|
rs893216164
|
0.00001
|
NM_001384140.1(PCDH15):c.1812A>C (p.Glu604Asp)
|
rs771456526
|
0.00001
|
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)
|
rs200226791
|
0.00001
|
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys)
|
rs139104747
|
0.00001
|
NM_001384140.1(PCDH15):c.1898C>T (p.Ala633Val)
|
rs1475018348
|
0.00001
|
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888
|
0.00001
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
0.00001
|
NM_001384140.1(PCDH15):c.1970C>T (p.Pro657Leu)
|
rs757098609
|
0.00001
|
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=)
|
rs777099546
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn)
|
rs1189952332
|
0.00001
|
NM_001384140.1(PCDH15):c.2202C>T (p.Ala734=)
|
rs201636125
|
0.00001
|
NM_001384140.1(PCDH15):c.2220+9A>G
|
rs886047065
|
0.00001
|
NM_001384140.1(PCDH15):c.2348A>G (p.Asp783Gly)
|
rs765443935
|
0.00001
|
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys)
|
rs753912234
|
0.00001
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2441A>G (p.Asp814Gly)
|
rs200430672
|
0.00001
|
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=)
|
rs768200772
|
0.00001
|
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
|
rs2547872482
|
0.00001
|
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn)
|
rs751941551
|
0.00001
|
NM_001384140.1(PCDH15):c.2685G>C (p.Leu895=)
|
rs759471464
|
0.00001
|
NM_001384140.1(PCDH15):c.2709A>G (p.Gly903=)
|
rs886047064
|
0.00001
|
NM_001384140.1(PCDH15):c.2751+8C>T
|
rs1360011079
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu)
|
rs771024131
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly)
|
rs1223956690
|
0.00001
|
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=)
|
rs2088092428
|
0.00001
|
NM_001384140.1(PCDH15):c.3074T>C (p.Leu1025Pro)
|
rs2088082400
|
0.00001
|
NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys)
|
rs780335938
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+1G>T
|
rs982893820
|
0.00001
|
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=)
|
rs776720353
|
0.00001
|
NM_001384140.1(PCDH15):c.3232+1G>A
|
rs1476947005
|
0.00001
|
NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=)
|
rs749666237
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr)
|
rs200748221
|
0.00001
|
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)
|
rs1200451014
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+13A>G
|
rs727503365
|
0.00001
|
NM_001384140.1(PCDH15):c.3501+7G>T
|
rs756402556
|
0.00001
|
NM_001384140.1(PCDH15):c.3502-7C>T
|
rs757876538
|
0.00001
|
NM_001384140.1(PCDH15):c.3522C>A (p.Gly1174=)
|
rs753725514
|
0.00001
|
NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg)
|
rs763978654
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-2A>G
|
rs1328440878
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00001
|
NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=)
|
rs765713345
|
0.00001
|
NM_001384140.1(PCDH15):c.3932A>G (p.Tyr1311Cys)
|
rs752031456
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
|
rs779165268
|
0.00001
|
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)
|
rs756490783
|
0.00001
|
NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg)
|
rs376146659
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)
|
rs765215862
|
0.00001
|
NM_001384140.1(PCDH15):c.4260C>T (p.Pro1420=)
|
rs775658931
|
0.00001
|
NM_001384140.1(PCDH15):c.4265C>G (p.Ala1422Gly)
|
rs772491935
|
0.00001
|
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
|
rs750591897
|
0.00001
|
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=)
|
rs949983423
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-1070T>A
|
rs886047054
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-1116G>C
|
rs571779869
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3205del
|
rs1554821197
|
0.00001
|
NM_001384140.1(PCDH15):c.4368-3207_4368-3204del
|
rs1554821194
|
0.00001
|
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter)
|
rs770416107
|
0.00001
|
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser)
|
rs727503368
|
0.00001
|
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser)
|
rs777886341
|
0.00001
|
NM_001384140.1(PCDH15):c.5106_5109dup (p.Ser1704Ter)
|
rs1198732380
|
0.00001
|
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter)
|
rs1554814611
|
0.00001
|
NM_001384140.1(PCDH15):c.526G>A (p.Ala176Thr)
|
rs758750902
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala)
|
rs773843633
|
0.00001
|
NM_001384140.1(PCDH15):c.907C>T (p.Pro303Ser)
|
rs1283485823
|
0.00001
|
NM_001384140.1(PCDH15):c.92-528C>T
|
rs190773725
|
0.00001
|
NM_001384140.1(PCDH15):c.925C>A (p.Gln309Lys)
|
rs762029000
|
0.00001
|
NM_002109.6(HARS1):c.1031C>A (p.Pro344Gln)
|
rs146571500
|
0.00001
|
NM_002109.6(HARS1):c.1069G>A (p.Val357Met)
|
rs1210579780
|
0.00001
|
NM_002109.6(HARS1):c.1092T>C (p.Asp364=)
|
rs758121959
|
0.00001
|
NM_002109.6(HARS1):c.1105A>G (p.Met369Val)
|
rs749991162
|
0.00001
|
NM_002109.6(HARS1):c.1106T>C (p.Met369Thr)
|
rs764631385
|
0.00001
|
NM_002109.6(HARS1):c.1118A>G (p.Lys373Arg)
|
rs759835894
|
0.00001
|
NM_002109.6(HARS1):c.1129G>T (p.Val377Leu)
|
rs1236403537
|
0.00001
|
NM_002109.6(HARS1):c.1143G>A (p.Gly381=)
|
rs776377712
|
0.00001
|
NM_002109.6(HARS1):c.1156G>A (p.Val386Met)
|
rs766493535
|
0.00001
|
NM_002109.6(HARS1):c.115C>T (p.Leu39=)
|
rs201729757
|
0.00001
|
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp)
|
rs761949872
|
0.00001
|
NM_002109.6(HARS1):c.1176C>T (p.Ile392=)
|
rs373400844
|
0.00001
|
NM_002109.6(HARS1):c.1177G>A (p.Val393Met)
|
rs192923161
|
0.00001
|
NM_002109.6(HARS1):c.1194+4G>A
|
rs370189312
|
0.00001
|
NM_002109.6(HARS1):c.1195-1G>A
|
rs1758289022
|
0.00001
|
NM_002109.6(HARS1):c.1195-21_1195-18del
|
rs1562001921
|
0.00001
|
NM_002109.6(HARS1):c.1201G>A (p.Glu401Lys)
|
rs552434037
|
0.00001
|
NM_002109.6(HARS1):c.1227A>C (p.Thr409=)
|
rs771913914
|
0.00001
|
NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter)
|
rs866572603
|
0.00001
|
NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu)
|
rs758941515
|
0.00001
|
NM_002109.6(HARS1):c.1311+19A>G
|
rs767418526
|
0.00001
|
NM_002109.6(HARS1):c.1311+4T>C
|
rs958234389
|
0.00001
|
NM_002109.6(HARS1):c.1323G>A (p.Leu441=)
|
rs1411849883
|
0.00001
|
NM_002109.6(HARS1):c.1328A>G (p.Lys443Arg)
|
rs1758262373
|
0.00001
|
NM_002109.6(HARS1):c.132G>A (p.Gln44=)
|
rs748645783
|
0.00001
|
NM_002109.6(HARS1):c.1356A>G (p.Leu452=)
|
rs1180487097
|
0.00001
|
NM_002109.6(HARS1):c.1387G>A (p.Val463Met)
|
rs139699964
|
0.00001
|
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)
|
rs754304255
|
0.00001
|
NM_002109.6(HARS1):c.1398C>T (p.Ile466=)
|
rs766088180
|
0.00001
|
NM_002109.6(HARS1):c.1407G>C (p.Gln469His)
|
rs1405966952
|
0.00001
|
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg)
|
rs1024985302
|
0.00001
|
NM_002109.6(HARS1):c.1436G>A (p.Arg479His)
|
rs746366104
|
0.00001
|
NM_002109.6(HARS1):c.143A>G (p.Asp48Gly)
|
rs1281545114
|
0.00001
|
NM_002109.6(HARS1):c.1490A>C (p.Glu497Ala)
|
rs1758219575
|
0.00001
|
NM_002109.6(HARS1):c.1512G>T (p.Gln504His)
|
rs368813043
|
0.00001
|
NM_002109.6(HARS1):c.1519T>C (p.Cys507Arg)
|
rs150090766
|
0.00001
|
NM_002109.6(HARS1):c.1519T>G (p.Cys507Gly)
|
rs150090766
|
0.00001
|
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)
|
rs1255236125
|
0.00001
|
NM_002109.6(HARS1):c.165G>A (p.Val55=)
|
rs780352804
|
0.00001
|
NM_002109.6(HARS1):c.174C>T (p.Thr58=)
|
rs761695061
|
0.00001
|
NM_002109.6(HARS1):c.17C>G (p.Ala6Gly)
|
rs1461976080
|
0.00001
|
NM_002109.6(HARS1):c.188G>A (p.Arg63Lys)
|
rs1758827286
|
0.00001
|
NM_002109.6(HARS1):c.189A>G (p.Arg63=)
|
rs1490820133
|
0.00001
|
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp)
|
rs757279674
|
0.00001
|
NM_002109.6(HARS1):c.205C>A (p.Gln69Lys)
|
rs906500515
|
0.00001
|
NM_002109.6(HARS1):c.207G>C (p.Gln69His)
|
rs1758823982
|
0.00001
|
NM_002109.6(HARS1):c.210G>A (p.Met70Ile)
|
rs763952844
|
0.00001
|
NM_002109.6(HARS1):c.217C>T (p.Arg73Cys)
|
rs752549829
|
0.00001
|
NM_002109.6(HARS1):c.228G>A (p.Val76=)
|
rs913287434
|
0.00001
|
NM_002109.6(HARS1):c.235G>A (p.Val79Ile)
|
rs1247876038
|
0.00001
|
NM_002109.6(HARS1):c.241A>T (p.Ile81Phe)
|
rs1758821449
|
0.00001
|
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys)
|
rs769340873
|
0.00001
|
NM_002109.6(HARS1):c.245G>A (p.Arg82His)
|
rs747494880
|
0.00001
|
NM_002109.6(HARS1):c.256C>T (p.Arg86Cys)
|
rs775758650
|
0.00001
|
NM_002109.6(HARS1):c.257G>A (p.Arg86His)
|
rs555242163
|
0.00001
|
NM_002109.6(HARS1):c.261C>T (p.His87=)
|
rs181930530
|
0.00001
|
NM_002109.6(HARS1):c.262G>A (p.Gly88Ser)
|
rs574448668
|
0.00001
|
NM_002109.6(HARS1):c.28C>T (p.Leu10=)
|
rs767785210
|
0.00001
|
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
|
rs1758818266
|
0.00001
|
NM_002109.6(HARS1):c.300+15A>G
|
rs1217420965
|
0.00001
|
NM_002109.6(HARS1):c.301-12T>C
|
rs1279149301
|
0.00001
|
NM_002109.6(HARS1):c.301-13A>G
|
rs370697844
|
0.00001
|
NM_002109.6(HARS1):c.307C>G (p.Leu103Val)
|
rs556459899
|
0.00001
|
NM_002109.6(HARS1):c.317A>G (p.Lys106Arg)
|
rs1281935760
|
0.00001
|
NM_002109.6(HARS1):c.335A>G (p.Lys112Arg)
|
rs746177150
|
0.00001
|
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg)
|
rs749493279
|
0.00001
|
NM_002109.6(HARS1):c.386A>G (p.Tyr129Cys)
|
rs781114051
|
0.00001
|
NM_002109.6(HARS1):c.39T>G (p.Leu13=)
|
rs1453807986
|
0.00001
|
NM_002109.6(HARS1):c.407C>T (p.Ala136Val)
|
rs1334234821
|
0.00001
|
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
|
rs1408800953
|
0.00001
|
NM_002109.6(HARS1):c.42G>A (p.Gln14=)
|
rs1338240772
|
0.00001
|
NM_002109.6(HARS1):c.431T>A (p.Leu144Gln)
|
rs1408195908
|
0.00001
|
NM_002109.6(HARS1):c.437A>G (p.Asn146Ser)
|
rs781115846
|
0.00001
|
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)
|
rs1394473077
|
0.00001
|
NM_002109.6(HARS1):c.493C>T (p.Arg165Cys)
|
rs760132903
|
0.00001
|
NM_002109.6(HARS1):c.500G>A (p.Arg167Gln)
|
rs766756604
|
0.00001
|
NM_002109.6(HARS1):c.501A>T (p.Arg167=)
|
rs763249148
|
0.00001
|
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln)
|
rs146922029
|
0.00001
|
NM_002109.6(HARS1):c.522+18G>A
|
rs745725598
|
0.00001
|
NM_002109.6(HARS1):c.522+1G>A
|
rs375271566
|
0.00001
|
NM_002109.6(HARS1):c.522+8T>C
|
rs1408058796
|
0.00001
|
NM_002109.6(HARS1):c.532A>G (p.Ile178Val)
|
rs774329929
|
0.00001
|
NM_002109.6(HARS1):c.553A>G (p.Met185Val)
|
rs1387154351
|
0.00001
|
NM_002109.6(HARS1):c.562G>C (p.Asp188His)
|
rs1758489449
|
0.00001
|
NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)
|
rs766547643
|
0.00001
|
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)
|
rs762976181
|
0.00001
|
NM_002109.6(HARS1):c.630+12C>T
|
rs760967356
|
0.00001
|
NM_002109.6(HARS1):c.631-8C>T
|
rs551153305
|
0.00001
|
NM_002109.6(HARS1):c.643C>T (p.Arg215Cys)
|
rs766298530
|
0.00001
|
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro)
|
rs762921085
|
0.00001
|
NM_002109.6(HARS1):c.695G>A (p.Arg232His)
|
rs550778711
|
0.00001
|
NM_002109.6(HARS1):c.697A>G (p.Thr233Ala)
|
rs1411041310
|
0.00001
|
NM_002109.6(HARS1):c.713T>C (p.Val238Ala)
|
rs536175170
|
0.00001
|
NM_002109.6(HARS1):c.726C>T (p.Asp242=)
|
rs1131035
|
0.00001
|
NM_002109.6(HARS1):c.728A>G (p.Lys243Arg)
|
rs1053173778
|
0.00001
|
NM_002109.6(HARS1):c.729+12A>G
|
rs756500012
|
0.00001
|
NM_002109.6(HARS1):c.729+3A>G
|
rs938453967
|
0.00001
|
NM_002109.6(HARS1):c.730-16G>T
|
rs749784586
|
0.00001
|
NM_002109.6(HARS1):c.749A>G (p.Lys250Arg)
|
rs1758445064
|
0.00001
|
NM_002109.6(HARS1):c.74A>G (p.Lys25Arg)
|
rs769640201
|
0.00001
|
NM_002109.6(HARS1):c.753T>C (p.Asn251=)
|
rs368073322
|
0.00001
|
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg)
|
rs1319398620
|
0.00001
|
NM_002109.6(HARS1):c.789G>A (p.Val263=)
|
rs780017796
|
0.00001
|
NM_002109.6(HARS1):c.796C>T (p.Arg266Cys)
|
rs575673293
|
0.00001
|
NM_002109.6(HARS1):c.811G>A (p.Val271Ile)
|
rs149018062
|
0.00001
|
NM_002109.6(HARS1):c.824-3C>T
|
rs753735411
|
0.00001
|
NM_002109.6(HARS1):c.829G>A (p.Val277Ile)
|
rs763899763
|
0.00001
|
NM_002109.6(HARS1):c.869C>G (p.Ser290Cys)
|
rs2481249694
|
0.00001
|
NM_002109.6(HARS1):c.880C>G (p.Gln294Glu)
|
rs1379178692
|
0.00001
|
NM_002109.6(HARS1):c.881A>C (p.Gln294Pro)
|
rs1758417980
|
0.00001
|
NM_002109.6(HARS1):c.898G>A (p.Gly300Arg)
|
rs2149823422
|
0.00001
|
NM_002109.6(HARS1):c.90+14A>C
|
rs779580751
|
0.00001
|
NM_002109.6(HARS1):c.90+16C>T
|
rs757866174
|
0.00001
|
NM_002109.6(HARS1):c.90+4A>C
|
rs776405841
|
0.00001
|
NM_002109.6(HARS1):c.907A>C (p.Lys303Gln)
|
rs774041144
|
0.00001
|
NM_002109.6(HARS1):c.91-13T>A
|
rs1759384277
|
0.00001
|
NM_002109.6(HARS1):c.913C>T (p.Leu305Phe)
|
rs1758415033
|
0.00001
|
NM_002109.6(HARS1):c.933A>G (p.Leu311=)
|
rs762443953
|
0.00001
|
NM_002109.6(HARS1):c.93C>G (p.Ile31Met)
|
rs768408406
|
0.00001
|
NM_002109.6(HARS1):c.951+12T>C
|
rs1416128366
|
0.00001
|
NM_002109.6(HARS1):c.951+8A>C
|
rs761161172
|
0.00001
|
NM_002109.6(HARS1):c.952-6C>T
|
rs568923460
|
0.00001
|
NM_002109.6(HARS1):c.965del (p.Leu322fs)
|
rs774824253
|
0.00001
|
NM_002109.6(HARS1):c.993C>T (p.Tyr331=)
|
rs749941698
|
0.00001
|
NM_002109.6(HARS1):c.994A>G (p.Thr332Ala)
|
rs1204082121
|
0.00001
|
NM_002778.4(PSAP):c.*238G>C
|
rs1174797357
|
0.00001
|
NM_005709.4(USH1C):c.1236C>T (p.Leu412=)
|
rs755834769
|
0.00001
|
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)
|
rs977658619
|
0.00001
|
NM_006044.4(HDAC6):c.1121C>G (p.Ala374Gly)
|
rs145223784
|
0.00001
|
NM_015404.4(WHRN):c.*126C>A
|
rs1834758281
|
0.00001
|
NM_015404.4(WHRN):c.*175C>T
|
rs1834755674
|
0.00001
|
NM_015404.4(WHRN):c.*37C>G
|
rs549195233
|
0.00001
|
NM_015404.4(WHRN):c.*51C>T
|
rs529176890
|
0.00001
|
NM_015404.4(WHRN):c.*554C>T
|
rs886063367
|
0.00001
|
NM_015404.4(WHRN):c.*613A>G
|
rs1042938459
|
0.00001
|
NM_015404.4(WHRN):c.-92C>T
|
rs1289815111
|
0.00001
|
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu)
|
rs759109990
|
0.00001
|
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg)
|
rs886063372
|
0.00001
|
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile)
|
rs373389359
|
0.00001
|
NM_015404.4(WHRN):c.1417-1G>A
|
rs779760634
|
0.00001
|
NM_015404.4(WHRN):c.1683C>T (p.Leu561=)
|
rs886063371
|
0.00001
|
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr)
|
rs750597763
|
0.00001
|
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr)
|
rs201690920
|
0.00001
|
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met)
|
rs751846994
|
0.00001
|
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu)
|
rs886063370
|
0.00001
|
NM_015404.4(WHRN):c.2419-5C>T
|
rs767910166
|
0.00001
|
NM_015404.4(WHRN):c.2453G>A (p.Arg818His)
|
rs762248099
|
0.00001
|
NM_015404.4(WHRN):c.2611A>G (p.Thr871Ala)
|
rs779001003
|
0.00001
|
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met)
|
rs140344596
|
0.00001
|
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)
|
rs138731082
|
0.00001
|
NM_015404.4(WHRN):c.684C>T (p.Tyr228=)
|
rs377363590
|
0.00001
|
NM_015404.4(WHRN):c.690C>T (p.Thr230=)
|
rs779112096
|
0.00001
|
NM_015404.4(WHRN):c.837+5G>C
|
rs201863779
|
0.00001
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
NM_022124.6(CDH23):c.*1C>G
|
rs768199443
|
0.00001
|
NM_022124.6(CDH23):c.*247C>T
|
rs1209398908
|
0.00001
|
NM_022124.6(CDH23):c.*408G>A
|
rs376837903
|
0.00001
|
NM_022124.6(CDH23):c.*439C>T
|
rs140312023
|
0.00001
|
NM_022124.6(CDH23):c.*509C>T
|
rs763532469
|
0.00001
|
NM_022124.6(CDH23):c.-185G>C
|
rs545081281
|
0.00001
|
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro)
|
rs746750273
|
0.00001
|
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met)
|
rs756425157
|
0.00001
|
NM_022124.6(CDH23):c.1141-12C>T
|
rs769964522
|
0.00001
|
NM_022124.6(CDH23):c.1276C>T (p.Arg426Cys)
|
rs373674747
|
0.00001
|
NM_022124.6(CDH23):c.1281C>T (p.Tyr427=)
|
rs1349593079
|
0.00001
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)
|
rs767345324
|
0.00001
|
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile)
|
rs1862880669
|
0.00001
|
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu)
|
rs397517308
|
0.00001
|
NM_022124.6(CDH23):c.1502A>G (p.Asp501Gly)
|
rs763437495
|
0.00001
|
NM_022124.6(CDH23):c.1516T>C (p.Phe506Leu)
|
rs1864419966
|
0.00001
|
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
|
rs775202656
|
0.00001
|
NM_022124.6(CDH23):c.1583G>A (p.Arg528His)
|
rs761468283
|
0.00001
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013
|
0.00001
|
NM_022124.6(CDH23):c.1652T>G (p.Val551Gly)
|
rs1251632622
|
0.00001
|
NM_022124.6(CDH23):c.1660G>A (p.Val554Ile)
|
rs727504910
|
0.00001
|
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn)
|
rs374014052
|
0.00001
|
NM_022124.6(CDH23):c.1678A>G (p.Thr560Ala)
|
rs767986806
|
0.00001
|
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg)
|
rs397517311
|
0.00001
|
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala)
|
rs1864515873
|
0.00001
|
NM_022124.6(CDH23):c.1766A>T (p.Asp589Val)
|
rs753165881
|
0.00001
|
NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly)
|
rs763577236
|
0.00001
|
NM_022124.6(CDH23):c.1859T>C (p.Val620Ala)
|
rs775889210
|
0.00001
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
NM_022124.6(CDH23):c.190C>T (p.Pro64Ser)
|
rs1297166820
|
0.00001
|
NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser)
|
rs1304555485
|
0.00001
|
NM_022124.6(CDH23):c.2059+10C>T
|
rs748415078
|
0.00001
|
NM_022124.6(CDH23):c.208T>G (p.Ser70Ala)
|
rs1853877616
|
0.00001
|
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp)
|
rs528779319
|
0.00001
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
NM_022124.6(CDH23):c.2125A>G (p.Ile709Val)
|
rs754027345
|
0.00001
|
NM_022124.6(CDH23):c.2156T>C (p.Phe719Ser)
|
rs1212886069
|
0.00001
|
NM_022124.6(CDH23):c.2170C>G (p.Arg724Gly)
|
rs769571318
|
0.00001
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
NM_022124.6(CDH23):c.2283C>T (p.Ile761=)
|
rs267602568
|
0.00001
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
NM_022124.6(CDH23):c.2310C>T (p.Asp770=)
|
rs886047131
|
0.00001
|
NM_022124.6(CDH23):c.234T>G (p.Phe78Leu)
|
rs562521392
|
0.00001
|
NM_022124.6(CDH23):c.2398-1G>T
|
rs751788879
|
0.00001
|
NM_022124.6(CDH23):c.2525G>A (p.Arg842Gln)
|
rs753068359
|
0.00001
|
NM_022124.6(CDH23):c.2561G>A (p.Arg854His)
|
rs1283888780
|
0.00001
|
NM_022124.6(CDH23):c.2591G>T (p.Gly864Val)
|
rs1317670560
|
0.00001
|
NM_022124.6(CDH23):c.259G>T (p.Val87Leu)
|
rs759917997
|
0.00001
|
NM_022124.6(CDH23):c.268C>T (p.Arg90Trp)
|
rs1064794990
|
0.00001
|
NM_022124.6(CDH23):c.2692G>A (p.Glu898Lys)
|
rs1013565672
|
0.00001
|
NM_022124.6(CDH23):c.2715G>A (p.Ala905=)
|
rs759903345
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys)
|
rs775017408
|
0.00001
|
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser)
|
rs373305209
|
0.00001
|
NM_022124.6(CDH23):c.2803C>T (p.Arg935Cys)
|
rs758451585
|
0.00001
|
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser)
|
rs760043975
|
0.00001
|
NM_022124.6(CDH23):c.2836G>A (p.Val946Met)
|
rs931850625
|
0.00001
|
NM_022124.6(CDH23):c.2840T>A (p.Val947Glu)
|
rs397517318
|
0.00001
|
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
|
rs2132740122
|
0.00001
|
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
|
rs377425731
|
0.00001
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
NM_022124.6(CDH23):c.2890C>T (p.Arg964Trp)
|
rs768031780
|
0.00001
|
NM_022124.6(CDH23):c.28C>T (p.His10Tyr)
|
rs971142356
|
0.00001
|
NM_022124.6(CDH23):c.2952T>C (p.His984=)
|
rs1564744738
|
0.00001
|
NM_022124.6(CDH23):c.2953+10C>T
|
rs781572688
|
0.00001
|
NM_022124.6(CDH23):c.2954-2A>G
|
rs1865810132
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met)
|
rs765270590
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.3035T>C (p.Phe1012Ser)
|
rs774623499
|
0.00001
|
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=)
|
rs778344637
|
0.00001
|
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr)
|
rs397517320
|
0.00001
|
NM_022124.6(CDH23):c.3143G>A (p.Arg1048His)
|
rs747839724
|
0.00001
|
NM_022124.6(CDH23):c.3163G>A (p.Val1055Met)
|
rs747028795
|
0.00001
|
NM_022124.6(CDH23):c.3221-7C>T
|
rs776427467
|
0.00001
|
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)
|
rs866435331
|
0.00001
|
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr)
|
rs369002480
|
0.00001
|
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly)
|
rs757508152
|
0.00001
|
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln)
|
rs397517322
|
0.00001
|
NM_022124.6(CDH23):c.3428dup (p.His1143fs)
|
rs1253419936
|
0.00001
|
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp)
|
rs754128851
|
0.00001
|
NM_022124.6(CDH23):c.3467A>G (p.Asn1156Ser)
|
rs375367387
|
0.00001
|
NM_022124.6(CDH23):c.3493C>T (p.Pro1165Ser)
|
rs373622821
|
0.00001
|
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln)
|
rs727502925
|
0.00001
|
NM_022124.6(CDH23):c.3522C>T (p.His1174=)
|
rs750705577
|
0.00001
|
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn)
|
rs780886093
|
0.00001
|
NM_022124.6(CDH23):c.3579+3G>A
|
rs761976651
|
0.00001
|
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)
|
rs759990271
|
0.00001
|
NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys)
|
rs775540526
|
0.00001
|
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys)
|
rs111033468
|
0.00001
|
NM_022124.6(CDH23):c.4011C>A (p.Ala1337=)
|
rs761003107
|
0.00001
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
0.00001
|
NM_022124.6(CDH23):c.4054G>A (p.Ala1352Thr)
|
rs773262846
|
0.00001
|
NM_022124.6(CDH23):c.4070A>G (p.Gln1357Arg)
|
rs1038949759
|
0.00001
|
NM_022124.6(CDH23):c.4096G>A (p.Ala1366Thr)
|
rs1166886985
|
0.00001
|
NM_022124.6(CDH23):c.4105-2A>T
|
rs1416386069
|
0.00001
|
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=)
|
rs369188108
|
0.00001
|
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn)
|
rs752442832
|
0.00001
|
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=)
|
rs571668370
|
0.00001
|
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg)
|
rs1438134577
|
0.00001
|
NM_022124.6(CDH23):c.4206+1G>A
|
rs1204500829
|
0.00001
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034
|
0.00001
|
NM_022124.6(CDH23):c.4231G>A (p.Glu1411Lys)
|
rs375057273
|
0.00001
|
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg)
|
rs747673739
|
0.00001
|
NM_022124.6(CDH23):c.4359G>C (p.Gln1453His)
|
rs1435336806
|
0.00001
|
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=)
|
rs554295504
|
0.00001
|
NM_022124.6(CDH23):c.4427T>C (p.Ile1476Thr)
|
rs1197884550
|
0.00001
|
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp)
|
rs760927863
|
0.00001
|
NM_022124.6(CDH23):c.4536C>A (p.Ile1512=)
|
rs191759543
|
0.00001
|
NM_022124.6(CDH23):c.4663C>T (p.Arg1555Cys)
|
rs773842427
|
0.00001
|
NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser)
|
rs727504606
|
0.00001
|
NM_022124.6(CDH23):c.4729C>T (p.Arg1577Cys)
|
rs893684931
|
0.00001
|
NM_022124.6(CDH23):c.4730G>A (p.Arg1577His)
|
rs771464282
|
0.00001
|
NM_022124.6(CDH23):c.4739G>A (p.Arg1580His)
|
rs747067009
|
0.00001
|
NM_022124.6(CDH23):c.4746C>T (p.Ser1582=)
|
rs370132610
|
0.00001
|
NM_022124.6(CDH23):c.4781G>A (p.Arg1594His)
|
rs368368136
|
0.00001
|
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)
|
rs1057519500
|
0.00001
|
NM_022124.6(CDH23):c.4793G>A (p.Ser1598Asn)
|
rs1268713495
|
0.00001
|
NM_022124.6(CDH23):c.4873G>A (p.Val1625Met)
|
rs1180197801
|
0.00001
|
NM_022124.6(CDH23):c.4884T>C (p.Asn1628=)
|
rs777745599
|
0.00001
|
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val)
|
rs769888766
|
0.00001
|
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp)
|
rs1465588529
|
0.00001
|
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
|
rs764025875
|
0.00001
|
NM_022124.6(CDH23):c.5112C>T (p.His1704=)
|
rs774919846
|
0.00001
|
NM_022124.6(CDH23):c.5132T>C (p.Val1711Ala)
|
rs762613557
|
0.00001
|
NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala)
|
rs762005355
|
0.00001
|
NM_022124.6(CDH23):c.5186C>T (p.Thr1729Met)
|
rs545173038
|
0.00001
|
NM_022124.6(CDH23):c.5187+4G>A
|
rs752015536
|
0.00001
|
NM_022124.6(CDH23):c.523T>C (p.Ser175Pro)
|
rs756340333
|
0.00001
|
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys)
|
rs759706770
|
0.00001
|
NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn)
|
rs397517338
|
0.00001
|
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=)
|
rs749913488
|
0.00001
|
NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp)
|
rs145951744
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022124.6(CDH23):c.5611G>A (p.Ala1871Thr)
|
rs766404226
|
0.00001
|
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn)
|
rs983665281
|
0.00001
|
NM_022124.6(CDH23):c.5676G>A (p.Ala1892=)
|
rs774305066
|
0.00001
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
NM_022124.6(CDH23):c.5719A>T (p.Ile1907Phe)
|
rs755582881
|
0.00001
|
NM_022124.6(CDH23):c.5743G>A (p.Asp1915Asn)
|
rs772117059
|
0.00001
|
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val)
|
rs1299758893
|
0.00001
|
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=)
|
rs762382800
|
0.00001
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=)
|
rs542473653
|
0.00001
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00001
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
0.00001
|
NM_022124.6(CDH23):c.6227T>C (p.Val2076Ala)
|
rs773607597
|
0.00001
|
NM_022124.6(CDH23):c.6253+5G>A
|
rs1748135455
|
0.00001
|
NM_022124.6(CDH23):c.6292A>G (p.Ser2098Gly)
|
rs375699270
|
0.00001
|
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)
|
rs1198525214
|
0.00001
|
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=)
|
rs368155422
|
0.00001
|
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter)
|
rs771210121
|
0.00001
|
NM_022124.6(CDH23):c.6340G>A (p.Asp2114Asn)
|
rs977083222
|
0.00001
|
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg)
|
rs727504894
|
0.00001
|
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)
|
rs2132954257
|
0.00001
|
NM_022124.6(CDH23):c.65G>A (p.Trp22Ter)
|
rs1431027601
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.662A>C (p.Asn221Thr)
|
rs766721575
|
0.00001
|
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys)
|
rs761082272
|
0.00001
|
NM_022124.6(CDH23):c.6680A>C (p.Gln2227Pro)
|
rs778453484
|
0.00001
|
NM_022124.6(CDH23):c.6689C>G (p.Ala2230Gly)
|
rs779637927
|
0.00001
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser)
|
rs545514111
|
0.00001
|
NM_022124.6(CDH23):c.6712+1G>A
|
rs1554874900
|
0.00001
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
NM_022124.6(CDH23):c.6856G>A (p.Val2286Ile)
|
rs548373542
|
0.00001
|
NM_022124.6(CDH23):c.6959C>T (p.Ala2320Val)
|
rs748864889
|
0.00001
|
NM_022124.6(CDH23):c.6980T>A (p.Leu2327His)
|
rs995094571
|
0.00001
|
NM_022124.6(CDH23):c.7055-15G>A
|
rs371872394
|
0.00001
|
NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=)
|
rs1287792582
|
0.00001
|
NM_022124.6(CDH23):c.7087G>A (p.Glu2363Lys)
|
rs753690054
|
0.00001
|
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly)
|
rs758727384
|
0.00001
|
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=)
|
rs369805384
|
0.00001
|
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg)
|
rs181197242
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
NM_022124.6(CDH23):c.7245G>A (p.Val2415=)
|
rs751865337
|
0.00001
|
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs)
|
rs1841497902
|
0.00001
|
NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys)
|
rs1264310782
|
0.00001
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
0.00001
|
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe)
|
rs373823262
|
0.00001
|
NM_022124.6(CDH23):c.7399A>G (p.Lys2467Glu)
|
rs762446057
|
0.00001
|
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln)
|
rs727502932
|
0.00001
|
NM_022124.6(CDH23):c.7581G>A (p.Ser2527=)
|
rs751607601
|
0.00001
|
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His)
|
rs886047141
|
0.00001
|
NM_022124.6(CDH23):c.7723G>A (p.Glu2575Lys)
|
rs762925264
|
0.00001
|
NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter)
|
rs397517353
|
0.00001
|
NM_022124.6(CDH23):c.7834G>T (p.Val2612Leu)
|
rs1274482381
|
0.00001
|
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
|
rs1292050472
|
0.00001
|
NM_022124.6(CDH23):c.7893C>T (p.Asn2631=)
|
rs377121007
|
0.00001
|
NM_022124.6(CDH23):c.789G>A (p.Gln263=)
|
rs772466142
|
0.00001
|
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)
|
rs936479651
|
0.00001
|
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=)
|
rs767480784
|
0.00001
|
NM_022124.6(CDH23):c.8113A>G (p.Met2705Val)
|
rs747249307
|
0.00001
|
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
|
rs2494433582
|
0.00001
|
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr)
|
rs397517356
|
0.00001
|
NM_022124.6(CDH23):c.8282A>G (p.Asn2761Ser)
|
rs779835256
|
0.00001
|
NM_022124.6(CDH23):c.8317G>A (p.Glu2773Lys)
|
rs765697060
|
0.00001
|
NM_022124.6(CDH23):c.8383C>T (p.Arg2795Ter)
|
rs768834772
|
0.00001
|
NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val)
|
rs766924822
|
0.00001
|
NM_022124.6(CDH23):c.8406C>T (p.Ile2802=)
|
rs752125151
|
0.00001
|
NM_022124.6(CDH23):c.8425C>T (p.Arg2809Cys)
|
rs777428282
|
0.00001
|
NM_022124.6(CDH23):c.8443C>T (p.Arg2815Cys)
|
rs768583951
|
0.00001
|
NM_022124.6(CDH23):c.8463C>T (p.Leu2821=)
|
rs1235419354
|
0.00001
|
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn)
|
rs397517361
|
0.00001
|
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys)
|
rs185818081
|
0.00001
|
NM_022124.6(CDH23):c.874G>A (p.Val292Met)
|
rs1437430893
|
0.00001
|
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)
|
rs1190307769
|
0.00001
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00001
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
NM_022124.6(CDH23):c.8979+13C>T
|
rs886047142
|
0.00001
|
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met)
|
rs1294837134
|
0.00001
|
NM_022124.6(CDH23):c.8G>A (p.Arg3His)
|
rs397517363
|
0.00001
|
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp)
|
rs397517364
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_022124.6(CDH23):c.9070G>A (p.Val3024Met)
|
rs370087572
|
0.00001
|
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)
|
rs368603948
|
0.00001
|
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=)
|
rs768198017
|
0.00001
|
NM_022124.6(CDH23):c.9185T>C (p.Met3062Thr)
|
rs770888523
|
0.00001
|
NM_022124.6(CDH23):c.9198+7G>A
|
rs761980521
|
0.00001
|
NM_022124.6(CDH23):c.9234G>A (p.Leu3078=)
|
rs952277066
|
0.00001
|
NM_022124.6(CDH23):c.9237C>T (p.Ala3079=)
|
rs753289128
|
0.00001
|
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His)
|
rs1157786977
|
0.00001
|
NM_022124.6(CDH23):c.9349A>G (p.Met3117Val)
|
rs1041158603
|
0.00001
|
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His)
|
rs754557923
|
0.00001
|
NM_022124.6(CDH23):c.9538G>A (p.Val3180Ile)
|
rs557490269
|
0.00001
|
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe)
|
rs557490269
|
0.00001
|
NM_022124.6(CDH23):c.960C>T (p.Asn320=)
|
rs756644736
|
0.00001
|
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp)
|
rs1434063011
|
0.00001
|
NM_022124.6(CDH23):c.9775C>T (p.His3259Tyr)
|
rs1064795569
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_022124.6(CDH23):c.9870C>A (p.Gly3290=)
|
rs370265254
|
0.00001
|
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn)
|
rs372388344
|
0.00001
|
NM_022124.6(CDH23):c.997A>T (p.Thr333Ser)
|
rs371005464
|
0.00001
|
NM_022124.6(CDH23):c.9980C>T (p.Ala3327Val)
|
rs1393090121
|
0.00001
|
NM_032119.4(ADGRV1):c.*270C>A
|
rs1415320521
|
0.00001
|
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=)
|
rs1325751815
|
0.00001
|
NM_032119.4(ADGRV1):c.10440A>T (p.Ser3480=)
|
rs781252270
|
0.00001
|
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu)
|
rs780372483
|
0.00001
|
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)
|
rs765574676
|
0.00001
|
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly)
|
rs771934458
|
0.00001
|
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
|
rs375025827
|
0.00001
|
NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter)
|
rs767570081
|
0.00001
|
NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=)
|
rs1312477726
|
0.00001
|
NM_032119.4(ADGRV1):c.12184C>T (p.Arg4062Trp)
|
rs775426944
|
0.00001
|
NM_032119.4(ADGRV1):c.12211C>T (p.Arg4071Ter)
|
rs1163308590
|
0.00001
|
NM_032119.4(ADGRV1):c.12425G>A (p.Arg4142Gln)
|
rs1047782967
|
0.00001
|
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=)
|
rs727503080
|
0.00001
|
NM_032119.4(ADGRV1):c.1252A>G (p.Thr418Ala)
|
rs749595916
|
0.00001
|
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter)
|
rs727504777
|
0.00001
|
NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter)
|
rs1758506826
|
0.00001
|
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp)
|
rs765063390
|
0.00001
|
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=)
|
rs368497021
|
0.00001
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867
|
0.00001
|
NM_032119.4(ADGRV1):c.13544G>A (p.Gly4515Glu)
|
rs576466976
|
0.00001
|
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)
|
rs765376986
|
0.00001
|
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)
|
rs754162988
|
0.00001
|
NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe)
|
rs766619723
|
0.00001
|
NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu)
|
rs771484121
|
0.00001
|
NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter)
|
rs1474343714
|
0.00001
|
NM_032119.4(ADGRV1):c.14404C>T (p.Arg4802Ter)
|
rs1236715896
|
0.00001
|
NM_032119.4(ADGRV1):c.14546C>G (p.Thr4849Ser)
|
rs755079950
|
0.00001
|
NM_032119.4(ADGRV1):c.1493T>A (p.Val498Glu)
|
rs779083717
|
0.00001
|
NM_032119.4(ADGRV1):c.14971C>T (p.Arg4991Ter)
|
rs1233334494
|
0.00001
|
NM_032119.4(ADGRV1):c.14972+1G>T
|
rs780011571
|
0.00001
|
NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=)
|
rs745385503
|
0.00001
|
NM_032119.4(ADGRV1):c.15560C>T (p.Ala5187Val)
|
rs758664211
|
0.00001
|
NM_032119.4(ADGRV1):c.15583C>T (p.Leu5195Phe)
|
rs1460870267
|
0.00001
|
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val)
|
rs937520838
|
0.00001
|
NM_032119.4(ADGRV1):c.15899C>G (p.Thr5300Ser)
|
rs754346307
|
0.00001
|
NM_032119.4(ADGRV1):c.16450G>A (p.Ala5484Thr)
|
rs576727094
|
0.00001
|
NM_032119.4(ADGRV1):c.1707A>C (p.Gln569His)
|
rs1765206666
|
0.00001
|
NM_032119.4(ADGRV1):c.17204+12T>C
|
rs1766179569
|
0.00001
|
NM_032119.4(ADGRV1):c.17455-2A>T
|
rs1279862720
|
0.00001
|
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
|
rs1271107459
|
0.00001
|
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=)
|
rs766197164
|
0.00001
|
NM_032119.4(ADGRV1):c.18515A>G (p.Asn6172Ser)
|
rs774995411
|
0.00001
|
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=)
|
rs1458060011
|
0.00001
|
NM_032119.4(ADGRV1):c.18610G>A (p.Gly6204Ser)
|
rs745735875
|
0.00001
|
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro)
|
rs756976267
|
0.00001
|
NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=)
|
rs749201239
|
0.00001
|
NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val)
|
rs1463493906
|
0.00001
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=)
|
rs1486650258
|
0.00001
|
NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=)
|
rs746915145
|
0.00001
|
NM_032119.4(ADGRV1):c.2539G>A (p.Asp847Asn)
|
rs1487161620
|
0.00001
|
NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr)
|
rs780130028
|
0.00001
|
NM_032119.4(ADGRV1):c.2848G>C (p.Gly950Arg)
|
rs569112173
|
0.00001
|
NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=)
|
rs753443586
|
0.00001
|
NM_032119.4(ADGRV1):c.3185T>C (p.Ile1062Thr)
|
rs1018814935
|
0.00001
|
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp)
|
rs750334086
|
0.00001
|
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr)
|
rs761253411
|
0.00001
|
NM_032119.4(ADGRV1):c.3416+7A>G
|
rs770255299
|
0.00001
|
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His)
|
rs779520200
|
0.00001
|
NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala)
|
rs776663458
|
0.00001
|
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=)
|
rs1175349754
|
0.00001
|
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val)
|
rs1561464218
|
0.00001
|
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp)
|
rs794727329
|
0.00001
|
NM_032119.4(ADGRV1):c.4378+11T>C
|
rs1225844494
|
0.00001
|
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser)
|
rs1303930496
|
0.00001
|
NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly)
|
rs773201854
|
0.00001
|
NM_032119.4(ADGRV1):c.5266G>A (p.Glu1756Lys)
|
rs1027911338
|
0.00001
|
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys)
|
rs367621359
|
0.00001
|
NM_032119.4(ADGRV1):c.6062T>C (p.Met2021Thr)
|
rs1745278727
|
0.00001
|
NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe)
|
rs529727564
|
0.00001
|
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val)
|
rs371849392
|
0.00001
|
NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met)
|
rs144723817
|
0.00001
|
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu)
|
rs777260815
|
0.00001
|
NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser)
|
rs373807911
|
0.00001
|
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)
|
rs758718347
|
0.00001
|
NM_032119.4(ADGRV1):c.7264C>T (p.Leu2422Phe)
|
rs748779747
|
0.00001
|
NM_032119.4(ADGRV1):c.7334A>G (p.Lys2445Arg)
|
rs762036043
|
0.00001
|
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile)
|
rs1746861436
|
0.00001
|
NM_032119.4(ADGRV1):c.7464G>C (p.Arg2488Ser)
|
rs766683035
|
0.00001
|
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr)
|
rs1229881653
|
0.00001
|
NM_032119.4(ADGRV1):c.777T>C (p.Asn259=)
|
rs775845081
|
0.00001
|
NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=)
|
rs756284324
|
0.00001
|
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala)
|
rs765530046
|
0.00001
|
NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=)
|
rs1026514423
|
0.00001
|
NM_032119.4(ADGRV1):c.8287-1G>C
|
rs1359811582
|
0.00001
|
NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val)
|
rs768539100
|
0.00001
|
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)
|
rs759038879
|
0.00001
|
NM_032119.4(ADGRV1):c.9314G>A (p.Arg3105Gln)
|
rs762116905
|
0.00001
|
NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter)
|
rs769681955
|
0.00001
|
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr)
|
rs779442763
|
0.00001
|
NM_032119.4(ADGRV1):c.9623+1G>A
|
rs749982150
|
0.00001
|
NM_032119.4(ADGRV1):c.9749-2del
|
rs1751549898
|
0.00001
|
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=)
|
rs1051488396
|
0.00001
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
NM_032119.4(ADGRV1):c.9992A>G (p.Asn3331Ser)
|
rs757644038
|
0.00001
|
NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg)
|
rs781324011
|
0.00001
|
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs)
|
rs767621707
|
0.00001
|
NM_033056.4(PCDH15):c.4486G>A (p.Ala1496Thr)
|
rs1415736170
|
0.00001
|
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=)
|
rs200141161
|
0.00001
|
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer)
|
rs746017823
|
0.00001
|
NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn)
|
rs768952458
|
0.00001
|
NM_033056.4(PCDH15):c.4575T>C (p.His1525=)
|
rs746377416
|
0.00001
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
NM_033056.4(PCDH15):c.4736G>A (p.Ser1579Asn)
|
rs1434959194
|
0.00001
|
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=)
|
rs372095792
|
0.00001
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00001
|
NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs)
|
rs748611625
|
0.00001
|
NM_033056.4(PCDH15):c.4937_4940dup (p.Glu1648fs)
|
rs764162842
|
0.00001
|
NM_033056.4(PCDH15):c.5028T>A (p.Thr1676=)
|
rs775752587
|
0.00001
|
NM_033056.4(PCDH15):c.5210C>T (p.Pro1737Leu)
|
rs1339913420
|
0.00001
|
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met)
|
rs886047061
|
0.00001
|
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu)
|
rs1268531021
|
0.00001
|
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser)
|
rs775203432
|
0.00001
|
NM_033056.4(PCDH15):c.5597C>G (p.Ser1866Ter)
|
rs2076312170
|
0.00001
|
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala)
|
rs1420803454
|
0.00001
|
NM_033056.4(PCDH15):c.5655C>T (p.His1885=)
|
rs758953502
|
0.00001
|
NM_033056.4(PCDH15):c.5683T>C (p.Ser1895Pro)
|
rs759950014
|
0.00001
|
NM_033056.4(PCDH15):c.5690C>G (p.Ala1897Gly)
|
rs774976789
|
0.00001
|
NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly)
|
rs763251067
|
0.00001
|
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)
|
rs1457208099
|
0.00001
|
NM_033056.4(PCDH15):c.5847C>G (p.His1949Gln)
|
rs778841983
|
0.00001
|
NM_153676.4(USH1C):c.*131G>C
|
rs550402400
|
0.00001
|
NM_153676.4(USH1C):c.*140C>T
|
rs886048058
|
0.00001
|
NM_153676.4(USH1C):c.-109A>T
|
rs556793498
|
0.00001
|
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln)
|
rs765571023
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691
|
0.00001
|
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
|
rs746789590
|
0.00001
|
NM_153676.4(USH1C):c.1101A>G (p.Glu367=)
|
rs764975771
|
0.00001
|
NM_153676.4(USH1C):c.1210+5G>A
|
rs372285784
|
0.00001
|
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)
|
rs1406224812
|
0.00001
|
NM_153676.4(USH1C):c.1413+2T>C
|
rs1344670523
|
0.00001
|
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp)
|
rs868001349
|
0.00001
|
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser)
|
rs775363189
|
0.00001
|
NM_153676.4(USH1C):c.1531-11A>G
|
rs397517872
|
0.00001
|
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)
|
rs778703128
|
0.00001
|
NM_153676.4(USH1C):c.164G>A (p.Arg55His)
|
rs1042393529
|
0.00001
|
NM_153676.4(USH1C):c.1824del (p.Pro609fs)
|
rs1389725640
|
0.00001
|
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val)
|
rs727505187
|
0.00001
|
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp)
|
rs375741564
|
0.00001
|
NM_153676.4(USH1C):c.192G>A (p.Pro64=)
|
rs1040470628
|
0.00001
|
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro)
|
rs1186965957
|
0.00001
|
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)
|
rs369369849
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2270G>A (p.Arg757His)
|
rs753703742
|
0.00001
|
NM_153676.4(USH1C):c.2280+15G>A
|
rs886048059
|
0.00001
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529
|
0.00001
|
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe)
|
rs140313023
|
0.00001
|
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser)
|
rs727505083
|
0.00001
|
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe)
|
rs1309991987
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.2378A>G (p.His793Arg)
|
rs868121889
|
0.00001
|
NM_153676.4(USH1C):c.2400C>T (p.Asp800=)
|
rs139787873
|
0.00001
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
0.00001
|
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)
|
rs1849309216
|
0.00001
|
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)
|
rs397517878
|
0.00001
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
0.00001
|
NM_153676.4(USH1C):c.2490+6A>C
|
rs1456998238
|
0.00001
|
NM_153676.4(USH1C):c.2541T>C (p.Asp847=)
|
rs1849262183
|
0.00001
|
NM_153676.4(USH1C):c.2547-1G>T
|
rs571304936
|
0.00001
|
NM_153676.4(USH1C):c.2656-1G>A
|
rs747133793
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr)
|
rs767655370
|
0.00001
|
NM_153676.4(USH1C):c.387+1G>A
|
rs1850950786
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys)
|
rs747960087
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_153676.4(USH1C):c.497-3C>A
|
rs958295779
|
0.00001
|
NM_153676.4(USH1C):c.501C>T (p.Ile167=)
|
rs1382747364
|
0.00001
|
NM_153676.4(USH1C):c.538C>G (p.Leu180Val)
|
rs747331051
|
0.00001
|
NM_153676.4(USH1C):c.582C>T (p.Gly194=)
|
rs397517882
|
0.00001
|
NM_153676.4(USH1C):c.600C>T (p.Gly200=)
|
rs748975874
|
0.00001
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934
|
0.00001
|
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter)
|
rs766327614
|
0.00001
|
NM_153676.4(USH1C):c.66G>A (p.Glu22=)
|
rs768165881
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
|
rs267602805
|
0.00001
|
NM_153676.4(USH1C):c.789C>G (p.Gly263=)
|
rs376197674
|
0.00001
|
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln)
|
rs756485601
|
0.00001
|
NM_153676.4(USH1C):c.870T>A (p.Ala290=)
|
rs765955209
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln)
|
rs773481791
|
0.00001
|
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys)
|
rs200127622
|
0.00001
|
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp)
|
rs749821587
|
0.00001
|
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln)
|
rs397517884
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
|
rs763948115
|
0.00001
|
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys)
|
rs760448018
|
0.00001
|
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)
|
rs776511246
|
0.00001
|
NM_153676.4(USH1C):c.952C>A (p.Leu318Ile)
|
rs1392006029
|
0.00001
|
NM_173477.5(USH1G):c.*1376G>A
|
rs1208854492
|
0.00001
|
NM_173477.5(USH1G):c.*1719G>T
|
rs886053384
|
0.00001
|
NM_173477.5(USH1G):c.*704G>A
|
rs1032315413
|
0.00001
|
NM_173477.5(USH1G):c.*95C>G
|
rs886053388
|
0.00001
|
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)
|
rs104894652
|
0.00001
|
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)
|
rs397517925
|
0.00001
|
NM_173477.5(USH1G):c.164+5G>A
|
rs1337840598
|
0.00001
|
NM_173477.5(USH1G):c.22G>C (p.Ala8Pro)
|
rs779198694
|
0.00001
|
NM_173477.5(USH1G):c.344G>A (p.Arg115His)
|
rs775117744
|
0.00001
|
NM_173477.5(USH1G):c.436C>T (p.Arg146Cys)
|
rs141791769
|
0.00001
|
NM_173477.5(USH1G):c.474C>G (p.His158Gln)
|
rs765860407
|
0.00001
|
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
|
rs201866631
|
0.00001
|
NM_174878.3(CLRN1):c.*537T>C
|
rs1712862411
|
0.00001
|
NM_174878.3(CLRN1):c.*815T>C
|
rs1397342628
|
0.00001
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)
|
rs1380661508
|
0.00001
|
NM_174878.3(CLRN1):c.253+1G>A
|
rs1329440649
|
0.00001
|
NM_174878.3(CLRN1):c.254-2057T>C
|
rs778574679
|
0.00001
|
NM_174878.3(CLRN1):c.254-2082T>G
|
rs963890618
|
0.00001
|
NM_174878.3(CLRN1):c.254-2111del
|
rs1211060908
|
0.00001
|
NM_174878.3(CLRN1):c.270C>G (p.Leu90=)
|
rs143232961
|
0.00001
|
NM_174878.3(CLRN1):c.291C>T (p.Ile97=)
|
rs1231233910
|
0.00001
|
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)
|
rs1553776135
|
0.00001
|
NM_174878.3(CLRN1):c.336C>G (p.Thr112=)
|
rs565400473
|
0.00001
|
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg)
|
rs904836940
|
0.00001
|
NM_174878.3(CLRN1):c.411G>A (p.Leu137=)
|
rs1713844994
|
0.00001
|
NM_174878.3(CLRN1):c.433+10A>G
|
rs752878216
|
0.00001
|
NM_174878.3(CLRN1):c.433+1G>A
|
rs201205811
|
0.00001
|
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp)
|
rs775098953
|
0.00001
|
NM_174878.3(CLRN1):c.473A>G (p.Glu158Gly)
|
rs369185342
|
0.00001
|
NM_174878.3(CLRN1):c.502A>T (p.Ile168Phe)
|
rs780412161
|
0.00001
|
NM_174878.3(CLRN1):c.529G>A (p.Val177Ile)
|
rs753739519
|
0.00001
|
NM_174878.3(CLRN1):c.540G>A (p.Thr180=)
|
rs774615126
|
0.00001
|
NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys)
|
rs746128095
|
0.00001
|
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)
|
rs373208120
|
0.00001
|
NM_174878.3(CLRN1):c.92C>G (p.Pro31Arg)
|
rs374390376
|
0.00001
|
NM_206933.4(USH2A):c.-204-15G>A
|
rs1162064882
|
0.00001
|
NM_206933.4(USH2A):c.-229C>T
|
rs151238022
|
0.00001
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
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.10093C>G (p.Pro3365Ala)
|
rs1661940699
|
0.00001
|
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr)
|
rs1661940280
|
0.00001
|
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr)
|
rs553202000
|
0.00001
|
NM_206933.4(USH2A):c.10182+5T>C
|
rs1049628868
|
0.00001
|
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr)
|
rs765920408
|
0.00001
|
NM_206933.4(USH2A):c.10311G>A (p.Lys3437=)
|
rs777618025
|
0.00001
|
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=)
|
rs760725818
|
0.00001
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00001
|
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)
|
rs762384558
|
0.00001
|
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)
|
rs749121941
|
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.10525A>T (p.Lys3509Ter)
|
rs944675223
|
0.00001
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.10586-2A>G
|
rs370327669
|
0.00001
|
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)
|
rs749702843
|
0.00001
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
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.10763G>C (p.Gly3588Ala)
|
rs567356824
|
0.00001
|
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met)
|
rs781539138
|
0.00001
|
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)
|
rs763125604
|
0.00001
|
NM_206933.4(USH2A):c.10854C>T (p.Gly3618=)
|
rs1348201363
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
NM_206933.4(USH2A):c.10950A>G (p.Pro3650=)
|
rs372690499
|
0.00001
|
NM_206933.4(USH2A):c.11007C>T (p.Ser3669=)
|
rs752000364
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys)
|
rs758951363
|
0.00001
|
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
|
rs1660922779
|
0.00001
|
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
|
rs1314121764
|
0.00001
|
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn)
|
rs1373104511
|
0.00001
|
NM_206933.4(USH2A):c.1120G>A (p.Asp374Asn)
|
rs753619373
|
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.11328T>G (p.Tyr3776Ter)
|
rs749726310
|
0.00001
|
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu)
|
rs1660884865
|
0.00001
|
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
|
rs200521328
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)
|
rs111033395
|
0.00001
|
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
|
rs1177066787
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.11516del (p.Gln3839fs)
|
rs1558078416
|
0.00001
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
0.00001
|
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro)
|
rs1571639421
|
0.00001
|
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=)
|
rs1318290007
|
0.00001
|
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)
|
rs949082769
|
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.11822G>A (p.Arg3941Gln)
|
rs727504582
|
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.12067-1G>A
|
rs397517977
|
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.12118C>T (p.Arg4040Cys)
|
rs370339612
|
0.00001
|
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu)
|
rs867523397
|
0.00001
|
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)
|
rs1262416703
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.1215T>C (p.Asn405=)
|
rs745587883
|
0.00001
|
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile)
|
rs751834009
|
0.00001
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
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.12369T>C (p.Asp4123=)
|
rs779194517
|
0.00001
|
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val)
|
rs1657992951
|
0.00001
|
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg)
|
rs138866017
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His)
|
rs747947192
|
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.12580T>C (p.Cys4194Arg)
|
rs769001387
|
0.00001
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
NM_206933.4(USH2A):c.12585C>T (p.Phe4195=)
|
rs763205825
|
0.00001
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala)
|
rs145099178
|
0.00001
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00001
|
NM_206933.4(USH2A):c.12876T>C (p.Asn4292=)
|
rs762246558
|
0.00001
|
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn)
|
rs1482821042
|
0.00001
|
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)
|
rs140202956
|
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.12986A>G (p.Tyr4329Cys)
|
rs371401837
|
0.00001
|
NM_206933.4(USH2A):c.12987T>C (p.Tyr4329=)
|
rs1203365063
|
0.00001
|
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)
|
rs1423233510
|
0.00001
|
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val)
|
rs770620234
|
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.13148A>C (p.Asn4383Thr)
|
rs1418825414
|
0.00001
|
NM_206933.4(USH2A):c.13236G>A (p.Gln4412=)
|
rs1013791595
|
0.00001
|
NM_206933.4(USH2A):c.1327A>C (p.Asn443His)
|
rs775075026
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)
|
rs141696914
|
0.00001
|
NM_206933.4(USH2A):c.13352C>T (p.Thr4451Ile)
|
rs772298519
|
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.13430A>G (p.Tyr4477Cys)
|
rs921800139
|
0.00001
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)
|
rs746221227
|
0.00001
|
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
|
rs1268140508
|
0.00001
|
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)
|
rs774759345
|
0.00001
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly)
|
rs866877329
|
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.13805T>C (p.Phe4602Ser)
|
rs574442439
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
0.00001
|
NM_206933.4(USH2A):c.13870T>G (p.Phe4624Val)
|
rs1369860869
|
0.00001
|
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys)
|
rs906152033
|
0.00001
|
NM_206933.4(USH2A):c.1394C>T (p.Pro465Leu)
|
rs2037663532
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro)
|
rs751019233
|
0.00001
|
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)
|
rs369513607
|
0.00001
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.14140G>T (p.Ala4714Ser)
|
rs765164422
|
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.14243C>T (p.Ser4748Phe)
|
rs527236126
|
0.00001
|
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln)
|
rs1220949681
|
0.00001
|
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys)
|
rs769420341
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe)
|
rs775307880
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
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.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00001
|
NM_206933.4(USH2A):c.14595A>G (p.Gln4865=)
|
rs898025476
|
0.00001
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
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.14838G>T (p.Val4946=)
|
rs949583594
|
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.15094A>G (p.Ser5032Gly)
|
rs112798365
|
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.1510C>A (p.His504Asn)
|
rs533024548
|
0.00001
|
NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu)
|
rs773541511
|
0.00001
|
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr)
|
rs371182500
|
0.00001
|
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
|
rs1372150381
|
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.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu)
|
rs774644535
|
0.00001
|
NM_206933.4(USH2A):c.15265T>C (p.Leu5089=)
|
rs746439490
|
0.00001
|
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys)
|
rs767209934
|
0.00001
|
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)
|
rs759899869
|
0.00001
|
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
|
rs771243585
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
0.00001
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
rs1339774081
|
0.00001
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
0.00001
|
NM_206933.4(USH2A):c.15506A>G (p.His5169Arg)
|
rs146085433
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.1551-27A>G
|
rs1300984501
|
0.00001
|
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter)
|
rs1365989569
|
0.00001
|
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)
|
rs751811618
|
0.00001
|
NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)
|
rs772624410
|
0.00001
|
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala)
|
rs2037620114
|
0.00001
|
NM_206933.4(USH2A):c.1666T>C (p.Tyr556His)
|
rs1222582781
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
0.00001
|
NM_206933.4(USH2A):c.1761C>T (p.Asn587=)
|
rs1571668714
|
0.00001
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
0.00001
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
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.1841-377A>G
|
rs2036965765
|
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.1972-4C>T
|
rs772294505
|
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.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)
|
rs1364987785
|
0.00001
|
NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly)
|
rs1304016981
|
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.2195G>T (p.Gly732Val)
|
rs1360258103
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu)
|
rs1487392425
|
0.00001
|
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser)
|
rs776095235
|
0.00001
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.2460T>C (p.Asn820=)
|
rs781373128
|
0.00001
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)
|
rs727503736
|
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.2720C>T (p.Thr907Ile)
|
rs932726287
|
0.00001
|
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
|
rs776323626
|
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.2800T>C (p.Cys934Arg)
|
rs376591221
|
0.00001
|
NM_206933.4(USH2A):c.2903G>T (p.Gly968Val)
|
rs1348183693
|
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.3446A>T (p.Glu1149Val)
|
rs1318186049
|
0.00001
|
NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=)
|
rs971867675
|
0.00001
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
|
rs372053865
|
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.3680G>C (p.Gly1227Ala)
|
rs771787208
|
0.00001
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
NM_206933.4(USH2A):c.3762C>A (p.Ile1254=)
|
rs533691745
|
0.00001
|
NM_206933.4(USH2A):c.3783A>G (p.Val1261=)
|
rs200698585
|
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.3920C>G (p.Ser1307Ter)
|
rs756623509
|
0.00001
|
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=)
|
rs560861284
|
0.00001
|
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
|
rs145459379
|
0.00001
|
NM_206933.4(USH2A):c.3955C>A (p.Pro1319Thr)
|
rs773133837
|
0.00001
|
NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile)
|
rs886045953
|
0.00001
|
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)
|
rs760233343
|
0.00001
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
rs994400152
|
0.00001
|
NM_206933.4(USH2A):c.4115C>A (p.Pro1372His)
|
rs2034853248
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
0.00001
|
NM_206933.4(USH2A):c.419C>A (p.Pro140His)
|
rs759474177
|
0.00001
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
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.4349T>C (p.Val1450Ala)
|
rs886045951
|
0.00001
|
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr)
|
rs886045950
|
0.00001
|
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
|
rs2034688425
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
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.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.4627+1091T>C
|
rs886045945
|
0.00001
|
NM_206933.4(USH2A):c.4627+343A>G
|
rs2034344204
|
0.00001
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00001
|
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu)
|
rs1388648004
|
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.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr)
|
rs1418438946
|
0.00001
|
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=)
|
rs111033532
|
0.00001
|
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser)
|
rs1487579070
|
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.5083del (p.Ser1695fs)
|
rs1553300016
|
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.5298+5G>A
|
rs1176314553
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu)
|
rs372590222
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu)
|
rs748792761
|
0.00001
|
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
|
rs745762091
|
0.00001
|
NM_206933.4(USH2A):c.5528C>T (p.Pro1843Leu)
|
rs200209833
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
|
rs768501386
|
0.00001
|
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu)
|
rs763747123
|
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.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
NM_206933.4(USH2A):c.5858-12A>G
|
rs727503727
|
0.00001
|
NM_206933.4(USH2A):c.5945G>A (p.Gly1982Asp)
|
rs765590481
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=)
|
rs995870865
|
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.6083A>G (p.Tyr2028Cys)
|
rs756571385
|
0.00001
|
NM_206933.4(USH2A):c.6119G>C (p.Cys2040Ser)
|
rs748371326
|
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.6446C>A (p.Pro2149Gln)
|
rs869312182
|
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.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala)
|
rs887441664
|
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.6709G>T (p.Asp2237Tyr)
|
rs1177455978
|
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.6780C>G (p.Ser2260=)
|
rs762148018
|
0.00001
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00001
|
NM_206933.4(USH2A):c.6805+195T>G
|
rs1193295201
|
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.6934A>C (p.Lys2312Gln)
|
rs1393581129
|
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.6986C>A (p.Pro2329His)
|
rs554957414
|
0.00001
|
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys)
|
rs926377709
|
0.00001
|
NM_206933.4(USH2A):c.6994A>G (p.Thr2332Ala)
|
rs1667317930
|
0.00001
|
NM_206933.4(USH2A):c.7019A>C (p.Gln2340Pro)
|
rs751937450
|
0.00001
|
NM_206933.4(USH2A):c.7019A>T (p.Gln2340Leu)
|
rs751937450
|
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.705A>G (p.Thr235=)
|
rs767897482
|
0.00001
|
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val)
|
rs1475753019
|
0.00001
|
NM_206933.4(USH2A):c.7138C>T (p.Leu2380Phe)
|
rs1308006303
|
0.00001
|
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe)
|
rs199825458
|
0.00001
|
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=)
|
rs372817698
|
0.00001
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
|
rs937210387
|
0.00001
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe)
|
rs775824145
|
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.7451+3G>A
|
rs397518030
|
0.00001
|
NM_206933.4(USH2A):c.7452-3C>T
|
rs768233894
|
0.00001
|
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=)
|
rs769678033
|
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.7617G>A (p.Pro2539=)
|
rs773159617
|
0.00001
|
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg)
|
rs781685696
|
0.00001
|
NM_206933.4(USH2A):c.7698T>C (p.Tyr2566=)
|
rs533751971
|
0.00001
|
NM_206933.4(USH2A):c.7770A>G (p.Leu2590=)
|
rs1665138334
|
0.00001
|
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)
|
rs121912598
|
0.00001
|
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)
|
rs397518032
|
0.00001
|
NM_206933.4(USH2A):c.7880T>A (p.Ile2627Asn)
|
rs745480430
|
0.00001
|
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala)
|
rs752549947
|
0.00001
|
NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser)
|
rs745559540
|
0.00001
|
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser)
|
rs758382005
|
0.00001
|
NM_206933.4(USH2A):c.800T>C (p.Val267Ala)
|
rs1047582820
|
0.00001
|
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn)
|
rs754677752
|
0.00001
|
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp)
|
rs771526931
|
0.00001
|
NM_206933.4(USH2A):c.8102T>C (p.Leu2701Pro)
|
rs982853731
|
0.00001
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
|
rs1238086961
|
0.00001
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
0.00001
|
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln)
|
rs267598376
|
0.00001
|
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)
|
rs549796389
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn)
|
rs750687826
|
0.00001
|
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg)
|
rs374456269
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
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.8559-2A>G
|
rs397518039
|
0.00001
|
NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala)
|
rs527467361
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
0.00001
|
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn)
|
rs1664492083
|
0.00001
|
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
|
rs760779633
|
0.00001
|
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
|
rs762358589
|
0.00001
|
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn)
|
rs763232931
|
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.8985C>G (p.Ile2995Met)
|
rs901891136
|
0.00001
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
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.9155A>G (p.Glu3052Gly)
|
rs2464606337
|
0.00001
|
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
|
rs766298464
|
0.00001
|
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys)
|
rs1368683731
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)
|
rs1359713084
|
0.00001
|
NM_206933.4(USH2A):c.9372-1G>A
|
rs1558111861
|
0.00001
|
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp)
|
rs749482634
|
0.00001
|
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=)
|
rs876657631
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_206933.4(USH2A):c.9528T>G (p.Pro3176=)
|
rs781101196
|
0.00001
|
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser)
|
rs1229658229
|
0.00001
|
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met)
|
rs368240096
|
0.00001
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)
|
rs760858249
|
0.00001
|
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln)
|
rs774654676
|
0.00001
|
NM_206933.4(USH2A):c.9714T>C (p.Ser3238=)
|
rs979950007
|
0.00001
|
NM_206933.4(USH2A):c.9771T>C (p.Asn3257=)
|
rs755843100
|
0.00001
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
rs767694082
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp)
|
rs762076576
|
0.00001
|
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr)
|
rs1236116000
|
0.00001
|
NM_206933.4(USH2A):c.9834C>A (p.Asn3278Lys)
|
rs904037823
|
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.9875A>G (p.Gln3292Arg)
|
rs1243226250
|
0.00001
|
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
|
rs1662221668
|
0.00001
|
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)
|
rs757439664
|
0.00001
|
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NM_206933.4(USH2A):c.9959-1G>A
|
rs970237364
|
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_206933.4(USH2A):c.9990T>C (p.Asn3330=)
|
rs762565385
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
GRCh37/hg19 10q22.1(chr10:73405588-73406374)x1
|
|
|
GRCh37/hg19 1q41(chr1:216138660-216270555)
|
|
|
MYO7A, IVS27AS, G-C, -1
|
|
|
NC_000001.10:g.(215824144_215844313)_(215848959_215853490)del
|
|
|
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
|
|
|
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
|
|
|
NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del
|
|
|
NC_000001.10:g.(?_216011333)_(216040512_?)del
|
|
|
NC_000001.10:g.216144119_216591855del447737
|
|
|
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
|
|
|
NC_000001.11:g.(?_216108034)_(216108100_?)del
|
|
|
NC_000001.11:g.(?_216270461)_(216260162_?)del
|
|
|
NC_000001.11:g.(?_216462679)_(216462739_?)del
|
|
|
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
|
|
|
NC_000005.10:g.(?_140676634)_(140678035_?)del
|
|
|
NC_000005.10:g.(?_140679002)_(140683219_?)dup
|
|
|
NC_000005.10:g.56286060ATT[1]
|
|
|
NC_000005.10:g.90118339_90119245del
|
rs2531240476
|
|
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
|
|
|
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
|
|
|
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
|
|
|
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
|
|
|
NC_000005.9:g.(?_140052489)_(140072312_?)del
|
|
|
NC_000005.9:g.(?_140056219)_(140059488_?)del
|
|
|
NC_000005.9:g.(?_140058567)_(140062824_?)dup
|
|
|
NC_000005.9:g.(?_140059894)_(140070834_?)del
|
|
|
NC_000005.9:g.140059894_140070834del
|
|
|
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
|
|
|
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
|
|
|
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
|
|
|
NC_000010.10:g.(73454017_73455174)_73468962del
|
|
|
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
|
|
|
NC_000010.11:g.(?_71645831)_(71646617_?)del
|
|
|
NC_000010.11:g.71682535dup
|
rs753886326
|
|
NC_000010.11:g.71806223_71806224delinsTT
|
rs876657422
|
|
NC_000011.10:g.77142712dup
|
rs1555051390
|
|
NC_000011.10:g.77190085_77190095del
|
rs397516303
|
|
NC_000011.10:g.77198597_77198604delinsCA
|
rs111033259
|
|
NC_012920.1(MT-TS2):m.12258C>A
|
rs118203888
|
|
NG_007083.1:g.371658_507674del
|
|
|
NM_000092.5(COL4A4):c.2624del (p.Pro875fs)
|
rs2474120580
|
|
NM_000260.4(MYO7A):c.1003+1G>A
|
rs1952694662
|
|
NM_000260.4(MYO7A):c.1004C>T (p.Ala335Val)
|
rs1565349265
|
|
NM_000260.4(MYO7A):c.1005_1012delinsTGCCAACAGCCCCTTGCTGCCTCCCCTGATGCTGTGCCCC (p.Arg336fs)
|
|
|
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter)
|
rs1951307710
|
|
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter)
|
rs782639389
|
|
NM_000260.4(MYO7A):c.1057G>A (p.Ala353Thr)
|
|
|
NM_000260.4(MYO7A):c.1069T>C (p.Ser357Pro)
|
rs797033992
|
|
NM_000260.4(MYO7A):c.1080+1G>C
|
|
|
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs)
|
rs1591286221
|
|
NM_000260.4(MYO7A):c.1092A>T (p.Pro364=)
|
rs1952856251
|
|
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter)
|
rs1951308166
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu)
|
rs201491278
|
|
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val)
|
rs782728522
|
|
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs)
|
rs1591286671
|
|
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys)
|
rs782227657
|
|
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
|
rs1555067598
|
|
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val)
|
rs1555067608
|
|
NM_000260.4(MYO7A):c.1175T>C (p.Leu392Pro)
|
rs1226538179
|
|
NM_000260.4(MYO7A):c.117_132+6del
|
rs1555051567
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1191C>T (p.Ala397=)
|
rs557165173
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.1200G>T (p.Lys400Asn)
|
|
|
NM_000260.4(MYO7A):c.1213C>T (p.Arg405Trp)
|
rs375745526
|
|
NM_000260.4(MYO7A):c.1217T>A (p.Leu406Gln)
|
rs2496843802
|
|
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)
|
rs2496844332
|
|
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=)
|
rs886048673
|
|
NM_000260.4(MYO7A):c.1265_1284del (p.Pro422fs)
|
|
|
NM_000260.4(MYO7A):c.132+6T>C
|
rs781852295
|
|
NM_000260.4(MYO7A):c.133-2A>C
|
rs782064437
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.133-7_146dup
|
rs1555054558
|
|
NM_000260.4(MYO7A):c.1343+1G>A
|
rs914189193
|
|
NM_000260.4(MYO7A):c.1343+8G>A
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1344-2A>G
|
rs111033415
|
|
NM_000260.4(MYO7A):c.1344-7C>G
|
rs886048674
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter)
|
rs1953058015
|
|
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs)
|
rs1057519225
|
|
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter)
|
rs1953066164
|
|
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)
|
rs2496872707
|
|
NM_000260.4(MYO7A):c.1554+244T>C
|
rs3740763
|
|
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=)
|
rs886048675
|
|
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys)
|
rs886048669
|
|
NM_000260.4(MYO7A):c.156C>T (p.Asn52=)
|
rs886048669
|
|
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del)
|
rs1555070062
|
|
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg)
|
rs797044492
|
|
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)
|
rs2496884365
|
|
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup)
|
rs1555070084
|
|
NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr)
|
rs781843594
|
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721
|
|
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)
|
rs2496886375
|
|
NM_000260.4(MYO7A):c.1655A>G (p.Asn552Ser)
|
rs782043663
|
|
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)
|
rs2135312491
|
|
NM_000260.4(MYO7A):c.1690+3A>G
|
rs1555070313
|
|
NM_000260.4(MYO7A):c.1691-2A>G
|
rs1555072299
|
|
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=)
|
rs781881163
|
|
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro)
|
rs397516287
|
|
NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe)
|
rs1953517239
|
|
NM_000260.4(MYO7A):c.178dup (p.His60fs)
|
|
|
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)
|
rs121965082
|
|
NM_000260.4(MYO7A):c.1798-3C>G
|
rs1555076939
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
NM_000260.4(MYO7A):c.1804del (p.Glu602fs)
|
rs2135406368
|
|
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)
|
rs782311929
|
|
NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer)
|
rs2135406725
|
|
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter)
|
rs1954237712
|
|
NM_000260.4(MYO7A):c.1845del (p.Lys615fs)
|
rs886037762
|
|
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)
|
rs1954240719
|
|
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met)
|
rs782412089
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.1868G>T (p.Arg623Leu)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)
|
rs121965083
|
|
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter)
|
rs1954248090
|
|
NM_000260.4(MYO7A):c.19-2A>G
|
rs1555051384
|
|
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg)
|
rs797044514
|
|
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter)
|
rs1954250327
|
|
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
|
rs2497044244
|
|
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)
|
rs2497044284
|
|
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)
|
rs1555078826
|
|
NM_000260.4(MYO7A):c.1954T>C (p.Cys652Arg)
|
rs957394613
|
|
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)
|
rs1954474030
|
|
NM_000260.4(MYO7A):c.1961G>A (p.Arg654His)
|
rs41298143
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del)
|
rs1555054736
|
|
NM_000260.4(MYO7A):c.1973del (p.Tyr658fs)
|
|
|
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter)
|
rs1954477050
|
|
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)
|
rs1954477050
|
|
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)
|
rs878853378
|
|
NM_000260.4(MYO7A):c.1977del (p.Gly660fs)
|
rs1555078942
|
|
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val)
|
rs1555078946
|
|
NM_000260.4(MYO7A):c.1981ATG[1] (p.Met662del)
|
|
|
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)
|
rs782396605
|
|
NM_000260.4(MYO7A):c.2001C>T (p.Ile667=)
|
rs782026699
|
|
NM_000260.4(MYO7A):c.2028C>G (p.Tyr676Ter)
|
|
|
NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro)
|
rs781991817
|
|
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)
|
rs2497079129
|
|
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)
|
rs2497079486
|
|
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)
|
rs2497079590
|
|
NM_000260.4(MYO7A):c.2094+2T>C
|
|
|
NM_000260.4(MYO7A):c.2116del (p.Gln706fs)
|
rs2497089118
|
|
NM_000260.4(MYO7A):c.2119C>A (p.Arg707Ser)
|
rs190624231
|
|
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
|
rs782176754
|
|
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)
|
rs2497089724
|
|
NM_000260.4(MYO7A):c.2187+1G>T
|
rs111033290
|
|
NM_000260.4(MYO7A):c.223del (p.Asp75fs)
|
rs876657415
|
|
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs)
|
rs1555080760
|
|
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe)
|
rs1224881006
|
|
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
|
rs2497127256
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2283-2_2293del
|
rs1555082041
|
|
NM_000260.4(MYO7A):c.2283G>T (p.Arg761Ser)
|
|
|
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)
|
rs2497161585
|
|
NM_000260.4(MYO7A):c.2307del (p.Asn769fs)
|
rs1060499800
|
|
NM_000260.4(MYO7A):c.2355del (p.Asn786fs)
|
rs1591369118
|
|
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)
|
rs1555082145
|
|
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter)
|
rs1555082575
|
|
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)
|
rs778880077
|
|
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)
|
rs1955013824
|
|
NM_000260.4(MYO7A):c.2441del (p.Arg814fs)
|
rs2497175190
|
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670
|
|
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter)
|
rs1955017383
|
|
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)
|
rs533027065
|
|
NM_000260.4(MYO7A):c.2468G>C (p.Arg823Pro)
|
rs533027065
|
|
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter)
|
rs1407246264
|
|
NM_000260.4(MYO7A):c.2480A>G (p.Tyr827Cys)
|
rs782474674
|
|
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys)
|
rs797044493
|
|
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)
|
rs397516296
|
|
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys)
|
rs2135473615
|
|
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter)
|
rs1555082994
|
|
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)
|
rs2497178838
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr)
|
rs1591374351
|
|
NM_000260.4(MYO7A):c.2648del (p.Glu883fs)
|
rs2497186927
|
|
NM_000260.4(MYO7A):c.2649G>A (p.Glu883=)
|
rs1955078498
|
|
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)
|
rs782227741
|
|
NM_000260.4(MYO7A):c.2695-58C>G
|
rs3740762
|
|
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)
|
rs2497201682
|
|
NM_000260.4(MYO7A):c.2717G>T (p.Arg906Leu)
|
rs868977760
|
|
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu)
|
rs199979876
|
|
NM_000260.4(MYO7A):c.272del (p.Asp91fs)
|
rs2496578500
|
|
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)
|
rs2497202889
|
|
NM_000260.4(MYO7A):c.2746A>G (p.Lys916Glu)
|
rs1555084090
|
|
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln)
|
rs565162134
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)
|
rs2496578693
|
|
NM_000260.4(MYO7A):c.2779del (p.Glu927fs)
|
rs2497203875
|
|
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter)
|
rs1955177223
|
|
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile)
|
rs536410625
|
|
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter)
|
rs1955180601
|
|
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)
|
rs1296612982
|
|
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)
|
rs2497205388
|
|
NM_000260.4(MYO7A):c.285+1G>T
|
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.288G>T (p.Thr96=)
|
rs56023295
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.2905-1G>C
|
rs1171417339
|
|
NM_000260.4(MYO7A):c.2926_2938del (p.Glu976fs)
|
|
|
NM_000260.4(MYO7A):c.295G>C (p.Gly99Arg)
|
|
|
NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs)
|
rs2497221075
|
|
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)
|
rs558458890
|
|
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)
|
rs878853237
|
|
NM_000260.4(MYO7A):c.3008A>G (p.Lys1003Arg)
|
|
|
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal)
|
rs782367511
|
|
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del)
|
rs1180304045
|
|
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter)
|
rs1955281533
|
|
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu)
|
rs782192026
|
|
NM_000260.4(MYO7A):c.3109-15C>T
|
rs369729874
|
|
NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG
|
rs149931272
|
|
NM_000260.4(MYO7A):c.3109-27_3109-7dup
|
rs1555085333
|
|
NM_000260.4(MYO7A):c.3109-2A>G
|
rs781977497
|
|
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)
|
rs1555061466
|
|
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys)
|
rs1555061483
|
|
NM_000260.4(MYO7A):c.3193A>G (p.Ser1065Gly)
|
rs763798045
|
|
NM_000260.4(MYO7A):c.3229A>T (p.Thr1077Ser)
|
rs1555085543
|
|
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)
|
rs116892396
|
|
NM_000260.4(MYO7A):c.3260T>G (p.Leu1087Arg)
|
rs375050157
|
|
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter)
|
rs1955333327
|
|
NM_000260.4(MYO7A):c.3275del (p.Gly1092fs)
|
rs2497235949
|
|
NM_000260.4(MYO7A):c.3286-2A>C
|
|
|
NM_000260.4(MYO7A):c.3292C>G (p.Leu1098Val)
|
rs1591386678
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter)
|
rs1307924861
|
|
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)
|
rs1555085978
|
|
NM_000260.4(MYO7A):c.3375+33G>C
|
rs948972
|
|
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs)
|
rs1064793208
|
|
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=)
|
rs543234546
|
|
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter)
|
rs1555051419
|
|
NM_000260.4(MYO7A):c.3489G>A (p.Leu1163=)
|
rs1555087287
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000260.4(MYO7A):c.3503+2T>C
|
rs2497276257
|
|
NM_000260.4(MYO7A):c.3503+8C>A
|
rs1955532068
|
|
NM_000260.4(MYO7A):c.3504-1G>A
|
rs1555090171
|
|
NM_000260.4(MYO7A):c.3504-2A>C
|
|
|
NM_000260.4(MYO7A):c.3504-2A>G
|
rs1555090168
|
|
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)
|
rs1555090196
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile)
|
rs1555090314
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.358C>T (p.Arg120Cys)
|
rs397516302
|
|
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs)
|
rs1555090368
|
|
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
|
rs782694195
|
|
NM_000260.4(MYO7A):c.3599del (p.Gly1200fs)
|
|
|
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr)
|
rs117966637
|
|
NM_000260.4(MYO7A):c.3607G>T (p.Ala1203Ser)
|
rs568301918
|
|
NM_000260.4(MYO7A):c.3631-1G>C
|
rs1555090885
|
|
NM_000260.4(MYO7A):c.3631-6C>A
|
rs1047678585
|
|
NM_000260.4(MYO7A):c.3656del (p.Gly1219fs)
|
|
|
NM_000260.4(MYO7A):c.3688C>T (p.Arg1230Cys)
|
rs776862829
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
NM_000260.4(MYO7A):c.3751-14T>C
|
rs1955994846
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)
|
rs1955997471
|
|
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)
|
rs1555091636
|
|
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs)
|
rs2135562294
|
|
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser)
|
rs749747871
|
|
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs)
|
rs760251968
|
|
NM_000260.4(MYO7A):c.3880_3881del (p.Lys1294fs)
|
|
|
NM_000260.4(MYO7A):c.3886C>G (p.Arg1296Gly)
|
rs773004793
|
|
NM_000260.4(MYO7A):c.388A>G (p.Met130Val)
|
rs782473441
|
|
NM_000260.4(MYO7A):c.3891C>A (p.Phe1297Leu)
|
rs375475374
|
|
NM_000260.4(MYO7A):c.3924+109G>A
|
rs4944148
|
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
|
NM_000260.4(MYO7A):c.3924+31_3924+46del
|
rs759572835
|
|
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=)
|
rs1349274983
|
|
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu)
|
rs1555061692
|
|
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser)
|
rs1952429583
|
|
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)
|
rs2135575353
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397C>G (p.His133Asp)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter)
|
rs1956130442
|
|
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del)
|
rs1555092931
|
|
NM_000260.4(MYO7A):c.4017dup (p.Ala1340fs)
|
rs2497410309
|
|
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)
|
rs376291076
|
|
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)
|
rs1555092993
|
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028
|
|
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser)
|
rs763469001
|
|
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del)
|
rs1437625274
|
|
NM_000260.4(MYO7A):c.4035C>G (p.Phe1345Leu)
|
rs1956138822
|
|
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser)
|
rs111534474
|
|
NM_000260.4(MYO7A):c.4075G>A (p.Glu1359Lys)
|
rs753672693
|
|
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met)
|
rs774773009
|
|
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)
|
rs1480697910
|
|
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)
|
rs869312181
|
|
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln)
|
rs886048677
|
|
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter)
|
rs1956149175
|
|
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His)
|
rs2135577456
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
NM_000260.4(MYO7A):c.4153-7C>G
|
rs369489756
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4153-8C>T
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter)
|
rs1956480240
|
|
NM_000260.4(MYO7A):c.4168G>T (p.Glu1390Ter)
|
|
|
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val)
|
rs727504594
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4194A>G (p.Val1398=)
|
rs1591438864
|
|
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter)
|
rs916332384
|
|
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter)
|
rs1956485578
|
|
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys)
|
rs377391891
|
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070
|
|
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)
|
rs1555096223
|
|
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter)
|
rs1956496669
|
|
NM_000260.4(MYO7A):c.4327A>C (p.Ile1443Leu)
|
rs762660033
|
|
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del)
|
rs1432069074
|
|
NM_000260.4(MYO7A):c.4351G>T (p.Ala1451Ser)
|
rs754360346
|
|
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)
|
rs2497545192
|
|
NM_000260.4(MYO7A):c.4379G>C (p.Ser1460Thr)
|
rs746713762
|
|
NM_000260.4(MYO7A):c.4397G>A (p.Trp1466Ter)
|
|
|
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter)
|
rs1956759935
|
|
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter)
|
rs1956761177
|
|
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln)
|
rs1956761416
|
|
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter)
|
rs1956761416
|
|
NM_000260.4(MYO7A):c.4485G>A (p.Trp1495Ter)
|
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079
|
|
NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs)
|
rs2496487970
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter)
|
rs1956843097
|
|
NM_000260.4(MYO7A):c.4568+10C>A
|
rs367801483
|
|
NM_000260.4(MYO7A):c.4568+12C>G
|
rs72933642
|
|
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)
|
rs1555100200
|
|
NM_000260.4(MYO7A):c.4592T>C (p.Leu1531Pro)
|
rs1956914595
|
|
NM_000260.4(MYO7A):c.4593G>T (p.Leu1531=)
|
rs762011600
|
|
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)
|
rs1952434877
|
|
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser)
|
rs886048678
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs)
|
rs1555100315
|
|
NM_000260.4(MYO7A):c.4676C>T (p.Ser1559Phe)
|
rs773381538
|
|
NM_000260.4(MYO7A):c.471-2A>C
|
rs1302543317
|
|
NM_000260.4(MYO7A):c.4759G>T (p.Ala1587Ser)
|
rs1956929954
|
|
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter)
|
rs1181067492
|
|
NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu)
|
rs1956933257
|
|
NM_000260.4(MYO7A):c.479C>G (p.Ser160Cys)
|
|
|
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)
|
rs1052030
|
|
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)
|
rs397516315
|
|
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs)
|
rs1555100603
|
|
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs)
|
rs1555100625
|
|
NM_000260.4(MYO7A):c.4852+1G>A
|
rs1956938352
|
|
NM_000260.4(MYO7A):c.4852+2T>C
|
rs2135682219
|
|
NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp)
|
rs1265861779
|
|
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs)
|
rs1188637368
|
|
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)
|
rs1555101858
|
|
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile)
|
rs1591467534
|
|
NM_000260.4(MYO7A):c.4940G>C (p.Gly1647Ala)
|
rs1957063555
|
|
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)
|
rs1201586094
|
|
NM_000260.4(MYO7A):c.4953C>G (p.Gly1651=)
|
rs1957064908
|
|
NM_000260.4(MYO7A):c.496del (p.Glu166fs)
|
rs111033448
|
|
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)
|
rs1401619267
|
|
NM_000260.4(MYO7A):c.4989del (p.Thr1664fs)
|
|
|
NM_000260.4(MYO7A):c.4994_5001del (p.Asp1665fs)
|
|
|
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs)
|
rs1591467894
|
|
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs)
|
rs1591467918
|
|
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs)
|
rs1555102041
|
|
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)
|
rs766461538
|
|
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=)
|
rs886048679
|
|
NM_000260.4(MYO7A):c.5043+1G>T
|
rs1555102147
|
|
NM_000260.4(MYO7A):c.5043+3A>G
|
rs2497635356
|
|
NM_000260.4(MYO7A):c.5044-1G>A
|
|
|
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs)
|
rs1591470904
|
|
NM_000260.4(MYO7A):c.5075A>G (p.Gln1692Arg)
|
rs1957120301
|
|
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=)
|
rs886048680
|
|
NM_000260.4(MYO7A):c.5098C>T (p.Leu1700=)
|
rs1486805195
|
|
NM_000260.4(MYO7A):c.5127del (p.Lys1710fs)
|
|
|
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del)
|
rs1555102843
|
|
NM_000260.4(MYO7A):c.5146G>A (p.Glu1716Lys)
|
rs1236207116
|
|
NM_000260.4(MYO7A):c.5168+2T>C
|
rs1192104600
|
|
NM_000260.4(MYO7A):c.5174C>A (p.Pro1725Gln)
|
rs1192083459
|
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
|
NM_000260.4(MYO7A):c.5179A>C (p.Lys1727Gln)
|
rs1187644045
|
|
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)
|
rs1187644045
|
|
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)
|
rs782347270
|
|
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs)
|
rs111033276
|
|
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter)
|
rs1591474980
|
|
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)
|
rs111033477
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs)
|
rs1555103458
|
|
NM_000260.4(MYO7A):c.5248del (p.Glu1750fs)
|
|
|
NM_000260.4(MYO7A):c.5253G>A (p.Pro1751=)
|
rs377388669
|
|
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)
|
rs1555103532
|
|
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter)
|
rs2497664685
|
|
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr)
|
rs762131185
|
|
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)
|
rs1957190327
|
|
NM_000260.4(MYO7A):c.5324T>A (p.Ile1775Asn)
|
rs115123584
|
|
NM_000260.4(MYO7A):c.5327-10C>G
|
rs781062618
|
|
NM_000260.4(MYO7A):c.5327-5C>G
|
rs1957264472
|
|
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=)
|
rs1957274964
|
|
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)
|
rs778009227
|
|
NM_000260.4(MYO7A):c.5445G>A (p.Val1815=)
|
rs910989813
|
|
NM_000260.4(MYO7A):c.5458C>G (p.Gln1820Glu)
|
rs369973293
|
|
NM_000260.4(MYO7A):c.5481-1G>C
|
rs1555105118
|
|
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter)
|
rs768418736
|
|
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)
|
rs1555105135
|
|
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)
|
rs781893704
|
|
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)
|
rs748080151
|
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151
|
|
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His)
|
rs1385324903
|
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202
|
|
NM_000260.4(MYO7A):c.5589C>T (p.His1863=)
|
rs727504024
|
|
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter)
|
rs1957393464
|
|
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)
|
rs1299898646
|
|
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter)
|
rs1957431273
|
|
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=)
|
rs747516555
|
|
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter)
|
rs1406392019
|
|
NM_000260.4(MYO7A):c.5710dup (p.His1904fs)
|
|
|
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln)
|
rs886048672
|
|
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)
|
rs780609120
|
|
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu)
|
rs1555106562
|
|
NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp)
|
rs1957511416
|
|
NM_000260.4(MYO7A):c.5782T>C (p.Cys1928Arg)
|
rs774755172
|
|
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter)
|
rs1957512851
|
|
NM_000260.4(MYO7A):c.578C>A (p.Thr193Asn)
|
rs1188616455
|
|
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)
|
rs1188616455
|
|
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)
|
rs1555106609
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter)
|
rs1957520697
|
|
NM_000260.4(MYO7A):c.5856+1G>A
|
|
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962
|
|
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)
|
rs948962
|
|
NM_000260.4(MYO7A):c.5861T>C (p.Leu1954Pro)
|
rs1198415650
|
|
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)
|
rs111033232
|
|
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)
|
rs1397834886
|
|
NM_000260.4(MYO7A):c.5899C>G (p.Arg1967Gly)
|
rs376764423
|
|
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
|
rs1266443165
|
|
NM_000260.4(MYO7A):c.5945-9G>C
|
rs1233077552
|
|
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met)
|
rs377517717
|
|
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs)
|
rs1555107555
|
|
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile)
|
rs1957642204
|
|
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter)
|
rs1957642707
|
|
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter)
|
rs186644871
|
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326
|
|
NM_000260.4(MYO7A):c.602del (p.Asn201fs)
|
rs2496748386
|
|
NM_000260.4(MYO7A):c.6044A>G (p.Tyr2015Cys)
|
rs2135762121
|
|
NM_000260.4(MYO7A):c.6048C>T (p.Tyr2016=)
|
rs1957653909
|
|
NM_000260.4(MYO7A):c.6051+1G>A
|
rs1403288739
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro)
|
rs770778096
|
|
NM_000260.4(MYO7A):c.6079_6081del (p.His2027del)
|
rs1957839812
|
|
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter)
|
rs1957842461
|
|
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)
|
rs1957844295
|
|
NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp)
|
rs1957846244
|
|
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter)
|
rs530700420
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs)
|
rs2135785861
|
|
NM_000260.4(MYO7A):c.6229dup (p.Trp2077fs)
|
rs2135785880
|
|
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter)
|
rs1957851234
|
|
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs)
|
rs730880367
|
|
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp)
|
rs759614902
|
|
NM_000260.4(MYO7A):c.6238-1G>C
|
rs1957902751
|
|
NM_000260.4(MYO7A):c.6238-2A>C
|
rs1555109612
|
|
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=)
|
rs727504834
|
|
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000260.4(MYO7A):c.6280G>C (p.Glu2094Gln)
|
rs887599531
|
|
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu)
|
rs1555109788
|
|
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala)
|
rs1555109806
|
|
NM_000260.4(MYO7A):c.6352A>G (p.Lys2118Glu)
|
rs1957914664
|
|
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)
|
rs1957972101
|
|
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs)
|
rs2135798786
|
|
NM_000260.4(MYO7A):c.6381G>A (p.Glu2127=)
|
rs1307826366
|
|
NM_000260.4(MYO7A):c.6384CCT[1] (p.Leu2130del)
|
rs539755538
|
|
NM_000260.4(MYO7A):c.639C>G (p.Phe213Leu)
|
rs540197003
|
|
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)
|
rs2497831020
|
|
NM_000260.4(MYO7A):c.6431A>G (p.Lys2144Arg)
|
rs1957976673
|
|
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs)
|
rs1555110680
|
|
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs)
|
rs1555111077
|
|
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile)
|
rs1408119204
|
|
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp)
|
rs1555111106
|
|
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly)
|
rs1003695470
|
|
NM_000260.4(MYO7A):c.6479G>A (p.Trp2160Ter)
|
|
|
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile)
|
rs544709413
|
|
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr)
|
rs1591515086
|
|
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del)
|
rs1555062984
|
|
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro)
|
rs876657417
|
|
NM_000260.4(MYO7A):c.6559-11C>T
|
rs34517202
|
|
NM_000260.4(MYO7A):c.6559-13C>G
|
rs2135804929
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe)
|
rs397516333
|
|
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)
|
rs1555111501
|
|
NM_000260.4(MYO7A):c.6638G>A (p.Ser2213Asn)
|
rs1470578844
|
|
NM_000260.4(MYO7A):c.686dup (p.Ala230fs)
|
|
|
NM_000260.4(MYO7A):c.701A>G (p.Gln234Arg)
|
|
|
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter)
|
rs1952532000
|
|
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)
|
rs121965081
|
|
NM_000260.4(MYO7A):c.736-3C>T
|
rs1555063792
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_000260.4(MYO7A):c.75_76del (p.Ala26fs)
|
|
|
NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys)
|
rs2135244325
|
|
NM_000260.4(MYO7A):c.767del (p.Tyr256fs)
|
rs2496762929
|
|
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter)
|
rs1555064033
|
|
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter)
|
rs2135244869
|
|
NM_000260.4(MYO7A):c.798del (p.Lys267fs)
|
|
|
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)
|
rs2496764008
|
|
NM_000260.4(MYO7A):c.83_84del (p.Val28fs)
|
rs2496489271
|
|
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter)
|
rs1952585733
|
|
NM_000260.4(MYO7A):c.843G>A (p.Leu281=)
|
rs1555064274
|
|
NM_000260.4(MYO7A):c.845C>A (p.Ala282Asp)
|
|
|
NM_000260.4(MYO7A):c.846dup (p.Met283fs)
|
rs1952586315
|
|
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter)
|
rs1952682554
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000260.4(MYO7A):c.93C>T (p.Cys31=)
|
rs35689081
|
|
NM_000260.4(MYO7A):c.947G>A (p.Trp316Ter)
|
|
|
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter)
|
rs782747153
|
|
NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly)
|
rs1952692105
|
|
NM_000260.4(MYO7A):c.979_985dup (p.Gly329fs)
|
|
|
NM_000260.4(MYO7A):c.983T>C (p.Leu328Pro)
|
rs1281366817
|
|
NM_000260.4(MYO7A):c.999T>A (p.Tyr333Ter)
|
rs111033285
|
|
NM_000260.4(MYO7A):c.[3256del;3260T>C]
|
|
|
NM_000260.4(MYO7A):c.[3784G>A;5086C>T]
|
|
|
NM_000554.6(CRX):c.29A>G (p.His10Arg)
|
rs754630141
|
|
NM_001142763.1:c.-189197_c.610-5166del
|
|
|
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
|
rs587776894
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195263.2(PDZD7):c.2319_2342del (p.773RS[2])
|
rs762000985
|
|
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7])
|
rs200896335
|
|
NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His)
|
rs1852354254
|
|
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)
|
rs148695069
|
|
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn)
|
rs145910584
|
|
NM_001195263.2(PDZD7):c.928+20del
|
rs77484072
|
|
NM_001195794.1(CLRN1):c.-186A>G
|
rs1715627039
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001267727.2(ARSG):c.1212+1G>A
|
rs2509555531
|
|
NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys)
|
rs751663413
|
|
NM_001267727.2(ARSG):c.1326del (p.Ser443fs)
|
rs751461705
|
|
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)
|
rs1568445893
|
|
NM_001267727.2(ARSG):c.407-2A>C
|
rs2510614539
|
|
NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter)
|
rs1253942262
|
|
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
|
rs923958450
|
|
NM_001267727.2(ARSG):c.705-3940_982+2952del
|
|
|
NM_001267727.2(ARSG):c.821G>A (p.Trp274Ter)
|
|
|
NM_001267727.2(ARSG):c.982+1G>C
|
rs1302913513
|
|
NM_001384140.1(PCDH15):c.-155G>C
|
rs886047069
|
|
NM_001384140.1(PCDH15):c.-5AGA[1] (p.Met1del)
|
rs1555135527
|
|
NM_001384140.1(PCDH15):c.1003C>G (p.Pro335Ala)
|
rs2051732380
|
|
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
|
rs2539929475
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.1098+14A>G
|
rs764625426
|
|
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
|
rs2539684506
|
|
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
|
rs753408470
|
|
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476
|
|
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg)
|
rs199786639
|
|
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
NM_001384140.1(PCDH15):c.1220C>T (p.Ser407Phe)
|
rs886047067
|
|
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
|
rs2133924160
|
|
NM_001384140.1(PCDH15):c.1244C>T (p.Ser415Leu)
|
rs747154146
|
|
NM_001384140.1(PCDH15):c.1305+1G>A
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1G>C
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1del
|
rs1554833699
|
|
NM_001384140.1(PCDH15):c.1306-2A>G
|
rs2539511295
|
|
NM_001384140.1(PCDH15):c.1306A>G (p.Thr436Ala)
|
rs747795209
|
|
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
|
rs2539510842
|
|
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
|
rs2539510522
|
|
NM_001384140.1(PCDH15):c.1373G>A (p.Gly458Asp)
|
rs766969775
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.139del (p.Asp47fs)
|
rs1555032952
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly)
|
rs1294048440
|
|
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
|
rs2539507853
|
|
NM_001384140.1(PCDH15):c.1440+2T>C
|
rs1363688830
|
|
NM_001384140.1(PCDH15):c.1441-1G>T
|
rs2133801703
|
|
NM_001384140.1(PCDH15):c.1441-2A>C
|
rs758482449
|
|
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr)
|
rs1564625358
|
|
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
|
rs2539477388
|
|
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser)
|
rs1196401374
|
|
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018
|
|
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
|
rs2539476594
|
|
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
|
rs2539476089
|
|
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs)
|
rs767847479
|
|
NM_001384140.1(PCDH15):c.157+1G>C
|
rs1057516770
|
|
NM_001384140.1(PCDH15):c.158-16930T>C
|
rs207470941
|
|
NM_001384140.1(PCDH15):c.158-1G>A
|
rs876657418
|
|
NM_001384140.1(PCDH15):c.1590+20A>G
|
rs7093302
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer)
|
rs1554816541
|
|
NM_001384140.1(PCDH15):c.1643T>G (p.Ile548Ser)
|
rs376751126
|
|
NM_001384140.1(PCDH15):c.1697_1699del (p.Thr566del)
|
rs1394210823
|
|
NM_001384140.1(PCDH15):c.1699A>G (p.Ile567Val)
|
|
|
NM_001384140.1(PCDH15):c.16_20del (p.Tyr6fs)
|
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1757C>T (p.Ala586Val)
|
rs201301491
|
|
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs)
|
rs1057517150
|
|
NM_001384140.1(PCDH15):c.1784+1G>T
|
rs761865629
|
|
NM_001384140.1(PCDH15):c.1785-2A>C
|
rs1057516474
|
|
NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)
|
rs1022105558
|
|
NM_001384140.1(PCDH15):c.1799C>G (p.Thr600Ser)
|
rs1371226970
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)
|
rs1590691343
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
rs1564497773
|
|
NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe)
|
rs2133060549
|
|
NM_001384140.1(PCDH15):c.1897G>A (p.Ala633Thr)
|
rs2042563083
|
|
NM_001384140.1(PCDH15):c.1917+13GT[10]
|
rs5785040
|
|
NM_001384140.1(PCDH15):c.1917+2T>C
|
rs1554806149
|
|
NM_001384140.1(PCDH15):c.1918-1G>A
|
rs2540012395
|
|
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn)
|
rs1455035148
|
|
NM_001384140.1(PCDH15):c.1934G>T (p.Gly645Val)
|
rs763226433
|
|
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)
|
rs137853004
|
|
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
|
rs2136049616
|
|
NM_001384140.1(PCDH15):c.1997+1G>T
|
rs763797356
|
|
NM_001384140.1(PCDH15):c.1998-21GTTT[2]
|
rs763135922
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625
|
|
NM_001384140.1(PCDH15):c.2001G>A (p.Thr667=)
|
rs200699443
|
|
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2042C>G (p.Thr681Ser)
|
|
|
NM_001384140.1(PCDH15):c.2047C>T (p.Arg683Cys)
|
rs573043647
|
|
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter)
|
rs1554956088
|
|
NM_001384140.1(PCDH15):c.2091+1dup
|
rs2539900762
|
|
NM_001384140.1(PCDH15):c.2091+2T>C
|
rs1554956023
|
|
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
|
rs2539768820
|
|
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
|
rs771169423
|
|
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
|
rs2539768291
|
|
NM_001384140.1(PCDH15):c.2127dup (p.Val710fs)
|
|
|
NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile)
|
rs1471005419
|
|
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs)
|
rs2094144598
|
|
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
|
rs2539767058
|
|
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala)
|
rs749438162
|
|
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
|
rs2539766693
|
|
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
|
rs2539766517
|
|
NM_001384140.1(PCDH15):c.2220+2T>C
|
|
|
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu)
|
rs375282189
|
|
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)
|
rs2135322143
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2414dup (p.Leu805fs)
|
|
|
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu)
|
rs397517453
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2500G>T (p.Ala834Ser)
|
|
|
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
|
rs2539201047
|
|
NM_001384140.1(PCDH15):c.2522T>C (p.Ile841Thr)
|
rs567811243
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn)
|
rs2092876050
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_001384140.1(PCDH15):c.2723G>A (p.Gly908Asp)
|
rs746314678
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
NM_001384140.1(PCDH15):c.2751+7G>T
|
rs2092871169
|
|
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
|
rs1564960443
|
|
NM_001384140.1(PCDH15):c.2818_2821dup (p.Lys941fs)
|
|
|
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
|
rs2538938783
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2868+5G>A
|
rs757993503
|
|
NM_001384140.1(PCDH15):c.2869-1G>T
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
|
rs2495140482
|
|
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
|
rs2495137682
|
|
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=)
|
rs762026724
|
|
NM_001384140.1(PCDH15):c.299del (p.Gly100fs)
|
rs1554940316
|
|
NM_001384140.1(PCDH15):c.29del (p.Cys10fs)
|
rs1555135419
|
|
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs)
|
rs1057517284
|
|
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)
|
rs776416750
|
|
NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala)
|
rs2134276764
|
|
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
|
rs2495078256
|
|
NM_001384140.1(PCDH15):c.3042_3045dup (p.Met1016fs)
|
|
|
NM_001384140.1(PCDH15):c.3082del (p.His1028fs)
|
rs1057517325
|
|
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
|
rs2495074114
|
|
NM_001384140.1(PCDH15):c.3122+1G>A
|
rs982893820
|
|
NM_001384140.1(PCDH15):c.3122+2T>A
|
rs1554882546
|
|
NM_001384140.1(PCDH15):c.3123-1G>A
|
rs1554873550
|
|
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
|
rs2494645313
|
|
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
|
rs2494644980
|
|
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg)
|
rs2086006894
|
|
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
|
rs2494643428
|
|
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs)
|
rs1057516974
|
|
NM_001384140.1(PCDH15):c.321A>C (p.Pro107=)
|
rs1345969752
|
|
NM_001384140.1(PCDH15):c.3233-2A>G
|
rs1554872194
|
|
NM_001384140.1(PCDH15):c.323del (p.Pro108fs)
|
rs1554934073
|
|
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)
|
rs1405076980
|
|
NM_001384140.1(PCDH15):c.3313C>A (p.Leu1105Ile)
|
rs1240526910
|
|
NM_001384140.1(PCDH15):c.333dup (p.His112fs)
|
rs1057516992
|
|
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs)
|
rs1057516656
|
|
NM_001384140.1(PCDH15):c.3374-1G>T
|
rs1554852472
|
|
NM_001384140.1(PCDH15):c.3404A>G (p.Gln1135Arg)
|
rs1303595236
|
|
NM_001384140.1(PCDH15):c.3410A>G (p.Glu1137Gly)
|
rs1439470139
|
|
NM_001384140.1(PCDH15):c.3416ATC[1] (p.His1140del)
|
rs1554852410
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=)
|
rs146374856
|
|
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
|
rs2493950607
|
|
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
|
rs2493949917
|
|
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs)
|
rs2133664431
|
|
NM_001384140.1(PCDH15):c.3501+1G>T
|
rs1402893508
|
|
NM_001384140.1(PCDH15):c.3501+2T>C
|
rs757418440
|
|
NM_001384140.1(PCDH15):c.3502-10del
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.3502-13dup
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.3502-14dup
|
rs5785023
|
|
NM_001384140.1(PCDH15):c.3502-2A>G
|
rs1554836566
|
|
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
|
rs2547833358
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
|
rs768989856
|
|
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
|
rs2493336185
|
|
NM_001384140.1(PCDH15):c.3647C>G (p.Ser1216Cys)
|
|
|
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs)
|
rs1057516268
|
|
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)
|
rs2079481708
|
|
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter)
|
rs2079479378
|
|
NM_001384140.1(PCDH15):c.3711T>C (p.Asp1237=)
|
rs61731382
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3718-2A>G
|
rs1307471318
|
|
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs)
|
rs1554833314
|
|
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
|
rs1472644881
|
|
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
|
rs762129852
|
|
NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=)
|
rs2133038894
|
|
NM_001384140.1(PCDH15):c.3782A>C (p.Glu1261Ala)
|
rs201106387
|
|
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
|
rs2493175179
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs)
|
rs1554833242
|
|
NM_001384140.1(PCDH15):c.3797A>C (p.Asp1266Ala)
|
rs2078805937
|
|
NM_001384140.1(PCDH15):c.3806+1G>C
|
rs1554833227
|
|
NM_001384140.1(PCDH15):c.3813G>C (p.Leu1271Phe)
|
rs937214642
|
|
NM_001384140.1(PCDH15):c.3814G>C (p.Asp1272His)
|
rs766636473
|
|
NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys)
|
rs2132762710
|
|
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu)
|
rs375292203
|
|
NM_001384140.1(PCDH15):c.3862T>C (p.Ser1288Pro)
|
rs1554827269
|
|
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs)
|
rs1057516780
|
|
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
|
rs2492843561
|
|
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
|
rs2492843419
|
|
NM_001384140.1(PCDH15):c.394dup (p.Glu132fs)
|
rs397515566
|
|
NM_001384140.1(PCDH15):c.3964G>C (p.Asp1322His)
|
rs1411262816
|
|
NM_001384140.1(PCDH15):c.3983+2dup
|
rs1554827124
|
|
NM_001384140.1(PCDH15):c.3984-1G>C
|
rs1057520709
|
|
NM_001384140.1(PCDH15):c.3984-2A>G
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.3984-6A>G
|
rs2077015569
|
|
NM_001384140.1(PCDH15):c.3987T>G (p.Phe1329Leu)
|
rs2077014769
|
|
NM_001384140.1(PCDH15):c.4006_4008dup (p.Asp1336dup)
|
rs1554824158
|
|
NM_001384140.1(PCDH15):c.400C>A (p.Arg134=)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
|
rs2492659568
|
|
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
|
rs2492658988
|
|
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys)
|
rs1358647851
|
|
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
|
rs2077007633
|
|
NM_001384140.1(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del)
|
rs1394411772
|
|
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.4147del (p.Ile1383fs)
|
rs1554824058
|
|
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs)
|
rs1057517182
|
|
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs)
|
rs1057516821
|
|
NM_001384140.1(PCDH15):c.4202+5G>A
|
rs886047063
|
|
NM_001384140.1(PCDH15):c.4211+1G>A
|
rs1554823229
|
|
NM_001384140.1(PCDH15):c.4211+1del
|
rs1554823231
|
|
NM_001384140.1(PCDH15):c.4211+2dup
|
rs1057517419
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)
|
rs1554822897
|
|
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs)
|
rs1554822891
|
|
NM_001384140.1(PCDH15):c.423T>G (p.Asn141Lys)
|
rs2547832784
|
|
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)
|
rs2134714165
|
|
NM_001384140.1(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del)
|
rs1296979751
|
|
NM_001384140.1(PCDH15):c.4275A>C (p.Ala1425=)
|
rs774100942
|
|
NM_001384140.1(PCDH15):c.4279C>T (p.Pro1427Ser)
|
rs2076761111
|
|
NM_001384140.1(PCDH15):c.4303C>T (p.Pro1435Ser)
|
rs766039931
|
|
NM_001384140.1(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup)
|
rs1327987212
|
|
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=)
|
rs1160719926
|
|
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[4] (p.Pro1443del)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[8] (p.Pro1441_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs)
|
rs1057516351
|
|
NM_001384140.1(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup)
|
rs1554822754
|
|
NM_001384140.1(PCDH15):c.4318C>G (p.Pro1440Ala)
|
rs2076754812
|
|
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
|
rs764861755
|
|
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu)
|
rs767761740
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384140.1(PCDH15):c.4367+2T>C
|
rs1554822703
|
|
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr)
|
rs2076749331
|
|
NM_001384140.1(PCDH15):c.4368-1118T>C
|
rs2076261196
|
|
NM_001384140.1(PCDH15):c.4368-1169A>G
|
rs534928410
|
|
NM_001384140.1(PCDH15):c.4368-1239G>A
|
rs886047055
|
|
NM_001384140.1(PCDH15):c.4368-1360_4368-1359del
|
rs886047056
|
|
NM_001384140.1(PCDH15):c.4368-1481_4368-1478dup
|
rs886047057
|
|
NM_001384140.1(PCDH15):c.4368-1493T>C
|
rs886047058
|
|
NM_001384140.1(PCDH15):c.4368-1501dup
|
rs548021914
|
|
NM_001384140.1(PCDH15):c.4368-1555C>T
|
rs184835185
|
|
NM_001384140.1(PCDH15):c.4368-1896_4368-1893delinsT
|
rs1554819686
|
|
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3]
|
rs1452730552
|
|
NM_001384140.1(PCDH15):c.4368-3205G>A
|
rs776152870
|
|
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
|
rs747663842
|
|
NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys)
|
rs1554816509
|
|
NM_001384140.1(PCDH15):c.4603C>A (p.Pro1535Thr)
|
rs1554816211
|
|
NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu)
|
rs1554816210
|
|
NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter)
|
rs1554816196
|
|
NM_001384140.1(PCDH15):c.4645_4656del (p.Ala1549_Glu1552del)
|
rs1554816165
|
|
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met)
|
rs534173969
|
|
NM_001384140.1(PCDH15):c.4671+1009G>A
|
rs1554815909
|
|
NM_001384140.1(PCDH15):c.4671+1073G>T
|
|
|
NM_001384140.1(PCDH15):c.4671+1077_4671+1082del
|
rs1588876049
|
|
NM_001384140.1(PCDH15):c.4671+1257_4671+1258del
|
rs1554815781
|
|
NM_001384140.1(PCDH15):c.4671+1297_4671+1300dup
|
rs1343032451
|
|
NM_001384140.1(PCDH15):c.4671+1355_4671+1359dup
|
rs1588874677
|
|
NM_001384140.1(PCDH15):c.4671+1393G>C
|
rs2492119549
|
|
NM_001384140.1(PCDH15):c.4671+1403GAG[5]
|
rs1272584101
|
|
NM_001384140.1(PCDH15):c.4671+1412G>T
|
rs1467453189
|
|
NM_001384140.1(PCDH15):c.4671+1420del
|
rs778088114
|
|
NM_001384140.1(PCDH15):c.4671+1511_4671+1519del
|
rs1554815654
|
|
NM_001384140.1(PCDH15):c.4671+1550C>T
|
rs765589050
|
|
NM_001384140.1(PCDH15):c.4671+1564del
|
rs2075764795
|
|
NM_001384140.1(PCDH15):c.4671+1577GAA[3]
|
rs774006219
|
|
NM_001384140.1(PCDH15):c.4671+1617_4671+1637del
|
rs769671738
|
|
NM_001384140.1(PCDH15):c.4671+1708_4671+1711dup
|
rs1554815534
|
|
NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup
|
rs373720521
|
|
NM_001384140.1(PCDH15):c.4672-1648_4672-1644dup
|
rs1554815468
|
|
NM_001384140.1(PCDH15):c.4672-1662del
|
rs1554815484
|
|
NM_001384140.1(PCDH15):c.4672-1666G>T
|
rs1297423576
|
|
NM_001384140.1(PCDH15):c.4672-1709_4672-1706dup
|
rs1554815527
|
|
NM_001384140.1(PCDH15):c.4672-1712_4672-1710del
|
rs2132368553
|
|
NM_001384140.1(PCDH15):c.4672-2A>G
|
rs1554814991
|
|
NM_001384140.1(PCDH15):c.4688_4691dup (p.Lys1565fs)
|
rs1589057333
|
|
NM_001384140.1(PCDH15):c.4722del (p.Ser1575fs)
|
rs778963761
|
|
NM_001384140.1(PCDH15):c.4729_4734dup (p.Thr1577_Gly1578dup)
|
rs1554814938
|
|
NM_001384140.1(PCDH15):c.4739_4742dup (p.Ser1581fs)
|
rs1554814927
|
|
NM_001384140.1(PCDH15):c.475-2204_594+1766del
|
|
|
NM_001384140.1(PCDH15):c.4809_4827dup (p.Ser1610fs)
|
rs2492076748
|
|
NM_001384140.1(PCDH15):c.4828_4835del (p.Ser1610fs)
|
rs750833316
|
|
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala)
|
rs775845546
|
|
NM_001384140.1(PCDH15):c.4843C>T (p.Arg1615Cys)
|
|
|
NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs)
|
rs757520086
|
|
NM_001384140.1(PCDH15):c.4914del (p.Asp1639fs)
|
rs1554814800
|
|
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs)
|
rs570460962
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)
|
rs1554814729
|
|
NM_001384140.1(PCDH15):c.5082_5089del (p.Ser1694fs)
|
rs1554814684
|
|
NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs)
|
rs1320916581
|
|
NM_001384140.1(PCDH15):c.5092C>T (p.Gln1698Ter)
|
rs1554814683
|
|
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer)
|
rs770322907
|
|
NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs)
|
rs1554814669
|
|
NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del)
|
rs1554814635
|
|
NM_001384140.1(PCDH15):c.5160_5163dup (p.Asp1722Ter)
|
rs2492070590
|
|
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs)
|
rs2134175729
|
|
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)
|
rs1943286459
|
|
NM_001384140.1(PCDH15):c.594+1G>T
|
rs1057516470
|
|
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)
|
rs2135421905
|
|
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
|
rs2549545213
|
|
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter)
|
rs1554903979
|
|
NM_001384140.1(PCDH15):c.705+1G>A
|
rs1554903842
|
|
NM_001384140.1(PCDH15):c.705+2_705+3insTT
|
rs1554903836
|
|
NM_001384140.1(PCDH15):c.705+5G>A
|
rs2547624796
|
|
NM_001384140.1(PCDH15):c.705T>C (p.Asn235=)
|
rs112059717
|
|
NM_001384140.1(PCDH15):c.706-17_706-14del
|
rs886047068
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
|
rs2541282849
|
|
NM_001384140.1(PCDH15):c.780C>G (p.Asp260Glu)
|
|
|
NM_001384140.1(PCDH15):c.803G>A (p.Cys268Tyr)
|
rs1283739647
|
|
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
|
rs2541280442
|
|
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
|
rs2541279278
|
|
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)
|
rs903145299
|
|
NM_001384140.1(PCDH15):c.851C>T (p.Ala284Val)
|
rs777071595
|
|
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)
|
rs138744579
|
|
NM_001384140.1(PCDH15):c.876+1G>C
|
rs2133646979
|
|
NM_001384140.1(PCDH15):c.876+7A>G
|
rs1435301478
|
|
NM_001384140.1(PCDH15):c.880G>T (p.Glu294Ter)
|
|
|
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048
|
|
NM_001384140.1(PCDH15):c.92-515T>G
|
rs1283842168
|
|
NM_001384140.1(PCDH15):c.945G>A (p.Pro315=)
|
rs150450873
|
|
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe)
|
rs145011716
|
|
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
|
rs1166198215
|
|
NM_001692.4(ATP6V1B1):c.1025T>G (p.Ile342Ser)
|
rs2104831947
|
|
NM_002109.6(HARS1):c.1000G>A (p.Val334Met)
|
rs1554106875
|
|
NM_002109.6(HARS1):c.1004T>C (p.Ile335Thr)
|
|
|
NM_002109.6(HARS1):c.1007A>G (p.Tyr336Cys)
|
rs2149823058
|
|
NM_002109.6(HARS1):c.1008T>C (p.Tyr336=)
|
rs2481247736
|
|
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)
|
rs1370029240
|
|
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter)
|
rs1370029240
|
|
NM_002109.6(HARS1):c.101A>T (p.Glu34Val)
|
rs2481339347
|
|
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile)
|
rs1562005331
|
|
NM_002109.6(HARS1):c.1029C>T (p.Thr343=)
|
rs1758398047
|
|
NM_002109.6(HARS1):c.1034C>A (p.Ala345Asp)
|
rs771009808
|
|
NM_002109.6(HARS1):c.1039G>A (p.Ala347Thr)
|
|
|
NM_002109.6(HARS1):c.103G>T (p.Val35Leu)
|
|
|
NM_002109.6(HARS1):c.1040C>T (p.Ala347Val)
|
rs2481247370
|
|
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys)
|
rs1371763515
|
|
NM_002109.6(HARS1):c.1047A>G (p.Glu349=)
|
rs1581504369
|
|
NM_002109.6(HARS1):c.1048G>T (p.Glu350Ter)
|
rs2481247309
|
|
NM_002109.6(HARS1):c.104T>C (p.Val35Ala)
|
rs1581532058
|
|
NM_002109.6(HARS1):c.1052C>T (p.Pro351Leu)
|
rs1758395666
|
|
NM_002109.6(HARS1):c.1053C>G (p.Pro351=)
|
rs1435212159
|
|
NM_002109.6(HARS1):c.1055T>G (p.Leu352Arg)
|
rs1426833293
|
|
NM_002109.6(HARS1):c.1056G>A (p.Leu352=)
|
rs1758394745
|
|
NM_002109.6(HARS1):c.1058G>C (p.Gly353Ala)
|
rs1464150154
|
|
NM_002109.6(HARS1):c.105G>A (p.Val35=)
|
rs2149845187
|
|
NM_002109.6(HARS1):c.1061_1062del (p.Val354fs)
|
rs2481247140
|
|
NM_002109.6(HARS1):c.1075G>T (p.Ala359Ser)
|
rs1562005042
|
|
NM_002109.6(HARS1):c.1076C>A (p.Ala359Asp)
|
rs1313670595
|
|
NM_002109.6(HARS1):c.1088A>G (p.Tyr363Cys)
|
rs1402131324
|
|
NM_002109.6(HARS1):c.108G>A (p.Ala36=)
|
rs771625842
|
|
NM_002109.6(HARS1):c.1090G>C (p.Asp364His)
|
rs863225124
|
|
NM_002109.6(HARS1):c.1093G>A (p.Gly365Arg)
|
rs1758389887
|
|
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)
|
rs753104645
|
|
NM_002109.6(HARS1):c.1131del (p.Pro378fs)
|
rs2149822729
|
|
NM_002109.6(HARS1):c.1136G>A (p.Cys379Tyr)
|
rs1758384765
|
|
NM_002109.6(HARS1):c.1150A>G (p.Ile384Val)
|
rs768703211
|
|
NM_002109.6(HARS1):c.1150A>T (p.Ile384Phe)
|
rs768703211
|
|
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
|
rs1758381320
|
|
NM_002109.6(HARS1):c.1152dup (p.Gly385fs)
|
|
|
NM_002109.6(HARS1):c.1158G>T (p.Val386=)
|
rs2149822667
|
|
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys)
|
rs1758380241
|
|
NM_002109.6(HARS1):c.115C>A (p.Leu39Met)
|
|
|
NM_002109.6(HARS1):c.115C>G (p.Leu39Val)
|
rs201729757
|
|
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly)
|
rs1581503971
|
|
NM_002109.6(HARS1):c.1170C>A (p.Phe390Leu)
|
|
|
NM_002109.6(HARS1):c.1185G>A (p.Gln395=)
|
|
|
NM_002109.6(HARS1):c.1185G>C (p.Gln395His)
|
rs546882914
|
|
NM_002109.6(HARS1):c.1186A>G (p.Arg396Gly)
|
rs2149822607
|
|
NM_002109.6(HARS1):c.1191del (p.Glu398fs)
|
|
|
NM_002109.6(HARS1):c.1194+18G>A
|
rs988352231
|
|
NM_002109.6(HARS1):c.1195-14T>A
|
rs2481236708
|
|
NM_002109.6(HARS1):c.1195-9_1195-8delinsTA
|
rs2481236658
|
|
NM_002109.6(HARS1):c.1195G>T (p.Ala399Ser)
|
rs1562001863
|
|
NM_002109.6(HARS1):c.1200G>T (p.Leu400Phe)
|
rs1758288242
|
|
NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln)
|
rs552434037
|
|
NM_002109.6(HARS1):c.1213C>T (p.Arg405Trp)
|
rs908109064
|
|
NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln)
|
rs147185134
|
|
NM_002109.6(HARS1):c.1214G>C (p.Arg405Pro)
|
rs147185134
|
|
NM_002109.6(HARS1):c.1225A>G (p.Thr409Ala)
|
rs2481236081
|
|
NM_002109.6(HARS1):c.1234C>G (p.Leu412Val)
|
|
|
NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del)
|
rs779289896
|
|
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)
|
rs1758283199
|
|
NM_002109.6(HARS1):c.1256A>G (p.Lys419Arg)
|
rs777282804
|
|
NM_002109.6(HARS1):c.1258C>G (p.Leu420Val)
|
rs2481235793
|
|
NM_002109.6(HARS1):c.1260G>A (p.Leu420=)
|
|
|
NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys)
|
rs1010687306
|
|
NM_002109.6(HARS1):c.1311+10G>A
|
rs2481234992
|
|
NM_002109.6(HARS1):c.1311+19A>C
|
|
|
NM_002109.6(HARS1):c.1311+7G>A
|
|
|
NM_002109.6(HARS1):c.1311+8A>C
|
rs1402724979
|
|
NM_002109.6(HARS1):c.1311+8A>T
|
|
|
NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA
|
rs2149819821
|
|
NM_002109.6(HARS1):c.1312-11G>A
|
rs1340964519
|
|
NM_002109.6(HARS1):c.1312-14C>G
|
|
|
NM_002109.6(HARS1):c.1312-1G>A
|
|
|
NM_002109.6(HARS1):c.1326C>T (p.Tyr442=)
|
rs2149819731
|
|
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del)
|
rs756193571
|
|
NM_002109.6(HARS1):c.1344A>G (p.Leu448=)
|
rs1758261367
|
|
NM_002109.6(HARS1):c.1358A>G (p.Gln453Arg)
|
rs2149819642
|
|
NM_002109.6(HARS1):c.1362C>T (p.Tyr454=)
|
rs2481232505
|
|
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)
|
rs754304255
|
|
NM_002109.6(HARS1):c.1396A>G (p.Ile466Val)
|
|
|
NM_002109.6(HARS1):c.1401C>G (p.Gly467=)
|
|
|
NM_002109.6(HARS1):c.1406A>C (p.Gln469Pro)
|
rs761312210
|
|
NM_002109.6(HARS1):c.1410A>G (p.Glu470=)
|
rs764911936
|
|
NM_002109.6(HARS1):c.1414A>G (p.Lys472Glu)
|
rs1758254824
|
|
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
|
rs971012132
|
|
NM_002109.6(HARS1):c.1429A>G (p.Lys477Glu)
|
rs2149819440
|
|
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)
|
rs1759376273
|
|
NM_002109.6(HARS1):c.1435C>T (p.Arg479Cys)
|
rs768174431
|
|
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)
|
rs1581500046
|
|
NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg)
|
rs147372931
|
|
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met)
|
rs147372931
|
|
NM_002109.6(HARS1):c.1447A>G (p.Ser483Gly)
|
rs2149819356
|
|
NM_002109.6(HARS1):c.1448G>A (p.Ser483Asn)
|
rs2149819348
|
|
NM_002109.6(HARS1):c.1453G>A (p.Glu485Lys)
|
rs2481231364
|
|
NM_002109.6(HARS1):c.1458+17G>A
|
rs1758248338
|
|
NM_002109.6(HARS1):c.1459-16C>T
|
rs1407995308
|
|
NM_002109.6(HARS1):c.1459-17_1459-15del
|
rs757061032
|
|
NM_002109.6(HARS1):c.1459-1G>C
|
rs1300317175
|
|
NM_002109.6(HARS1):c.1459G>A (p.Val487Met)
|
rs2481227779
|
|
NM_002109.6(HARS1):c.145G>A (p.Glu49Lys)
|
rs2481338777
|
|
NM_002109.6(HARS1):c.1461G>A (p.Val487=)
|
rs931036155
|
|
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)
|
rs1295541335
|
|
NM_002109.6(HARS1):c.1479C>G (p.Asp493Glu)
|
rs1366581698
|
|
NM_002109.6(HARS1):c.1479C>T (p.Asp493=)
|
rs1366581698
|
|
NM_002109.6(HARS1):c.1486G>C (p.Glu496Gln)
|
rs2481227365
|
|
NM_002109.6(HARS1):c.148A>C (p.Ser50Arg)
|
rs2481338749
|
|
NM_002109.6(HARS1):c.1492A>G (p.Ile498Val)
|
rs2149818483
|
|
NM_002109.6(HARS1):c.1495A>T (p.Lys499Ter)
|
rs2481227267
|
|
NM_002109.6(HARS1):c.1499G>A (p.Arg500Lys)
|
rs2481227218
|
|
NM_002109.6(HARS1):c.149G>A (p.Ser50Asn)
|
rs1759375841
|
|
NM_002109.6(HARS1):c.1505_1506dup (p.Gly503fs)
|
rs2481227114
|
|
NM_002109.6(HARS1):c.1508G>T (p.Gly503Val)
|
rs781414119
|
|
NM_002109.6(HARS1):c.1510C>T (p.Gln504Ter)
|
rs2149818394
|
|
NM_002109.6(HARS1):c.1513C>T (p.Pro505Ser)
|
|
|
NM_002109.6(HARS1):c.1516dup (p.Leu506fs)
|
|
|
NM_002109.6(HARS1):c.159A>G (p.Lys53=)
|
rs1759375118
|
|
NM_002109.6(HARS1):c.170A>G (p.Lys57Arg)
|
rs1486367666
|
|
NM_002109.6(HARS1):c.172A>G (p.Thr58Ala)
|
|
|
NM_002109.6(HARS1):c.173C>T (p.Thr58Ile)
|
rs2481338418
|
|
NM_002109.6(HARS1):c.174C>A (p.Thr58=)
|
rs761695061
|
|
NM_002109.6(HARS1):c.174C>G (p.Thr58=)
|
rs761695061
|
|
NM_002109.6(HARS1):c.175C>T (p.Pro59Ser)
|
rs1759373051
|
|
NM_002109.6(HARS1):c.177C>T (p.Pro59=)
|
rs2149844924
|
|
NM_002109.6(HARS1):c.178A>C (p.Lys60Gln)
|
rs2481338279
|
|
NM_002109.6(HARS1):c.180+10T>C
|
rs2481338078
|
|
NM_002109.6(HARS1):c.180+12C>T
|
rs554963821
|
|
NM_002109.6(HARS1):c.180+16T>G
|
rs2149844870
|
|
NM_002109.6(HARS1):c.180+18G>A
|
|
|
NM_002109.6(HARS1):c.180+18G>C
|
|
|
NM_002109.6(HARS1):c.180+20G>C
|
rs376700027
|
|
NM_002109.6(HARS1):c.180+4A>T
|
rs2149844902
|
|
NM_002109.6(HARS1):c.180+8C>A
|
rs1759371863
|
|
NM_002109.6(HARS1):c.180G>A (p.Lys60=)
|
rs2481338207
|
|
NM_002109.6(HARS1):c.181-16T>C
|
rs2481291853
|
|
NM_002109.6(HARS1):c.181-8A>C
|
rs2149832909
|
|
NM_002109.6(HARS1):c.192_198delinsACTG (p.Asp64_Ser66delinsGluLeu)
|
rs2481291540
|
|
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser)
|
rs1581516557
|
|
NM_002109.6(HARS1):c.200C>T (p.Pro67Leu)
|
rs1758824887
|
|
NM_002109.6(HARS1):c.205C>T (p.Gln69Ter)
|
rs906500515
|
|
NM_002109.6(HARS1):c.223_225del (p.Lys75del)
|
rs1185763867
|
|
NM_002109.6(HARS1):c.241A>G (p.Ile81Val)
|
rs1758821449
|
|
NM_002109.6(HARS1):c.245G>C (p.Arg82Pro)
|
rs747494880
|
|
NM_002109.6(HARS1):c.261C>G (p.His87Gln)
|
rs181930530
|
|
NM_002109.6(HARS1):c.261_267del (p.His87fs)
|
|
|
NM_002109.6(HARS1):c.280A>G (p.Thr94Ala)
|
rs2481290735
|
|
NM_002109.6(HARS1):c.286G>A (p.Val96Ile)
|
rs1758818774
|
|
NM_002109.6(HARS1):c.286_287delinsTA (p.Val96Ter)
|
rs1758818618
|
|
NM_002109.6(HARS1):c.28C>G (p.Leu10Val)
|
rs767785210
|
|
NM_002109.6(HARS1):c.2T>C (p.Met1Thr)
|
rs1759420438
|
|
NM_002109.6(HARS1):c.300+138G>A
|
rs2530239
|
|
NM_002109.6(HARS1):c.300+138G>C
|
rs2530239
|
|
NM_002109.6(HARS1):c.300+4del
|
rs2481290521
|
|
NM_002109.6(HARS1):c.300+6G>A
|
rs756096397
|
|
NM_002109.6(HARS1):c.300+9T>C
|
rs2481290471
|
|
NM_002109.6(HARS1):c.300G>A (p.Lys100=)
|
rs2481290582
|
|
NM_002109.6(HARS1):c.31G>T (p.Val11Leu)
|
|
|
NM_002109.6(HARS1):c.325dup (p.Glu109fs)
|
|
|
NM_002109.6(HARS1):c.349C>G (p.Leu117Val)
|
rs1758613182
|
|
NM_002109.6(HARS1):c.352_375del (p.Lys118_Leu125del)
|
rs2149827873
|
|
NM_002109.6(HARS1):c.355G>T (p.Asp119Tyr)
|
rs1758612647
|
|
NM_002109.6(HARS1):c.363C>T (p.Gly121=)
|
rs372293095
|
|
NM_002109.6(HARS1):c.364G>T (p.Gly122Trp)
|
rs749493279
|
|
NM_002109.6(HARS1):c.368A>C (p.Glu123Ala)
|
rs2149827896
|
|
NM_002109.6(HARS1):c.369G>T (p.Glu123Asp)
|
rs2149827889
|
|
NM_002109.6(HARS1):c.370C>T (p.Leu124Phe)
|
|
|
NM_002109.6(HARS1):c.388G>A (p.Asp130Asn)
|
rs2481271435
|
|
NM_002109.6(HARS1):c.390C>T (p.Asp130=)
|
rs754863405
|
|
NM_002109.6(HARS1):c.391C>T (p.Leu131Phe)
|
rs2481271404
|
|
NM_002109.6(HARS1):c.392T>G (p.Leu131Arg)
|
rs2481271395
|
|
NM_002109.6(HARS1):c.396+14C>T
|
rs1319381924
|
|
NM_002109.6(HARS1):c.397-10T>C
|
|
|
NM_002109.6(HARS1):c.397-10_397-9del
|
rs886060020
|
|
NM_002109.6(HARS1):c.397-12C>G
|
rs2149826975
|
|
NM_002109.6(HARS1):c.397-8G>C
|
|
|
NM_002109.6(HARS1):c.398T>A (p.Val133Asp)
|
rs2149826951
|
|
NM_002109.6(HARS1):c.398T>C (p.Val133Ala)
|
rs2149826951
|
|
NM_002109.6(HARS1):c.401C>G (p.Pro134Arg)
|
rs863225122
|
|
NM_002109.6(HARS1):c.423G>T (p.Met141Ile)
|
rs2481266603
|
|
NM_002109.6(HARS1):c.437_439dup (p.Asn146dup)
|
rs755088410
|
|
NM_002109.6(HARS1):c.440T>C (p.Ile147Thr)
|
rs2481266443
|
|
NM_002109.6(HARS1):c.443_444dup (p.Arg149fs)
|
rs2481266424
|
|
NM_002109.6(HARS1):c.454A>G (p.Ile152Val)
|
rs2481266281
|
|
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser)
|
rs746887565
|
|
NM_002109.6(HARS1):c.464T>G (p.Val155Gly)
|
rs1239341211
|
|
NM_002109.6(HARS1):c.465A>G (p.Val155=)
|
rs1202503765
|
|
NM_002109.6(HARS1):c.465A>T (p.Val155=)
|
rs1202503765
|
|
NM_002109.6(HARS1):c.467A>G (p.Tyr156Cys)
|
rs2481266146
|
|
NM_002109.6(HARS1):c.473G>A (p.Arg158Gln)
|
rs1274278544
|
|
NM_002109.6(HARS1):c.480C>T (p.Asn160=)
|
rs920668707
|
|
NM_002109.6(HARS1):c.485C>T (p.Ala162Val)
|
rs753448470
|
|
NM_002109.6(HARS1):c.489G>A (p.Met163Ile)
|
rs2481265980
|
|
NM_002109.6(HARS1):c.490A>T (p.Thr164Ser)
|
|
|
NM_002109.6(HARS1):c.495T>G (p.Arg165=)
|
|
|
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)
|
rs1759420210
|
|
NM_002109.6(HARS1):c.4del (p.Ala2fs)
|
rs2481344958
|
|
NM_002109.6(HARS1):c.505C>T (p.Arg169Trp)
|
rs748357038
|
|
NM_002109.6(HARS1):c.507G>A (p.Arg169=)
|
rs2149826709
|
|
NM_002109.6(HARS1):c.507G>C (p.Arg169=)
|
|
|
NM_002109.6(HARS1):c.50G>T (p.Arg17Leu)
|
|
|
NM_002109.6(HARS1):c.510A>G (p.Glu170=)
|
|
|
NM_002109.6(HARS1):c.515A>G (p.Tyr172Cys)
|
rs2481265710
|
|
NM_002109.6(HARS1):c.519G>A (p.Gln173=)
|
rs1131045
|
|
NM_002109.6(HARS1):c.523-13C>A
|
rs2481259665
|
|
NM_002109.6(HARS1):c.523-18C>T
|
rs1483882877
|
|
NM_002109.6(HARS1):c.523-20G>A
|
rs1758495385
|
|
NM_002109.6(HARS1):c.523-4G>A
|
rs772194599
|
|
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
|
rs1758491184
|
|
NM_002109.6(HARS1):c.552C>T (p.Pro184=)
|
rs2481259184
|
|
NM_002109.6(HARS1):c.553A>T (p.Met185Leu)
|
rs1387154351
|
|
NM_002109.6(HARS1):c.561T>C (p.Pro187=)
|
rs2149825285
|
|
NM_002109.6(HARS1):c.581T>C (p.Ile194Thr)
|
rs1758488093
|
|
NM_002109.6(HARS1):c.584T>C (p.Met195Thr)
|
rs2149825219
|
|
NM_002109.6(HARS1):c.589G>A (p.Glu197Lys)
|
rs747711899
|
|
NM_002109.6(HARS1):c.589G>C (p.Glu197Gln)
|
rs747711899
|
|
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter)
|
rs780654800
|
|
NM_002109.6(HARS1):c.611T>C (p.Ile204Thr)
|
rs2481258654
|
|
NM_002109.6(HARS1):c.612A>G (p.Ile204Met)
|
rs1562008815
|
|
NM_002109.6(HARS1):c.616G>A (p.Asp206Asn)
|
rs1131040
|
|
NM_002109.6(HARS1):c.627C>T (p.Val209=)
|
rs960026937
|
|
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
|
rs1759411593
|
|
NM_002109.6(HARS1):c.630+7G>A
|
rs2481258327
|
|
NM_002109.6(HARS1):c.630+8C>G
|
rs1021221934
|
|
NM_002109.6(HARS1):c.630+8C>T
|
rs1021221934
|
|
NM_002109.6(HARS1):c.631-13T>C
|
rs754213668
|
|
NM_002109.6(HARS1):c.631-18T>G
|
rs1321179696
|
|
NM_002109.6(HARS1):c.631-3C>A
|
|
|
NM_002109.6(HARS1):c.631-3C>T
|
rs533067917
|
|
NM_002109.6(HARS1):c.631-9T>G
|
rs2149824827
|
|
NM_002109.6(HARS1):c.636C>T (p.Asn212=)
|
rs1131039
|
|
NM_002109.6(HARS1):c.637G>T (p.Asp213Tyr)
|
rs759634200
|
|
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)
|
rs1562008284
|
|
NM_002109.6(HARS1):c.640C>A (p.Arg214=)
|
rs377006157
|
|
NM_002109.6(HARS1):c.640C>T (p.Arg214Ter)
|
rs377006157
|
|
NM_002109.6(HARS1):c.654T>C (p.Asp218=)
|
|
|
NM_002109.6(HARS1):c.660G>A (p.Met220Ile)
|
rs2149824722
|
|
NM_002109.6(HARS1):c.662T>C (p.Phe221Ser)
|
rs2149824713
|
|
NM_002109.6(HARS1):c.664G>A (p.Ala222Thr)
|
rs2481256559
|
|
NM_002109.6(HARS1):c.672_673del (p.Cys224fs)
|
rs1758469143
|
|
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)
|
rs1758468780
|
|
NM_002109.6(HARS1):c.684C>A (p.Asp228Glu)
|
|
|
NM_002109.6(HARS1):c.689A>G (p.Lys230Arg)
|
rs1416014791
|
|
NM_002109.6(HARS1):c.690G>A (p.Lys230=)
|
rs768157379
|
|
NM_002109.6(HARS1):c.693C>G (p.Phe231Leu)
|
rs868835568
|
|
NM_002109.6(HARS1):c.695G>T (p.Arg232Leu)
|
rs550778711
|
|
NM_002109.6(HARS1):c.706T>C (p.Ser236Pro)
|
|
|
NM_002109.6(HARS1):c.714A>G (p.Val238=)
|
rs1131037
|
|
NM_002109.6(HARS1):c.723G>A (p.Leu241=)
|
rs1131036
|
|
NM_002109.6(HARS1):c.729+10C>T
|
rs2481255323
|
|
NM_002109.6(HARS1):c.729+15A>T
|
rs2481255295
|
|
NM_002109.6(HARS1):c.729+16C>T
|
rs1581506337
|
|
NM_002109.6(HARS1):c.729+20A>G
|
rs755251398
|
|
NM_002109.6(HARS1):c.730-10G>A
|
rs1581505929
|
|
NM_002109.6(HARS1):c.730-10G>C
|
rs1581505929
|
|
NM_002109.6(HARS1):c.730-12C>G
|
rs2149824191
|
|
NM_002109.6(HARS1):c.730-20A>G
|
rs2481253331
|
|
NM_002109.6(HARS1):c.730-2A>G
|
rs773800588
|
|
NM_002109.6(HARS1):c.730G>A (p.Val244Met)
|
rs770291420
|
|
NM_002109.6(HARS1):c.732G>T (p.Val244=)
|
|
|
NM_002109.6(HARS1):c.747G>A (p.Val249=)
|
|
|
NM_002109.6(HARS1):c.752A>C (p.Asn251Thr)
|
rs748594458
|
|
NM_002109.6(HARS1):c.762G>A (p.Val254=)
|
rs2481252794
|
|
NM_002109.6(HARS1):c.771G>A (p.Lys257=)
|
rs1758443206
|
|
NM_002109.6(HARS1):c.774C>T (p.Gly258=)
|
rs2481252616
|
|
NM_002109.6(HARS1):c.783T>G (p.Pro261=)
|
rs1050248
|
|
NM_002109.6(HARS1):c.784G>A (p.Glu262Lys)
|
rs1758442472
|
|
NM_002109.6(HARS1):c.795C>G (p.Asp265Glu)
|
rs1050247
|
|
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)
|
rs765223763
|
|
NM_002109.6(HARS1):c.79A>G (p.Ser27Gly)
|
|
|
NM_002109.6(HARS1):c.801T>G (p.Ile267Met)
|
rs2481252365
|
|
NM_002109.6(HARS1):c.802G>C (p.Gly268Arg)
|
rs2149823964
|
|
NM_002109.6(HARS1):c.804G>A (p.Gly268=)
|
rs2481252341
|
|
NM_002109.6(HARS1):c.80G>A (p.Ser27Asn)
|
rs2481343717
|
|
NM_002109.6(HARS1):c.810T>C (p.Tyr270=)
|
rs201511773
|
|
NM_002109.6(HARS1):c.815A>G (p.Gln272Arg)
|
rs2481252198
|
|
NM_002109.6(HARS1):c.823+6G>C
|
rs1758439013
|
|
NM_002109.6(HARS1):c.824-10G>C
|
rs2481250211
|
|
NM_002109.6(HARS1):c.824-1G>A
|
rs2481250106
|
|
NM_002109.6(HARS1):c.826G>C (p.Gly276Arg)
|
rs2149823561
|
|
NM_002109.6(HARS1):c.827G>T (p.Gly276Val)
|
rs1758422709
|
|
NM_002109.6(HARS1):c.829G>T (p.Val277Leu)
|
rs763899763
|
|
NM_002109.6(HARS1):c.834C>A (p.Ser278=)
|
|
|
NM_002109.6(HARS1):c.836T>A (p.Leu279Gln)
|
rs2481249988
|
|
NM_002109.6(HARS1):c.840G>A (p.Val280=)
|
rs1275864095
|
|
NM_002109.6(HARS1):c.855G>A (p.Gln285=)
|
rs1343896862
|
|
NM_002109.6(HARS1):c.856G>A (p.Asp286Asn)
|
rs2481249746
|
|
NM_002109.6(HARS1):c.856G>C (p.Asp286His)
|
rs2481249746
|
|
NM_002109.6(HARS1):c.862A>C (p.Lys288Gln)
|
|
|
NM_002109.6(HARS1):c.862A>G (p.Lys288Glu)
|
rs1002771462
|
|
NM_002109.6(HARS1):c.868T>C (p.Ser290Pro)
|
|
|
NM_002109.6(HARS1):c.86A>T (p.Glu29Val)
|
rs2481343606
|
|
NM_002109.6(HARS1):c.880C>A (p.Gln294Lys)
|
rs1379178692
|
|
NM_002109.6(HARS1):c.882G>A (p.Gln294=)
|
rs1758417684
|
|
NM_002109.6(HARS1):c.885C>G (p.Ala295=)
|
rs2149823444
|
|
NM_002109.6(HARS1):c.885C>T (p.Ala295=)
|
rs2149823444
|
|
NM_002109.6(HARS1):c.888G>T (p.Leu296Phe)
|
rs2481249523
|
|
NM_002109.6(HARS1):c.891G>A (p.Glu297=)
|
rs2481249495
|
|
NM_002109.6(HARS1):c.895C>G (p.Leu299Val)
|
|
|
NM_002109.6(HARS1):c.897G>C (p.Leu299=)
|
rs2149823428
|
|
NM_002109.6(HARS1):c.89T>G (p.Leu30Arg)
|
rs2149845950
|
|
NM_002109.6(HARS1):c.90+11G>A
|
rs903786538
|
|
NM_002109.6(HARS1):c.90+17del
|
rs2149845881
|
|
NM_002109.6(HARS1):c.90+18G>A
|
rs749824202
|
|
NM_002109.6(HARS1):c.90+1G>A
|
rs1554109203
|
|
NM_002109.6(HARS1):c.90+1G>C
|
rs1554109203
|
|
NM_002109.6(HARS1):c.90+3G>A
|
rs1759409258
|
|
NM_002109.6(HARS1):c.90+5G>A
|
rs768353479
|
|
NM_002109.6(HARS1):c.903C>A (p.Asp301Glu)
|
rs146835587
|
|
NM_002109.6(HARS1):c.91-17del
|
rs543418150
|
|
NM_002109.6(HARS1):c.91-7T>C
|
rs2149845275
|
|
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del)
|
rs794727969
|
|
NM_002109.6(HARS1):c.924C>T (p.Tyr308=)
|
rs2149823372
|
|
NM_002109.6(HARS1):c.929C>A (p.Thr310Asn)
|
|
|
NM_002109.6(HARS1):c.938G>C (p.Gly313Ala)
|
|
|
NM_002109.6(HARS1):c.93C>T (p.Ile31=)
|
rs768408406
|
|
NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe)
|
rs2481249042
|
|
NM_002109.6(HARS1):c.951+10G>A
|
|
|
NM_002109.6(HARS1):c.952-4A>G
|
rs780815128
|
|
NM_002109.6(HARS1):c.952-8C>A
|
|
|
NM_002109.6(HARS1):c.952A>T (p.Ile318Phe)
|
rs2481248285
|
|
NM_002109.6(HARS1):c.954C>A (p.Ile318=)
|
|
|
NM_002109.6(HARS1):c.954C>T (p.Ile318=)
|
rs1758406223
|
|
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del)
|
rs962526639
|
|
NM_002109.6(HARS1):c.963C>T (p.Asp321=)
|
rs1267161123
|
|
NM_002109.6(HARS1):c.969C>T (p.Ser323=)
|
|
|
NM_002109.6(HARS1):c.976C>A (p.Arg326=)
|
rs1248042019
|
|
NM_002109.6(HARS1):c.976C>T (p.Arg326Ter)
|
rs1248042019
|
|
NM_002109.6(HARS1):c.977G>A (p.Arg326Gln)
|
rs765994836
|
|
NM_002109.6(HARS1):c.981G>T (p.Gly327=)
|
rs1758401892
|
|
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys)
|
rs1554106881
|
|
NM_002109.6(HARS1):c.999G>A (p.Gly333=)
|
|
|
NM_004086.3(COCH):c.731C>T (p.Thr244Ile)
|
rs750832640
|
|
NM_005709.4(USH1C):c.1211-5_1232delinsCGG
|
|
|
NM_005709.4(USH1C):c.1216C>T (p.Gln406Ter)
|
|
|
NM_005709.4(USH1C):c.1218G>T (p.Gln406His)
|
rs928672021
|
|
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)
|
rs143923730
|
|
NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala)
|
rs143923730
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg)
|
rs746527367
|
|
NM_005709.4(USH1C):c.1284+5347_1284+5350del
|
rs2497073190
|
|
NM_005709.4(USH1C):c.1284+6880del
|
rs745622612
|
|
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)
|
rs1560449207
|
|
NM_006017.3(PROM1):c.1983+5G>T
|
rs1560421595
|
|
NM_006314.3(CNKSR1):c.851del (p.Pro284fs)
|
rs781114848
|
|
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)
|
rs145415848
|
|
NM_006383.4(CIB2):c.401G>T (p.Arg134Leu)
|
rs199819065
|
|
NM_006383.4(CIB2):c.476_479del (p.Asp159fs)
|
rs1567047642
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)
|
rs749314857
|
|
NM_015404.4(WHRN):c.*29T>G
|
rs760640463
|
|
NM_015404.4(WHRN):c.*325dup
|
rs886063369
|
|
NM_015404.4(WHRN):c.*357C>G
|
rs886063368
|
|
NM_015404.4(WHRN):c.*495T>C
|
rs954067626
|
|
NM_015404.4(WHRN):c.*633T>C
|
rs886063366
|
|
NM_015404.4(WHRN):c.-269C>A
|
rs551952938
|
|
NM_015404.4(WHRN):c.-310G>T
|
rs1844288269
|
|
NM_015404.4(WHRN):c.-517C>T
|
rs886063376
|
|
NM_015404.4(WHRN):c.-608_-601del
|
rs150944893
|
|
NM_015404.4(WHRN):c.1014A>G (p.Leu338=)
|
rs886063373
|
|
NM_015404.4(WHRN):c.1389G>T (p.Leu463=)
|
rs748769354
|
|
NM_015404.4(WHRN):c.1584dup (p.Thr529fs)
|
|
|
NM_015404.4(WHRN):c.1627-7T>G
|
rs1835163569
|
|
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro)
|
rs775066754
|
|
NM_015404.4(WHRN):c.1817del (p.Asp606fs)
|
rs2491530582
|
|
NM_015404.4(WHRN):c.1929G>A (p.Gln643=)
|
rs1835054839
|
|
NM_015404.4(WHRN):c.2130C>A (p.Gly710=)
|
rs781674400
|
|
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)
|
rs2491523011
|
|
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys)
|
rs376805417
|
|
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln)
|
rs376805417
|
|
NM_015404.4(WHRN):c.2236+2T>G
|
|
|
NM_015404.4(WHRN):c.2238del (p.Ala747fs)
|
|
|
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val)
|
rs751455932
|
|
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)
|
rs137852839
|
|
NM_015404.4(WHRN):c.2345C>A (p.Ser782Ter)
|
rs372472927
|
|
NM_015404.4(WHRN):c.2418+1G>A
|
|
|
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter)
|
rs727504817
|
|
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln)
|
rs1301232723
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln)
|
rs727505255
|
|
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)
|
rs137852840
|
|
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala)
|
rs572312301
|
|
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)
|
rs760261757
|
|
NM_015404.4(WHRN):c.375del (p.Ala126fs)
|
rs751838091
|
|
NM_015404.4(WHRN):c.618+2del
|
|
|
NM_015404.4(WHRN):c.680G>T (p.Gly227Val)
|
rs908185393
|
|
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
|
rs1306987034
|
|
NM_015404.4(WHRN):c.737del (p.Pro246fs)
|
rs1589229634
|
|
NM_015404.4(WHRN):c.816_817delinsTT (p.Gln273Ter)
|
|
|
NM_015404.4(WHRN):c.837+1G>A
|
rs2133130286
|
|
NM_015404.4(WHRN):c.856dup (p.Asp286fs)
|
rs1064794551
|
|
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp)
|
rs143165834
|
|
NM_022124.5(CDH23):c.337del
|
rs2132200416
|
|
NM_022124.6(CDH23):c.*117dup
|
rs886047145
|
|
NM_022124.6(CDH23):c.*481G>A
|
rs1842115067
|
|
NM_022124.6(CDH23):c.*588del
|
rs148667421
|
|
NM_022124.6(CDH23):c.*612G>A
|
rs886047147
|
|
NM_022124.6(CDH23):c.-197GAGCGGC[3]
|
rs527578984
|
|
NM_022124.6(CDH23):c.-197GAGCGGC[5]
|
rs527578984
|
|
NM_022124.6(CDH23):c.-276G>A
|
rs886047123
|
|
NM_022124.6(CDH23):c.-346G>T
|
rs886047122
|
|
NM_022124.6(CDH23):c.-45AGGCG[2]
|
rs71012280
|
|
NM_022124.6(CDH23):c.-45AGGCG[4]
|
rs71012280
|
|
NM_022124.6(CDH23):c.-6+13A>C
|
rs1847565256
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr)
|
rs745358868
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.1117G>A (p.Val373Met)
|
rs573032828
|
|
NM_022124.6(CDH23):c.1141-3C>T
|
rs1862820418
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
rs2493815701
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
NM_022124.6(CDH23):c.1291-1G>A
|
rs2132596686
|
|
NM_022124.6(CDH23):c.1342A>T (p.Ile448Phe)
|
rs760730664
|
|
NM_022124.6(CDH23):c.1361A>G (p.Asn454Ser)
|
|
|
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys)
|
rs727504613
|
|
NM_022124.6(CDH23):c.1395C>A (p.Tyr465Ter)
|
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
NM_022124.6(CDH23):c.145+1G>T
|
rs1850169561
|
|
NM_022124.6(CDH23):c.1566C>T (p.Asp522=)
|
rs1864422770
|
|
NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs)
|
rs2493938342
|
|
NM_022124.6(CDH23):c.1699G>T (p.Val567Leu)
|
rs377148854
|
|
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
|
rs2493960548
|
|
NM_022124.6(CDH23):c.1880del (p.Leu627fs)
|
rs2493960610
|
|
NM_022124.6(CDH23):c.1936G>A (p.Ala646Thr)
|
rs1864696694
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_022124.6(CDH23):c.1986+10C>A
|
rs1864699424
|
|
NM_022124.6(CDH23):c.1987-1G>A
|
rs1060499714
|
|
NM_022124.6(CDH23):c.2100C>T (p.Arg700=)
|
rs2132705726
|
|
NM_022124.6(CDH23):c.2162T>A (p.Ile721Asn)
|
rs1458002238
|
|
NM_022124.6(CDH23):c.2171G>C (p.Arg724Pro)
|
rs374955091
|
|
NM_022124.6(CDH23):c.2182A>G (p.Ile728Val)
|
rs1865286018
|
|
NM_022124.6(CDH23):c.2193G>A (p.Thr731=)
|
rs397517315
|
|
NM_022124.6(CDH23):c.2193G>C (p.Thr731=)
|
rs397517315
|
|
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)
|
rs1230303971
|
|
NM_022124.6(CDH23):c.2290-13del
|
rs397517316
|
|
NM_022124.6(CDH23):c.2323del (p.His775fs)
|
|
|
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys)
|
rs199709482
|
|
NM_022124.6(CDH23):c.2330C>T (p.Thr777Met)
|
rs199709482
|
|
NM_022124.6(CDH23):c.2337_2339del (p.Lys779_Asp780delinsAsn)
|
rs2494021782
|
|
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu)
|
rs886047132
|
|
NM_022124.6(CDH23):c.2375dup (p.Pro793fs)
|
rs2494022006
|
|
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)
|
rs1554857840
|
|
NM_022124.6(CDH23):c.2419del (p.Leu807fs)
|
|
|
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter)
|
rs1039517349
|
|
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp)
|
rs1203928940
|
|
NM_022124.6(CDH23):c.2462A>G (p.Asn821Ser)
|
rs774080275
|
|
NM_022124.6(CDH23):c.2476del (p.Leu826fs)
|
rs1865609793
|
|
NM_022124.6(CDH23):c.2516_2517dup (p.Leu840fs)
|
|
|
NM_022124.6(CDH23):c.2587+1G>T
|
|
|
NM_022124.6(CDH23):c.2592C>G (p.Gly864=)
|
rs747891923
|
|
NM_022124.6(CDH23):c.271C>T (p.Gln91Ter)
|
rs1853882557
|
|
NM_022124.6(CDH23):c.2730C>G (p.Tyr910Ter)
|
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
NM_022124.6(CDH23):c.2751C>T (p.Leu917=)
|
rs369180032
|
|
NM_022124.6(CDH23):c.276A>G (p.Pro92=)
|
rs1589149152
|
|
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala)
|
rs1308326827
|
|
NM_022124.6(CDH23):c.2805C>T (p.Arg935=)
|
rs1040584418
|
|
NM_022124.6(CDH23):c.2814C>T (p.Phe938=)
|
rs749588146
|
|
NM_022124.6(CDH23):c.2817C>T (p.Leu939=)
|
rs2132739969
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
NM_022124.6(CDH23):c.2864G>T (p.Arg955Leu)
|
rs758293939
|
|
NM_022124.6(CDH23):c.2878dup (p.Glu960fs)
|
rs2494061572
|
|
NM_022124.6(CDH23):c.289-1G>C
|
|
|
NM_022124.6(CDH23):c.2929T>C (p.Ser977Pro)
|
rs1865733199
|
|
NM_022124.6(CDH23):c.2954-12T>G
|
|
|
NM_022124.6(CDH23):c.2990C>T (p.Pro997Leu)
|
rs553541801
|
|
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn)
|
rs1064796283
|
|
NM_022124.6(CDH23):c.3093C>T (p.Ser1031=)
|
rs1865817852
|
|
NM_022124.6(CDH23):c.3106+4C>T
|
rs1900497
|
|
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser)
|
rs886047133
|
|
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)
|
rs377100683
|
|
NM_022124.6(CDH23):c.3136G>A (p.Gly1046Ser)
|
rs765847681
|
|
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=)
|
rs377259987
|
|
NM_022124.6(CDH23):c.3179G>A (p.Arg1060Gln)
|
rs536438868
|
|
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys)
|
rs2132751512
|
|
NM_022124.6(CDH23):c.3220+1G>A
|
rs1487026359
|
|
NM_022124.6(CDH23):c.3226G>C (p.Gly1076Arg)
|
rs1368702540
|
|
NM_022124.6(CDH23):c.3247_3248del (p.Thr1083fs)
|
|
|
NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys)
|
rs1064794520
|
|
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
NM_022124.6(CDH23):c.3351A>G (p.Glu1117=)
|
rs1866031274
|
|
NM_022124.6(CDH23):c.3353del (p.Gly1118fs)
|
rs2132760607
|
|
NM_022124.6(CDH23):c.337-2A>G
|
|
|
NM_022124.6(CDH23):c.3430+114T>C
|
rs7893748
|
|
NM_022124.6(CDH23):c.3431-1G>A
|
rs2132804878
|
|
NM_022124.6(CDH23):c.3468T>G (p.Asn1156Lys)
|
rs751046027
|
|
NM_022124.6(CDH23):c.3476T>G (p.Leu1159Arg)
|
|
|
NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp)
|
rs199866703
|
|
NM_022124.6(CDH23):c.3523G>T (p.Val1175Leu)
|
rs763379895
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser)
|
rs886047134
|
|
NM_022124.6(CDH23):c.3619del (p.Val1207fs)
|
|
|
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg)
|
rs727504513
|
|
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg)
|
rs727504513
|
|
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met)
|
rs377358096
|
|
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala)
|
rs764805425
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)
|
rs796051860
|
|
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)
|
rs121908350
|
|
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp)
|
rs483353051
|
|
NM_022124.6(CDH23):c.3972G>A (p.Glu1324=)
|
rs1839415432
|
|
NM_022124.6(CDH23):c.4004T>C (p.Val1335Ala)
|
rs1364542092
|
|
NM_022124.6(CDH23):c.4005C>G (p.Val1335=)
|
rs886047136
|
|
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=)
|
rs373634236
|
|
NM_022124.6(CDH23):c.4102_4103delinsTATCTTGAA (p.Thr1368fs)
|
|
|
NM_022124.6(CDH23):c.4104+4A>T
|
rs483353052
|
|
NM_022124.6(CDH23):c.4105-1G>A
|
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.4210-12G>A
|
rs115948943
|
|
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=)
|
rs1564768174
|
|
NM_022124.6(CDH23):c.437C>T (p.Pro146Leu)
|
rs765103490
|
|
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr)
|
rs756674688
|
|
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser)
|
rs756674688
|
|
NM_022124.6(CDH23):c.4391C>A (p.Ala1464Glu)
|
rs374362883
|
|
NM_022124.6(CDH23):c.4396dup (p.Ala1466fs)
|
|
|
NM_022124.6(CDH23):c.4418A>G (p.Asn1473Ser)
|
rs1653650223
|
|
NM_022124.6(CDH23):c.4435G>A (p.Val1479Met)
|
rs1839682678
|
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347
|
|
NM_022124.6(CDH23):c.4543G>T (p.Val1515Leu)
|
rs758050912
|
|
NM_022124.6(CDH23):c.4594_4597del (p.Gly1532fs)
|
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly)
|
rs773842427
|
|
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met)
|
rs1446824013
|
|
NM_022124.6(CDH23):c.4693TAC[1] (p.Tyr1566del)
|
rs2494220865
|
|
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)
|
rs759981467
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu)
|
rs886047137
|
|
NM_022124.6(CDH23):c.4829G>T (p.Gly1610Val)
|
rs1839745979
|
|
NM_022124.6(CDH23):c.4937G>A (p.Gly1646Asp)
|
rs759019656
|
|
NM_022124.6(CDH23):c.4978C>T (p.Leu1660=)
|
rs763303805
|
|
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=)
|
rs886047139
|
|
NM_022124.6(CDH23):c.5004C>T (p.Gly1668=)
|
rs1840853887
|
|
NM_022124.6(CDH23):c.5026G>T (p.Ala1676Ser)
|
rs56043301
|
|
NM_022124.6(CDH23):c.5045C>A (p.Thr1682Asn)
|
rs1840855231
|
|
NM_022124.6(CDH23):c.5051G>A (p.Arg1684His)
|
rs111033475
|
|
NM_022124.6(CDH23):c.5067+1G>A
|
rs2494339264
|
|
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5187+44C>G
|
rs10740390
|
|
NM_022124.6(CDH23):c.5187+73C>T
|
rs10823843
|
|
NM_022124.6(CDH23):c.5256dup (p.Glu1753Ter)
|
|
|
NM_022124.6(CDH23):c.5268G>T (p.Glu1756Asp)
|
|
|
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter)
|
rs397517337
|
|
NM_022124.6(CDH23):c.5287G>T (p.Val1763Leu)
|
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys)
|
rs371522191
|
|
NM_022124.6(CDH23):c.5369-1G>A
|
rs1564791773
|
|
NM_022124.6(CDH23):c.5385T>C (p.Ser1795=)
|
rs1841037687
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.5434G>T (p.Glu1812Ter)
|
|
|
NM_022124.6(CDH23):c.5477G>A (p.Arg1826Gln)
|
rs780097768
|
|
NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys)
|
rs779425775
|
|
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe)
|
rs1841063934
|
|
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln)
|
rs1483080564
|
|
NM_022124.6(CDH23):c.570C>G (p.Ile190Met)
|
rs1236841357
|
|
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=)
|
rs777270336
|
|
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=)
|
rs756919394
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.586G>C (p.Glu196Gln)
|
rs753985914
|
|
NM_022124.6(CDH23):c.5924-1G>A
|
rs1841212177
|
|
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe)
|
rs2132947982
|
|
NM_022124.6(CDH23):c.5985C>A (p.Tyr1995Ter)
|
|
|
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter)
|
rs1564794944
|
|
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.6140G>A (p.Gly2047Glu)
|
rs1841241811
|
|
NM_022124.6(CDH23):c.625-10G>A
|
rs772135580
|
|
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs)
|
rs2132953243
|
|
NM_022124.6(CDH23):c.6254-12_6258del
|
|
|
NM_022124.6(CDH23):c.6254-2A>C
|
|
|
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs)
|
rs2132953252
|
|
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)
|
rs1564796487
|
|
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu)
|
rs780094972
|
|
NM_022124.6(CDH23):c.6322A>G (p.Ile2108Val)
|
rs1453941490
|
|
NM_022124.6(CDH23):c.6375C>A (p.Ile2125=)
|
rs16929354
|
|
NM_022124.6(CDH23):c.6393del (p.Ile2132fs)
|
rs754876029
|
|
NM_022124.6(CDH23):c.6440C>A (p.Thr2147Asn)
|
rs769241730
|
|
NM_022124.6(CDH23):c.6449del (p.Gly2150fs)
|
rs1564796673
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu)
|
rs761674470
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile)
|
rs727504694
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile)
|
rs2132965400
|
|
NM_022124.6(CDH23):c.6968del (p.Pro2323fs)
|
rs397517350
|
|
NM_022124.6(CDH23):c.6973A>T (p.Lys2325Ter)
|
|
|
NM_022124.6(CDH23):c.699C>T (p.Asp233=)
|
rs752101206
|
|
NM_022124.6(CDH23):c.7022C>G (p.Pro2341Arg)
|
rs1841468965
|
|
NM_022124.6(CDH23):c.7033C>T (p.Gln2345Ter)
|
|
|
NM_022124.6(CDH23):c.7060G>T (p.Val2354Phe)
|
rs1589428432
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
NM_022124.6(CDH23):c.7127A>T (p.Asp2376Val)
|
|
|
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter)
|
rs2132968121
|
|
NM_022124.6(CDH23):c.7225-1G>A
|
rs1064795722
|
|
NM_022124.6(CDH23):c.7225del
|
|
|
NM_022124.6(CDH23):c.7263C>A (p.Ile2421=)
|
rs1841497737
|
|
NM_022124.6(CDH23):c.7343T>C (p.Phe2448Ser)
|
rs2494405500
|
|
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp)
|
rs760879110
|
|
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=)
|
rs747310070
|
|
NM_022124.6(CDH23):c.7482+12C>A
|
rs370000472
|
|
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=)
|
rs886047140
|
|
NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter)
|
rs2132977459
|
|
NM_022124.6(CDH23):c.7616G>C (p.Gly2539Ala)
|
rs1841602000
|
|
NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala)
|
rs548188123
|
|
NM_022124.6(CDH23):c.7660+1G>T
|
rs1057520662
|
|
NM_022124.6(CDH23):c.7661-1G>C
|
rs2494418097
|
|
NM_022124.6(CDH23):c.7661-9C>T
|
rs577559462
|
|
NM_022124.6(CDH23):c.7730_7734del (p.Phe2577fs)
|
|
|
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7807G>A (p.Asp2603Asn)
|
rs780640943
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
NM_022124.6(CDH23):c.7873-4A>G
|
rs1047300881
|
|
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
|
rs878853337
|
|
NM_022124.6(CDH23):c.7978del (p.Asp2660fs)
|
rs2132983724
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8044G>A (p.Glu2682Lys)
|
|
|
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)
|
rs1362644811
|
|
NM_022124.6(CDH23):c.8064+1G>A
|
rs1474524543
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
NM_022124.6(CDH23):c.8154C>T (p.Asn2718=)
|
rs1841717352
|
|
NM_022124.6(CDH23):c.8178A>T (p.Pro2726=)
|
rs1208919337
|
|
NM_022124.6(CDH23):c.8191C>T (p.Gln2731Ter)
|
|
|
NM_022124.6(CDH23):c.8225C>G (p.Pro2742Arg)
|
rs758360283
|
|
NM_022124.6(CDH23):c.8228G>A (p.Arg2743His)
|
rs1269272160
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
NM_022124.6(CDH23):c.8239del (p.Val2747fs)
|
rs1554877007
|
|
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=)
|
rs1841760426
|
|
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)
|
rs397517356
|
|
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys)
|
rs397517357
|
|
NM_022124.6(CDH23):c.8287_8290del (p.Ile2763fs)
|
|
|
NM_022124.6(CDH23):c.8308+1G>A
|
rs757675676
|
|
NM_022124.6(CDH23):c.8308+4G>C
|
rs751021859
|
|
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del)
|
rs876657758
|
|
NM_022124.6(CDH23):c.833-1G>A
|
|
|
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His)
|
rs202147495
|
|
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
|
rs1483001216
|
|
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser)
|
rs886047130
|
|
NM_022124.6(CDH23):c.8401T>C (p.Phe2801Leu)
|
|
|
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)
|
rs1841773052
|
|
NM_022124.6(CDH23):c.8433G>A (p.Trp2811Ter)
|
rs757053706
|
|
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn)
|
rs2132514962
|
|
NM_022124.6(CDH23):c.8479C>T (p.Leu2827Phe)
|
rs1841774970
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
NM_022124.6(CDH23):c.8570C>T (p.Thr2857Ile)
|
rs1341806761
|
|
NM_022124.6(CDH23):c.857T>C (p.Leu286Pro)
|
rs1861132929
|
|
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys)
|
rs1174493289
|
|
NM_022124.6(CDH23):c.8693C>A (p.Ser2898Tyr)
|
rs1841789978
|
|
NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile)
|
rs746121407
|
|
NM_022124.6(CDH23):c.8869G>A (p.Val2957Ile)
|
rs369587122
|
|
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys)
|
rs376881824
|
|
NM_022124.6(CDH23):c.8G>T (p.Arg3Leu)
|
rs397517363
|
|
NM_022124.6(CDH23):c.8_9del (p.Arg3fs)
|
rs2492822470
|
|
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val)
|
rs188966938
|
|
NM_022124.6(CDH23):c.901C>A (p.Arg301=)
|
rs397517364
|
|
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del)
|
rs786205612
|
|
NM_022124.6(CDH23):c.9077+1G>A
|
rs1841885880
|
|
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
|
rs2494451548
|
|
NM_022124.6(CDH23):c.9137A>G (p.Asn3046Ser)
|
rs1841918209
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
NM_022124.6(CDH23):c.918C>G (p.Tyr306Ter)
|
|
|
NM_022124.6(CDH23):c.9198+2T>A
|
rs1841921374
|
|
NM_022124.6(CDH23):c.9207dup (p.Ile3070fs)
|
|
|
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
|
rs1841926049
|
|
NM_022124.6(CDH23):c.9254del (p.Leu3085fs)
|
rs773926246
|
|
NM_022124.6(CDH23):c.9264G>C (p.Trp3088Cys)
|
rs876657759
|
|
NM_022124.6(CDH23):c.9278+2T>A
|
rs2133002381
|
|
NM_022124.6(CDH23):c.9278_9278+3del
|
|
|
NM_022124.6(CDH23):c.9280_9286del
|
rs2133002929
|
|
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu)
|
rs876657760
|
|
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)
|
rs1564808024
|
|
NM_022124.6(CDH23):c.9292C>T (p.Leu3098Phe)
|
rs746788999
|
|
NM_022124.6(CDH23):c.9319+3_9319+6del
|
rs754198925
|
|
NM_022124.6(CDH23):c.9336C>A (p.Ile3112=)
|
rs1841945407
|
|
NM_022124.6(CDH23):c.9381-2A>G
|
rs1841971198
|
|
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr)
|
rs2133006667
|
|
NM_022124.6(CDH23):c.9437C>A (p.Ala3146Glu)
|
rs779480321
|
|
NM_022124.6(CDH23):c.945+1G>A
|
rs727502919
|
|
NM_022124.6(CDH23):c.9458C>T (p.Pro3153Leu)
|
rs762930029
|
|
NM_022124.6(CDH23):c.9481G>C (p.Asp3161His)
|
|
|
NM_022124.6(CDH23):c.9510+14G>T
|
rs188563959
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|
NM_022124.6(CDH23):c.9511-2A>C
|
|
|
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del)
|
rs763993100
|
|
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)
|
rs397517367
|
|
NM_022124.6(CDH23):c.9634-1G>A
|
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly)
|
rs532369554
|
|
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg)
|
rs1842084788
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys)
|
rs2133017674
|
|
NM_022124.6(CDH23):c.995C>T (p.Thr332Met)
|
rs376301184
|
|
NM_022124.6(CDH23):c.9973C>T (p.Arg3325Cys)
|
rs766510687
|
|
NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)
|
rs1557720377
|
|
NM_032119.3:c.16079-1455_c.16196+155del
|
|
|
NM_032119.4(ADGRV1):c.*18G>C
|
rs368671859
|
|
NM_032119.4(ADGRV1):c.10053+9A>G
|
rs574636636
|
|
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
|
rs1434051128
|
|
NM_032119.4(ADGRV1):c.10172G>A (p.Trp3391Ter)
|
|
|
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)
|
rs2531365389
|
|
NM_032119.4(ADGRV1):c.10213C>T (p.Arg3405Ter)
|
rs763670293
|
|
NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro)
|
rs2149812991
|
|
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)
|
rs1060499795
|
|
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)
|
rs1580905929
|
|
NM_032119.4(ADGRV1):c.10476_10479del (p.Phe3493fs)
|
rs1260874342
|
|
NM_032119.4(ADGRV1):c.10517G>A (p.Arg3506Lys)
|
rs764955627
|
|
NM_032119.4(ADGRV1):c.10517delinsCTGT (p.Arg3506delinsThrVal)
|
|
|
NM_032119.4(ADGRV1):c.10570C>T (p.Gln3524Ter)
|
rs766464017
|
|
NM_032119.4(ADGRV1):c.10974+1G>A
|
rs1754560628
|
|
NM_032119.4(ADGRV1):c.10974G>C (p.Gln3658His)
|
rs794727754
|
|
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=)
|
rs138029547
|
|
NM_032119.4(ADGRV1):c.11122-1G>C
|
rs1561660434
|
|
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr)
|
rs2149973588
|
|
NM_032119.4(ADGRV1):c.11547_11550del (p.Ile3849fs)
|
rs1471607090
|
|
NM_032119.4(ADGRV1):c.11757+2T>C
|
rs1755861358
|
|
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)
|
rs1755899012
|
|
NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter)
|
rs2531653814
|
|
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val)
|
rs1756212683
|
|
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)
|
rs1581041519
|
|
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=)
|
rs1757979533
|
|
NM_032119.4(ADGRV1):c.12350_12353dup (p.Phe4118fs)
|
|
|
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile)
|
rs1757987875
|
|
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)
|
rs2150063224
|
|
NM_032119.4(ADGRV1):c.1239-1G>T
|
rs373015808
|
|
NM_032119.4(ADGRV1):c.1239-8C>G
|
rs869312178
|
|
NM_032119.4(ADGRV1):c.12403+1G>T
|
rs527236132
|
|
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn)
|
rs1455010773
|
|
NM_032119.4(ADGRV1):c.12542del (p.Pro4181fs)
|
rs2531857217
|
|
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg)
|
rs1758428874
|
|
NM_032119.4(ADGRV1):c.12696_12699dup (p.Phe4234fs)
|
rs2531865376
|
|
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)
|
rs1758488956
|
|
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)
|
rs571603222
|
|
NM_032119.4(ADGRV1):c.1310G>A (p.Arg437Gln)
|
rs752560455
|
|
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
|
rs2531901971
|
|
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
|
rs776971498
|
|
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu)
|
rs769915981
|
|
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=)
|
rs41311745
|
|
NM_032119.4(ADGRV1):c.13622dup (p.Arg4542fs)
|
rs1759155995
|
|
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val)
|
rs749839670
|
|
NM_032119.4(ADGRV1):c.1378C>T (p.Gln460Ter)
|
|
|
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg)
|
rs775508830
|
|
NM_032119.4(ADGRV1):c.13852G>T (p.Glu4618Ter)
|
|
|
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter)
|
rs1338081758
|
|
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)
|
rs1057519383
|
|
NM_032119.4(ADGRV1):c.14161G>A (p.Asp4721Asn)
|
|
|
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)
|
rs1561740143
|
|
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)
|
rs1561740143
|
|
NM_032119.4(ADGRV1):c.14363C>T (p.Thr4788Ile)
|
rs1194443703
|
|
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=)
|
rs727504605
|
|
NM_032119.4(ADGRV1):c.14455_14456del (p.Arg4819fs)
|
rs1417393007
|
|
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)
|
rs1581135405
|
|
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn)
|
rs2150136010
|
|
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)
|
rs1554117973
|
|
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)
|
rs780664266
|
|
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe)
|
rs373391623
|
|
NM_032119.4(ADGRV1):c.14854dup (p.His4952fs)
|
rs1762027044
|
|
NM_032119.4(ADGRV1):c.14901T>C (p.Pro4967=)
|
rs1762032375
|
|
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn)
|
rs756275299
|
|
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly)
|
rs1762354671
|
|
NM_032119.4(ADGRV1):c.15476C>T (p.Thr5159Ile)
|
rs1472004831
|
|
NM_032119.4(ADGRV1):c.15492C>A (p.Ser5164Arg)
|
rs771447233
|
|
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)
|
rs1581196586
|
|
NM_032119.4(ADGRV1):c.15496A>T (p.Thr5166Ser)
|
rs1762365729
|
|
NM_032119.4(ADGRV1):c.1563del (p.Pro522fs)
|
|
|
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter)
|
rs527236131
|
|
NM_032119.4(ADGRV1):c.16041dup (p.Thr5348fs)
|
rs2150231769
|
|
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)
|
rs1561416879
|
|
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)
|
rs377650415
|
|
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)
|
rs1561790371
|
|
NM_032119.4(ADGRV1):c.16196+1G>T
|
rs1326895760
|
|
NM_032119.4(ADGRV1):c.16197-1G>T
|
rs1561805689
|
|
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)
|
rs1765197280
|
|
NM_032119.4(ADGRV1):c.16336T>C (p.Cys5446Arg)
|
|
|
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser)
|
rs1385789921
|
|
NM_032119.4(ADGRV1):c.16357A>T (p.Lys5453Ter)
|
|
|
NM_032119.4(ADGRV1):c.16368+1G>A
|
|
|
NM_032119.4(ADGRV1):c.16368+2T>C
|
|
|
NM_032119.4(ADGRV1):c.16434C>A (p.Asn5478Lys)
|
|
|
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)
|
rs1764301206
|
|
NM_032119.4(ADGRV1):c.16677T>C (p.Phe5559=)
|
rs1765343575
|
|
NM_032119.4(ADGRV1):c.1678A>G (p.Ile560Val)
|
rs1765203369
|
|
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350
|
|
NM_032119.4(ADGRV1):c.17024C>T (p.Thr5675Ile)
|
rs1766156572
|
|
NM_032119.4(ADGRV1):c.17187C>A (p.Cys5729Ter)
|
|
|
NM_032119.4(ADGRV1):c.17188G>T (p.Gly5730Cys)
|
rs745645525
|
|
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)
|
rs1561843914
|
|
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)
|
rs727504644
|
|
NM_032119.4(ADGRV1):c.17386C>T (p.Gln5796Ter)
|
rs1766727068
|
|
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn)
|
rs749894314
|
|
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=)
|
rs1766790878
|
|
NM_032119.4(ADGRV1):c.17461T>C (p.Ser5821Pro)
|
rs2532548217
|
|
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)
|
rs1766797963
|
|
NM_032119.4(ADGRV1):c.17576G>A (p.Trp5859Ter)
|
|
|
NM_032119.4(ADGRV1):c.17756-1G>A
|
|
|
NM_032119.4(ADGRV1):c.17974-1G>C
|
rs1581711527
|
|
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)
|
rs121909763
|
|
NM_032119.4(ADGRV1):c.18433-13T>C
|
rs1313679502
|
|
NM_032119.4(ADGRV1):c.18433-17_18433-16insCT
|
rs1554239805
|
|
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
|
rs776592421
|
|
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer)
|
rs796051865
|
|
NM_032119.4(ADGRV1):c.18803-4G>T
|
rs80335659
|
|
NM_032119.4(ADGRV1):c.18803G>A (p.Gly6268Asp)
|
rs1246740079
|
|
NM_032119.4(ADGRV1):c.2017-1G>A
|
|
|
NM_032119.4(ADGRV1):c.2241-2A>G
|
rs929034631
|
|
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)
|
rs796051866
|
|
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)
|
rs1185617030
|
|
NM_032119.4(ADGRV1):c.227del (p.Gly76fs)
|
rs2531705922
|
|
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe)
|
rs375652742
|
|
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)
|
rs1561441451
|
|
NM_032119.4(ADGRV1):c.2367+2T>A
|
|
|
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=)
|
rs1393079124
|
|
NM_032119.4(ADGRV1):c.2503G>A (p.Glu835Lys)
|
rs2149429894
|
|
NM_032119.4(ADGRV1):c.2612del (p.Gly871fs)
|
rs983340336
|
|
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)
|
rs1580567084
|
|
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=)
|
rs1767484423
|
|
NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter)
|
rs2531999348
|
|
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp)
|
rs1327028321
|
|
NM_032119.4(ADGRV1):c.2898+2T>C
|
rs2532001058
|
|
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)
|
rs1060499796
|
|
NM_032119.4(ADGRV1):c.2898G>T (p.Glu966Asp)
|
|
|
NM_032119.4(ADGRV1):c.3022+9G>C
|
rs1767715969
|
|
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)
|
rs1439933768
|
|
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)
|
rs1767988429
|
|
NM_032119.4(ADGRV1):c.3261del (p.Tyr1089fs)
|
|
|
NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs)
|
rs779424764
|
|
NM_032119.4(ADGRV1):c.3416+9A>G
|
rs1228297663
|
|
NM_032119.4(ADGRV1):c.3438C>G (p.Tyr1146Ter)
|
|
|
NM_032119.4(ADGRV1):c.3731T>C (p.Leu1244Ser)
|
rs1457543918
|
|
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr)
|
rs2149466957
|
|
NM_032119.4(ADGRV1):c.3908dup (p.Leu1303fs)
|
rs749681584
|
|
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
|
rs993498251
|
|
NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val)
|
rs575602255
|
|
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)
|
rs1580609185
|
|
NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter)
|
rs2149468550
|
|
NM_032119.4(ADGRV1):c.4371dup (p.Thr1458fs)
|
rs759668154
|
|
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)
|
rs1580624630
|
|
NM_032119.4(ADGRV1):c.4510A>T (p.Lys1504Ter)
|
|
|
NM_032119.4(ADGRV1):c.4571C>G (p.Ser1524Ter)
|
rs1043304361
|
|
NM_032119.4(ADGRV1):c.461C>A (p.Ser154Ter)
|
rs2531757792
|
|
NM_032119.4(ADGRV1):c.4752+2T>G
|
rs774386059
|
|
NM_032119.4(ADGRV1):c.4753-1G>T
|
|
|
NM_032119.4(ADGRV1):c.4837del (p.Ser1613fs)
|
|
|
NM_032119.4(ADGRV1):c.4929+6C>A
|
rs770299827
|
|
NM_032119.4(ADGRV1):c.4930-13T>C
|
rs1772876338
|
|
NM_032119.4(ADGRV1):c.4977G>A (p.Glu1659=)
|
rs1332531282
|
|
NM_032119.4(ADGRV1):c.514A>T (p.Ile172Phe)
|
rs2152065480
|
|
NM_032119.4(ADGRV1):c.5314-2A>G
|
|
|
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)
|
rs796051867
|
|
NM_032119.4(ADGRV1):c.5360del (p.Tyr1787fs)
|
|
|
NM_032119.4(ADGRV1):c.559-1G>A
|
|
|
NM_032119.4(ADGRV1):c.5665-231C>T
|
rs2530815387
|
|
NM_032119.4(ADGRV1):c.5674C>T (p.His1892Tyr)
|
rs1487676914
|
|
NM_032119.4(ADGRV1):c.5776C>A (p.Gln1926Lys)
|
rs1449286135
|
|
NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5800G>C (p.Glu1934Gln)
|
rs924076283
|
|
NM_032119.4(ADGRV1):c.582del (p.Asp195fs)
|
rs2531785573
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs)
|
rs1554081619
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs)
|
rs778288846
|
|
NM_032119.4(ADGRV1):c.6017G>A (p.Gly2006Asp)
|
rs768201036
|
|
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val)
|
rs768201036
|
|
NM_032119.4(ADGRV1):c.6077dup (p.Tyr2026Ter)
|
rs1745281144
|
|
NM_032119.4(ADGRV1):c.6083C>T (p.Pro2028Leu)
|
rs764451392
|
|
NM_032119.4(ADGRV1):c.6083del (p.Pro2028fs)
|
|
|
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
|
rs1337798741
|
|
NM_032119.4(ADGRV1):c.6293T>C (p.Leu2098Pro)
|
rs2530843366
|
|
NM_032119.4(ADGRV1):c.6491-10G>A
|
rs1746236391
|
|
NM_032119.4(ADGRV1):c.6491-1G>A
|
rs1010784407
|
|
NM_032119.4(ADGRV1):c.6514T>C (p.Ser2172Pro)
|
rs2149615684
|
|
NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met)
|
rs772875455
|
|
NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys)
|
rs771621314
|
|
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter)
|
rs1053590019
|
|
NM_032119.4(ADGRV1):c.6642_6648dup (p.Ala2217fs)
|
|
|
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
|
rs779821643
|
|
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe)
|
rs1338945655
|
|
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)
|
rs1276890742
|
|
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)
|
rs527236133
|
|
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln)
|
rs1764885190
|
|
NM_032119.4(ADGRV1):c.7112dup (p.Ala2371_Asn2372insTer)
|
|
|
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln)
|
rs369341309
|
|
NM_032119.4(ADGRV1):c.7134-2A>T
|
|
|
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)
|
rs111033452
|
|
NM_032119.4(ADGRV1):c.7255C>T (p.Pro2419Ser)
|
rs2149639504
|
|
NM_032119.4(ADGRV1):c.7339C>T (p.Gln2447Ter)
|
rs1413833807
|
|
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu)
|
rs191036195
|
|
NM_032119.4(ADGRV1):c.7602G>C (p.Met2534Ile)
|
|
|
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)
|
rs886039893
|
|
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)
|
rs2149642220
|
|
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile)
|
rs770016069
|
|
NM_032119.4(ADGRV1):c.7858G>A (p.Val2620Met)
|
|
|
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)
|
rs1561543496
|
|
NM_032119.4(ADGRV1):c.7892C>G (p.Ala2631Gly)
|
rs1471310336
|
|
NM_032119.4(ADGRV1):c.7893T>C (p.Ala2631=)
|
rs1746947355
|
|
NM_032119.4(ADGRV1):c.7945+27C>A
|
rs10068473
|
|
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=)
|
rs556164327
|
|
NM_032119.4(ADGRV1):c.8156-4G>A
|
rs1228094810
|
|
NM_032119.4(ADGRV1):c.8471G>C (p.Gly2824Ala)
|
rs975296721
|
|
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)
|
rs796051863
|
|
NM_032119.4(ADGRV1):c.8718del (p.Thr2907fs)
|
|
|
NM_032119.4(ADGRV1):c.8730+21dup
|
rs60522638
|
|
NM_032119.4(ADGRV1):c.8731-2A>G
|
rs2531119855
|
|
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)
|
rs796051864
|
|
NM_032119.4(ADGRV1):c.8801C>A (p.Ser2934Ter)
|
|
|
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)
|
rs1554090072
|
|
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)
|
rs2149715612
|
|
NM_032119.4(ADGRV1):c.8845C>T (p.Gln2949Ter)
|
|
|
NM_032119.4(ADGRV1):c.8875C>T (p.Arg2959Ter)
|
rs768035707
|
|
NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu)
|
rs769373495
|
|
NM_032119.4(ADGRV1):c.9143C>G (p.Thr3048Arg)
|
rs1749480488
|
|
NM_032119.4(ADGRV1):c.9182T>G (p.Ile3061Arg)
|
rs1749486357
|
|
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)
|
rs1580845586
|
|
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)
|
rs1764920338
|
|
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs)
|
rs752179149
|
|
NM_032119.4(ADGRV1):c.9596dup (p.Phe3200fs)
|
|
|
NM_032119.4(ADGRV1):c.9624-4T>A
|
rs1750838817
|
|
NM_032119.4(ADGRV1):c.9748+2T>C
|
rs1580864592
|
|
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)
|
rs769215629
|
|
NM_032119.4(ADGRV1):c.[1718G>T;9440G>A]
|
|
|
NM_033056.3(PCDH15):c.4368-13_4368-10dup
|
rs530804327
|
|
NM_033056.4(PCDH15):c.4368-15_4368-2del
|
rs1057516560
|
|
NM_033056.4(PCDH15):c.4368-1_4369dup
|
rs1554821139
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4368-3_4379dup
|
rs1554821131
|
|
NM_033056.4(PCDH15):c.4368-7_4374del
|
|
|
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=)
|
rs140748627
|
|
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter)
|
rs1033803342
|
|
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup)
|
rs1554821093
|
|
NM_033056.4(PCDH15):c.4402G>A (p.Gly1468Arg)
|
rs1406470633
|
|
NM_033056.4(PCDH15):c.4403_4407dup (p.Asn1470fs)
|
|
|
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4411_4412del (p.Val1472fs)
|
|
|
NM_033056.4(PCDH15):c.4411_4412dup (p.Val1472fs)
|
rs2132512042
|
|
NM_033056.4(PCDH15):c.4435CAA[1] (p.Gln1480del)
|
rs1358121247
|
|
NM_033056.4(PCDH15):c.4467_4497dup (p.Gly1500delinsTyrTer)
|
|
|
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs)
|
rs1554820966
|
|
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs)
|
rs1554820916
|
|
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs)
|
rs1554820902
|
|
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs)
|
rs1554820894
|
|
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs)
|
rs1554820891
|
|
NM_033056.4(PCDH15):c.4566_4569dup (p.Ala1524fs)
|
rs2132508767
|
|
NM_033056.4(PCDH15):c.4596C>T (p.Asn1532=)
|
rs2076416258
|
|
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer)
|
rs2132508266
|
|
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs)
|
rs771473483
|
|
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile)
|
rs780662896
|
|
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs)
|
rs1554820847
|
|
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs)
|
rs1363726588
|
|
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup)
|
rs1554820809
|
|
NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu)
|
rs765129268
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs)
|
rs1554820749
|
|
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter)
|
rs758204385
|
|
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=)
|
rs1564538186
|
|
NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal)
|
rs2076402324
|
|
NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs)
|
rs770063261
|
|
NM_033056.4(PCDH15):c.4741C>T (p.Pro1581Ser)
|
|
|
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs)
|
rs1554820712
|
|
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer)
|
rs1554820690
|
|
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup)
|
rs1554820687
|
|
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter)
|
rs1554820663
|
|
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=)
|
rs372440971
|
|
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs)
|
rs1554820651
|
|
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter)
|
rs1554820648
|
|
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)
|
rs545191822
|
|
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs)
|
rs1554820630
|
|
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs)
|
rs1554820628
|
|
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala)
|
rs751863041
|
|
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup)
|
rs1554820580
|
|
NM_033056.4(PCDH15):c.4865_4871dup (p.Leu1625fs)
|
|
|
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs)
|
rs1240582095
|
|
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr)
|
rs1554820541
|
|
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup)
|
rs750133663
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs)
|
rs780945310
|
|
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter)
|
rs1484672299
|
|
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs)
|
rs1554820498
|
|
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup)
|
rs758259410
|
|
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val)
|
rs141103437
|
|
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter)
|
rs1554820445
|
|
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup)
|
rs1554820428
|
|
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs)
|
rs1491078644
|
|
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter)
|
rs902963615
|
|
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs)
|
rs1554820394
|
|
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs)
|
rs775238614
|
|
NM_033056.4(PCDH15):c.4993C>A (p.Pro1665Thr)
|
rs886047062
|
|
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs)
|
rs1554820378
|
|
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup)
|
rs1554820353
|
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902
|
|
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs)
|
rs1554820332
|
|
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter)
|
rs1554820318
|
|
NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup)
|
rs772692454
|
|
NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del)
|
rs2076368967
|
|
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del)
|
rs1554820270
|
|
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer)
|
rs1554820255
|
|
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser)
|
rs1194313858
|
|
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs)
|
rs1554820230
|
|
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter)
|
rs1554820212
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs)
|
rs1554820145
|
|
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del)
|
rs767526540
|
|
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del)
|
rs1554820140
|
|
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup)
|
rs756858099
|
|
NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del)
|
rs777129729
|
|
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del)
|
rs752658191
|
|
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del)
|
rs1554820050
|
|
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del)
|
rs957797299
|
|
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272CCT[4] (p.Pro1760dup)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del)
|
rs754779351
|
|
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs)
|
rs1554820127
|
|
NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del)
|
rs761936890
|
|
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)
|
rs373916538
|
|
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del)
|
rs1554820012
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)
|
rs770671117
|
|
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del)
|
rs1554820073
|
|
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del)
|
rs1415161284
|
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699
|
|
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs)
|
rs1554820022
|
|
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser)
|
rs751914445
|
|
NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg)
|
rs1564533607
|
|
NM_033056.4(PCDH15):c.5343_5351del (p.1780PPS[1])
|
rs2076338069
|
|
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs)
|
rs1554820009
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs)
|
rs1554819982
|
|
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs)
|
rs1554819970
|
|
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs)
|
rs1376879405
|
|
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs)
|
rs1554819957
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[3] (p.1788LP[3])
|
rs779691085
|
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225
|
|
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del)
|
rs978342737
|
|
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs)
|
rs1554819925
|
|
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=)
|
rs534255804
|
|
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr)
|
rs727505235
|
|
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del)
|
rs1554819833
|
|
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del)
|
rs764759018
|
|
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del)
|
rs1554819787
|
|
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del)
|
rs763534924
|
|
NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe)
|
rs776844300
|
|
NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter)
|
rs1588927571
|
|
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs)
|
rs1554819767
|
|
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)
|
rs1554819761
|
|
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe)
|
rs752231055
|
|
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=)
|
rs767304005
|
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445
|
|
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter)
|
rs371269732
|
|
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
|
rs770082088
|
|
NM_033056.4(PCDH15):c.5576_5577insTAAT (p.Lys1859fs)
|
rs2492348009
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs)
|
rs1554819653
|
|
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs)
|
rs1418472770
|
|
NM_033056.4(PCDH15):c.5632_5633del (p.Glu1878fs)
|
rs794727570
|
|
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly)
|
rs2076305966
|
|
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr)
|
rs886047060
|
|
NM_033056.4(PCDH15):c.5669_5671del (p.Ala1890del)
|
rs771643291
|
|
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
|
rs2492343512
|
|
NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe)
|
rs2132483191
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter)
|
rs1554819599
|
|
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs)
|
rs1554819570
|
|
NM_033056.4(PCDH15):c.5708T>C (p.Ile1903Thr)
|
rs202223635
|
|
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs)
|
rs1554819558
|
|
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter)
|
rs780553426
|
|
NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs)
|
rs778380770
|
|
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)
|
rs568470164
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu)
|
rs145851144
|
|
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del)
|
rs1554819513
|
|
NM_033056.4(PCDH15):c.5753del (p.Met1918fs)
|
rs1554819525
|
|
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs)
|
rs755876430
|
|
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs)
|
rs1554819488
|
|
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs)
|
rs1554819493
|
|
NM_033056.4(PCDH15):c.5816A>T (p.Asn1939Ile)
|
rs931395591
|
|
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup)
|
rs750168790
|
|
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys)
|
rs200913448
|
|
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs)
|
rs1368908688
|
|
NM_033056.4(PCDH15):c.5849_5852del (p.Ser1950fs)
|
rs757543551
|
|
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs)
|
rs757543551
|
|
NM_033056.4(PCDH15):c.5861C>G (p.Ser1954Ter)
|
rs2492334575
|
|
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs)
|
rs1554819436
|
|
NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs)
|
rs3974499
|
|
NM_145200.5(CABP4):c.626G>T (p.Arg209Leu)
|
rs552701854
|
|
NM_153676.4(USH1C):c.*419_*420insAACA
|
rs10626485
|
|
NM_153676.4(USH1C):c.-60T>G
|
rs371444878
|
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.104+2T>C
|
rs2497240788
|
|
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp)
|
rs1850407138
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960
|
|
NM_153676.4(USH1C):c.1085+7A>G
|
rs1025205332
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1144G>T (p.Glu382Ter)
|
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter)
|
rs1554959148
|
|
NM_153676.4(USH1C):c.1228C>T (p.Arg410Cys)
|
rs780885203
|
|
NM_153676.4(USH1C):c.1261-34C>T
|
rs2190454
|
|
NM_153676.4(USH1C):c.1265del (p.Gly422fs)
|
rs1554957912
|
|
NM_153676.4(USH1C):c.127G>A (p.Val43Met)
|
rs145500807
|
|
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1])
|
rs1554957867
|
|
NM_153676.4(USH1C):c.135C>T (p.Asp45=)
|
rs140319839
|
|
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter)
|
rs148115969
|
|
NM_153676.4(USH1C):c.141dup (p.Leu48fs)
|
|
|
NM_153676.4(USH1C):c.1429C>G (p.Arg477Gly)
|
rs368639867
|
|
NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup)
|
rs777764626
|
|
NM_153676.4(USH1C):c.1559dup (p.Ser521fs)
|
rs1554957167
|
|
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs)
|
rs758580540
|
|
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs)
|
rs1554957020
|
|
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del)
|
rs1175090344
|
|
NM_153676.4(USH1C):c.1806del (p.Ile603fs)
|
rs765346539
|
|
NM_153676.4(USH1C):c.1806dup (p.Ile603fs)
|
rs765346539
|
|
NM_153676.4(USH1C):c.1807dup (p.Ile603fs)
|
rs1554956941
|
|
NM_153676.4(USH1C):c.1813A>C (p.Ile605Leu)
|
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter)
|
rs1554956913
|
|
NM_153676.4(USH1C):c.1840del (p.Gln614fs)
|
rs1554956916
|
|
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter)
|
rs778700091
|
|
NM_153676.4(USH1C):c.1956_1957del (p.His652fs)
|
rs766725582
|
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs)
|
rs1554956821
|
|
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)
|
rs1850975781
|
|
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter)
|
rs139116036
|
|
NM_153676.4(USH1C):c.2134-22dup
|
rs397848183
|
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232
|
|
NM_153676.4(USH1C):c.2217dup (p.Tyr740fs)
|
|
|
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr)
|
rs200182990
|
|
NM_153676.4(USH1C):c.2227-1G>A
|
rs778110397
|
|
NM_153676.4(USH1C):c.225T>C (p.Asp75=)
|
rs111033279
|
|
NM_153676.4(USH1C):c.2265C>G (p.Leu755=)
|
rs151251262
|
|
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
|
rs2497003503
|
|
NM_153676.4(USH1C):c.2280+2T>C
|
rs1554954681
|
|
NM_153676.4(USH1C):c.2281-1G>A
|
rs1554954574
|
|
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)
|
rs775036726
|
|
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn)
|
rs1019237939
|
|
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
|
rs2496999266
|
|
NM_153676.4(USH1C):c.2371G>T (p.Glu791Ter)
|
|
|
NM_153676.4(USH1C):c.2374C>A (p.Arg792=)
|
rs200428926
|
|
NM_153676.4(USH1C):c.2380+1G>C
|
rs1060499916
|
|
NM_153676.4(USH1C):c.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.2381-7_2381del
|
rs2496984080
|
|
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly)
|
rs774005703
|
|
NM_153676.4(USH1C):c.238C>T (p.Arg80Trp)
|
rs774005703
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
|
rs2496983878
|
|
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
|
rs2496983474
|
|
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)
|
rs779253356
|
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971
|
|
NM_153676.4(USH1C):c.2490+1G>T
|
rs1554953746
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2490+2T>C
|
rs1554953745
|
|
NM_153676.4(USH1C):c.2525dup (p.Glu844fs)
|
rs754257195
|
|
NM_153676.4(USH1C):c.2528dup (p.Glu844fs)
|
rs1554953360
|
|
NM_153676.4(USH1C):c.2546+125A>G
|
rs2072229
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.263del (p.Val88fs)
|
rs1850961650
|
|
NM_153676.4(USH1C):c.2655+12G>A
|
rs727504552
|
|
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)
|
rs1474458620
|
|
NM_153676.4(USH1C):c.2681del (p.Gly894fs)
|
rs1554952757
|
|
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs)
|
rs1554952752
|
|
NM_153676.4(USH1C):c.272A>G (p.Asp91Gly)
|
rs2497224482
|
|
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
|
rs2497223701
|
|
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
|
rs2497223524
|
|
NM_153676.4(USH1C):c.348_373del (p.His116fs)
|
rs2133917820
|
|
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser)
|
rs1850953775
|
|
NM_153676.4(USH1C):c.36+1G>T
|
rs1403777293
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.405C>G (p.Val135=)
|
rs762298047
|
|
NM_153676.4(USH1C):c.409A>G (p.Ile137Val)
|
rs1850747142
|
|
NM_153676.4(USH1C):c.412A>G (p.Asn138Asp)
|
rs1850746868
|
|
NM_153676.4(USH1C):c.491_492del (p.Val164fs)
|
rs1850741468
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148
|
|
NM_153676.4(USH1C):c.496+33=
|
rs12795083
|
|
NM_153676.4(USH1C):c.496_496+4del
|
rs1381315419
|
|
NM_153676.4(USH1C):c.514G>T (p.Val172Leu)
|
rs748703138
|
|
NM_153676.4(USH1C):c.530A>G (p.Asp177Gly)
|
rs1850699098
|
|
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
|
rs2497187064
|
|
NM_153676.4(USH1C):c.567G>T (p.Val189=)
|
rs1850696503
|
|
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)
|
rs200319849
|
|
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)
|
rs200319849
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)
|
rs770543827
|
|
NM_153676.4(USH1C):c.634G>A (p.Val212Ile)
|
rs886048060
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+1del
|
rs1554961872
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.711del (p.Phe237fs)
|
rs1427085382
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.776T>G (p.Val259Gly)
|
rs772108970
|
|
NM_153676.4(USH1C):c.777_778del (p.Glu260fs)
|
|
|
NM_153676.4(USH1C):c.777del (p.Glu260fs)
|
rs2497163167
|
|
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)
|
rs876657624
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
|
rs2497241282
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
|
rs2497241170
|
|
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
|
rs2497241170
|
|
NM_153676.4(USH1C):c.876+2_876+19del
|
|
|
NM_153676.4(USH1C):c.878_882delinsA (p.Gly293fs)
|
|
|
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
|
rs2497156421
|
|
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)
|
rs574790229
|
|
NM_153676.4(USH1C):c.912_934dup (p.Leu312fs)
|
|
|
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
|
rs2497155760
|
|
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
|
rs1554960929
|
|
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
|
rs2497155958
|
|
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs)
|
rs761465345
|
|
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
|
rs2497155740
|
|
NM_173477.5(USH1G):c.*1130T>C
|
rs559327953
|
|
NM_173477.5(USH1G):c.*1150TG[5]
|
rs368387485
|
|
NM_173477.5(USH1G):c.*1168TG[6]
|
rs746904393
|
|
NM_173477.5(USH1G):c.*1168TG[8]
|
rs746904393
|
|
NM_173477.5(USH1G):c.*1174T>G
|
rs1368564652
|
|
NM_173477.5(USH1G):c.*1447C>T
|
rs72844517
|
|
NM_173477.5(USH1G):c.*1903_*1905dup
|
rs886053382
|
|
NM_173477.5(USH1G):c.*1987C>T
|
rs886053381
|
|
NM_173477.5(USH1G):c.*233C>G
|
rs1294004899
|
|
NM_173477.5(USH1G):c.*498G>A
|
rs569461974
|
|
NM_173477.5(USH1G):c.-173G>C
|
rs570755897
|
|
NM_173477.5(USH1G):c.1004dup (p.Leu336fs)
|
rs1359109336
|
|
NM_173477.5(USH1G):c.104_107dup (p.Leu37fs)
|
|
|
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr)
|
rs1316299165
|
|
NM_173477.5(USH1G):c.108del (p.Leu37fs)
|
|
|
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser)
|
rs2038910336
|
|
NM_173477.5(USH1G):c.1150_1156del (p.Asp384fs)
|
|
|
NM_173477.5(USH1G):c.1219_1220insGGGC (p.Leu407fs)
|
|
|
NM_173477.5(USH1G):c.126T>C (p.His42=)
|
rs1394276163
|
|
NM_173477.5(USH1G):c.1311del (p.Lys438fs)
|
rs886043626
|
|
NM_173477.5(USH1G):c.1324del (p.Ala442fs)
|
rs2544427345
|
|
NM_173477.5(USH1G):c.1382+2_1382+3del
|
rs2544427042
|
|
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)
|
rs104894651
|
|
NM_173477.5(USH1G):c.146_147insAG (p.Leu50fs)
|
|
|
NM_173477.5(USH1G):c.163_164+13del
|
rs2544435210
|
|
NM_173477.5(USH1G):c.186_187del (p.Ile63fs)
|
rs730880268
|
|
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter)
|
rs928656346
|
|
NM_173477.5(USH1G):c.205dup (p.Leu69fs)
|
rs1598584825
|
|
NM_173477.5(USH1G):c.208_209insTC (p.His70fs)
|
rs1555627787
|
|
NM_173477.5(USH1G):c.275G>A (p.Trp92Ter)
|
rs2544431739
|
|
NM_173477.5(USH1G):c.327C>T (p.Gly109=)
|
rs2038930076
|
|
NM_173477.5(USH1G):c.348C>T (p.Tyr116=)
|
rs886053390
|
|
NM_173477.5(USH1G):c.370C>T (p.Gln124Ter)
|
|
|
NM_173477.5(USH1G):c.387dup (p.Lys130fs)
|
rs2144755152
|
|
NM_173477.5(USH1G):c.394dup (p.Val132fs)
|
rs587776546
|
|
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln)
|
rs111033466
|
|
NM_173477.5(USH1G):c.445G>T (p.Glu149Ter)
|
|
|
NM_173477.5(USH1G):c.495C>G (p.Tyr165Ter)
|
|
|
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter)
|
rs1226851798
|
|
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
|
rs727504890
|
|
NM_173477.5(USH1G):c.623dup (p.Thr209fs)
|
|
|
NM_173477.5(USH1G):c.711del (p.Arg238fs)
|
rs2144754031
|
|
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)
|
rs544952984
|
|
NM_173477.5(USH1G):c.723_726dup (p.Ser243fs)
|
|
|
NM_173477.5(USH1G):c.742del (p.Gln248fs)
|
|
|
NM_173477.5(USH1G):c.753C>T (p.Ser251=)
|
rs886053389
|
|
NM_173477.5(USH1G):c.758_765dup (p.Val256Ter)
|
|
|
NM_173477.5(USH1G):c.801G>A (p.Trp267Ter)
|
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|
NM_173477.5(USH1G):c.84dup (p.Asp29fs)
|
rs751695203
|
|
NM_173477.5(USH1G):c.85dup (p.Asp29fs)
|
rs2544435572
|
|
NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs)
|
rs2544428980
|
|
NM_174878.3(CLRN1):c.*1262G>A
|
rs1477382233
|
|
NM_174878.3(CLRN1):c.*265AT[5]
|
rs550716419
|
|
NM_174878.3(CLRN1):c.*277G>A
|
rs200685524
|
|
NM_174878.3(CLRN1):c.*277GT[11]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[12]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[13]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[15]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[16]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*592G>C
|
rs750506543
|
|
NM_174878.3(CLRN1):c.118T>C (p.Cys40Arg)
|
|
|
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val)
|
rs933370216
|
|
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)
|
rs1057517224
|
|
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)
|
rs1553776061
|
|
NM_174878.3(CLRN1):c.165C>G (p.Asp55Glu)
|
|
|
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter)
|
rs1553776052
|
|
NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg)
|
rs903439082
|
|
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
|
rs1715589813
|
|
NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs)
|
rs1553776036
|
|
NM_174878.3(CLRN1):c.208G>T (p.Gly70Cys)
|
rs983316791
|
|
NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp)
|
rs1559996059
|
|
NM_174878.3(CLRN1):c.220T>A (p.Cys74Ser)
|
|
|
NM_174878.3(CLRN1):c.227del (p.Leu76fs)
|
|
|
NM_174878.3(CLRN1):c.253+6T>C
|
rs1287122500
|
|
NM_174878.3(CLRN1):c.254-2081G>A
|
rs780023517
|
|
NM_174878.3(CLRN1):c.254-2099_254-2086del
|
rs1553772861
|
|
NM_174878.3(CLRN1):c.254-2189dup
|
rs1553772899
|
|
NM_174878.3(CLRN1):c.254-2A>G
|
rs1713861377
|
|
NM_174878.3(CLRN1):c.268C>G (p.Leu90Val)
|
rs1325008535
|
|
NM_174878.3(CLRN1):c.293A>T (p.His98Leu)
|
|
|
NM_174878.3(CLRN1):c.301_305del (p.Val101fs)
|
rs397517932
|
|
NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro)
|
rs1559982739
|
|
NM_174878.3(CLRN1):c.341del (p.Val114fs)
|
|
|
NM_174878.3(CLRN1):c.349_358del (p.Ala117fs)
|
rs1576631624
|
|
NM_174878.3(CLRN1):c.359T>A (p.Met120Lys)
|
rs121908141
|
|
NM_174878.3(CLRN1):c.372del (p.Phe124fs)
|
rs1553772595
|
|
NM_174878.3(CLRN1):c.384del (p.Phe128fs)
|
|
|
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile)
|
rs1553776132
|
|
NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg)
|
rs1553776112
|
|
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter)
|
rs1553776112
|
|
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3]
|
rs768093614
|
|
NM_174878.3(CLRN1):c.433+1102G>T
|
rs1553772414
|
|
NM_174878.3(CLRN1):c.433+2dup
|
rs1057516687
|
|
NM_174878.3(CLRN1):c.434-3C>A
|
rs1712938572
|
|
NM_174878.3(CLRN1):c.434G>T (p.Gly145Val)
|
rs765085056
|
|
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr)
|
rs201625237
|
|
NM_174878.3(CLRN1):c.43G>A (p.Val15Met)
|
rs1559996357
|
|
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)
|
rs121908142
|
|
NM_174878.3(CLRN1):c.456_458del (p.Met152del)
|
rs1553770929
|
|
NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet)
|
rs1085307049
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_174878.3(CLRN1):c.528T>A (p.Tyr176Ter)
|
rs121908140
|
|
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)
|
rs376155416
|
|
NM_174878.3(CLRN1):c.563C>A (p.Ser188Ter)
|
rs2107927808
|
|
NM_174878.3(CLRN1):c.569G>A (p.Trp190Ter)
|
|
|
NM_174878.3(CLRN1):c.578del (p.Phe193fs)
|
rs1231668679
|
|
NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg)
|
rs764138183
|
|
NM_174878.3(CLRN1):c.64dup (p.Leu22fs)
|
|
|
NM_174878.3(CLRN1):c.65T>A (p.Leu22His)
|
rs1576651623
|
|
NM_174878.3(CLRN1):c.661G>A (p.Ala221Thr)
|
|
|
NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg)
|
rs2107927490
|
|
NM_174878.3(CLRN1):c.96del (p.Leu32fs)
|
|
|
NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)
|
rs762406780
|
|
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
|
|
|
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
|
|
|
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
|
|
|
NM_206933.2(USH2A):c.1644+10004_1972-12164del
|
|
|
NM_206933.2(USH2A):c.4396+6857_6486-425del
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.2(USH2A):c.850_853delGAGA
|
rs1188025733
|
|
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
|
|
|
NM_206933.2(USH2A):c.[2299del;4714C>T]
|
|
|
NM_206933.2:c.6326-3582_6658-1028del
|
|
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.4(USH2A):c.*4A>G
|
rs530405236
|
|
NM_206933.4(USH2A):c.-159G>C
|
rs886045955
|
|
NM_206933.4(USH2A):c.-181C>T
|
rs866904288
|
|
NM_206933.4(USH2A):c.-1C>G
|
rs547139318
|
|
NM_206933.4(USH2A):c.-289C>A
|
rs886045956
|
|
NM_206933.4(USH2A):c.-289C>T
|
rs886045956
|
|
NM_206933.4(USH2A):c.-4A>G
|
rs2039693971
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)
|
rs2527440026
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.10179del (p.Met3393fs)
|
rs1553262411
|
|
NM_206933.4(USH2A):c.10182+2T>G
|
|
|
NM_206933.4(USH2A):c.10183-1375_10387+1389del
|
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln)
|
rs2039690682
|
|
NM_206933.4(USH2A):c.10211del (p.Pro3404fs)
|
rs1571686349
|
|
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly)
|
rs527236140
|
|
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.10317_10318delinsT (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
rs1167540054
|
|
NM_206933.4(USH2A):c.10350_10354del (p.Ile3451fs)
|
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
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.1039_1041del (p.Asp347del)
|
rs1553250786
|
|
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)
|
rs530322386
|
|
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.10465G>A (p.Ala3489Thr)
|
rs1553261464
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
|
rs2464394481
|
|
NM_206933.4(USH2A):c.10511C>T (p.Pro3504Leu)
|
rs745651002
|
|
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg)
|
rs2102763446
|
|
NM_206933.4(USH2A):c.10534A>C (p.Asn3512His)
|
rs758985068
|
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
|
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
|
rs2464394078
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10586-1G>A
|
|
|
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs)
|
rs1553261387
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
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.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
NM_206933.4(USH2A):c.10663G>T (p.Glu3555Ter)
|
|
|
NM_206933.4(USH2A):c.10666G>A (p.Gly3556Arg)
|
rs1661660762
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
|
rs144560419
|
|
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=)
|
rs1661658126
|
|
NM_206933.4(USH2A):c.10740+7G>A
|
rs201206110
|
|
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.10817T>C (p.Leu3606Pro)
|
rs1402464909
|
|
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs)
|
rs1553261118
|
|
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
|
rs769795486
|
|
NM_206933.4(USH2A):c.1090C>T (p.Gln364Ter)
|
|
|
NM_206933.4(USH2A):c.10939+2T>G
|
rs1661573417
|
|
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu)
|
rs1238814587
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal)
|
rs1553259182
|
|
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
|
rs2465090971
|
|
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs)
|
rs1553259179
|
|
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.11174del (p.Phe3725fs)
|
rs1571657875
|
|
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly)
|
rs1341032857
|
|
NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile)
|
rs1416382590
|
|
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val)
|
rs2102742157
|
|
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)
|
rs1571657777
|
|
NM_206933.4(USH2A):c.11228G>A (p.Ser3743Asn)
|
rs112898958
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+1G>T
|
rs111033382
|
|
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)
|
rs768062696
|
|
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr)
|
rs773373939
|
|
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs)
|
rs1553259060
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11367_11368del (p.Phe3790fs)
|
|
|
NM_206933.4(USH2A):c.11389+14del
|
rs79494833
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
NM_206933.4(USH2A):c.11390-1G>A
|
rs2102727580
|
|
NM_206933.4(USH2A):c.11390-24CT[7]
|
rs140003076
|
|
NM_206933.4(USH2A):c.11390-24CT[8]
|
rs140003076
|
|
NM_206933.4(USH2A):c.11390-2del
|
rs760100733
|
|
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.11434_11436del (p.Asn3812del)
|
rs1553257704
|
|
NM_206933.4(USH2A):c.1144-1G>A
|
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.1150del (p.Tyr384fs)
|
|
|
NM_206933.4(USH2A):c.11520T>G (p.Tyr3840Ter)
|
|
|
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro)
|
rs1553257674
|
|
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)
|
rs1553257673
|
|
NM_206933.4(USH2A):c.11549-5del
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549-5dup
|
rs34565443
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)
|
rs35309576
|
|
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)
|
rs2465067641
|
|
NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter)
|
rs2465067612
|
|
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.11694del (p.Asn3899fs)
|
rs1553257502
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.11703del (p.Phe3901fs)
|
rs1553257497
|
|
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
|
rs2527436614
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.11712-2A>G
|
rs753505333
|
|
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val)
|
rs1659895227
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs)
|
rs1553256587
|
|
NM_206933.4(USH2A):c.11806A>C (p.Thr3936Pro)
|
rs2102713705
|
|
NM_206933.4(USH2A):c.1180C>A (p.Pro394Thr)
|
rs2037684727
|
|
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs)
|
rs1553256576
|
|
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.11897_12003del (p.Gln3966fs)
|
rs1659881415
|
|
NM_206933.4(USH2A):c.12011A>G (p.Glu4004Gly)
|
|
|
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
|
rs866937010
|
|
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=)
|
rs752752496
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12067-31del
|
rs5780842
|
|
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter)
|
rs527236138
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
NM_206933.4(USH2A):c.12100G>T (p.Glu4034Ter)
|
rs794729203
|
|
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)
|
rs1571953449
|
|
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del)
|
rs1553252937
|
|
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del)
|
rs1553252931
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
|
rs1658182041
|
|
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
|
rs2464914796
|
|
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.12265G>A (p.Glu4089Lys)
|
rs1658179050
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12274del (p.Arg4092fs)
|
rs1558051141
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.12309del (p.Phe4103fs)
|
rs1553252528
|
|
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)
|
rs2464901141
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)
|
rs2527436323
|
|
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
|
rs2037681648
|
|
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)
|
rs757525434
|
|
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12384C>A (p.Tyr4128Ter)
|
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)
|
rs2464900474
|
|
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.12505A>C (p.Thr4169Pro)
|
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
NM_206933.4(USH2A):c.12582C>T (p.Cys4194=)
|
rs1571949553
|
|
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys)
|
rs770065010
|
|
NM_206933.4(USH2A):c.1258G>A (p.Gly420Ser)
|
rs2037680211
|
|
NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)
|
rs1200661394
|
|
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
|
rs765606907
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.12602dup (p.Asn4202fs)
|
|
|
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
|
|
|
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)
|
rs577938494
|
|
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
|
rs2464898805
|
|
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)
|
rs1571949388
|
|
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)
|
rs397517981
|
|
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)
|
rs1553252489
|
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
NM_206933.4(USH2A):c.12747del (p.Cys4250fs)
|
|
|
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg)
|
rs1553252475
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter)
|
rs766491471
|
|
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
|
rs1657965422
|
|
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469
|
|
NM_206933.4(USH2A):c.12863C>A (p.Pro4288Gln)
|
rs1352720909
|
|
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.12892T>A (p.Tyr4298Asn)
|
rs1064797130
|
|
NM_206933.4(USH2A):c.12910G>A (p.Glu4304Lys)
|
rs1657961774
|
|
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys)
|
rs1657960533
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
|
rs2464897719
|
|
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
|
rs1657955894
|
|
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
|
rs1220617136
|
|
NM_206933.4(USH2A):c.1299T>C (p.Pro433=)
|
rs1571702060
|
|
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter)
|
rs367850936
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)
|
rs1163061829
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
|
rs2102665721
|
|
NM_206933.4(USH2A):c.1316T>C (p.Leu439Pro)
|
rs1558038097
|
|
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs)
|
rs1553252409
|
|
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys)
|
rs144200261
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val)
|
rs763576540
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13210del (p.Leu4404fs)
|
rs1190020491
|
|
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe)
|
rs146240320
|
|
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)
|
rs1657939866
|
|
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp)
|
rs775075026
|
|
NM_206933.4(USH2A):c.1328+37_1328+40del
|
rs145313346
|
|
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
|
rs2464896029
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs)
|
rs1553252389
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg)
|
rs1403832675
|
|
NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter)
|
rs2464895579
|
|
NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys)
|
rs1553250638
|
|
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn)
|
rs1657930957
|
|
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
|
rs774714334
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
|
rs1657929865
|
|
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
|
rs2464895063
|
|
NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs)
|
rs2464894855
|
|
NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)
|
rs2464894731
|
|
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)
|
rs1553252363
|
|
NM_206933.4(USH2A):c.13564C>T (p.Leu4522Phe)
|
rs1657923690
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg)
|
rs754560573
|
|
NM_206933.4(USH2A):c.13598C>A (p.Ser4533Ter)
|
|
|
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
|
rs1657920193
|
|
NM_206933.4(USH2A):c.13599del (p.Met4535fs)
|
rs2102664886
|
|
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.13646T>A (p.Leu4549Ter)
|
rs2464894203
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)
|
rs2102664776
|
|
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup)
|
rs1553252347
|
|
NM_206933.4(USH2A):c.13678G>A (p.Gly4560Ser)
|
|
|
NM_206933.4(USH2A):c.13700del (p.Leu4567fs)
|
rs1212608410
|
|
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met)
|
rs1416382135
|
|
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs)
|
rs1553252328
|
|
NM_206933.4(USH2A):c.13767T>A (p.Phe4589Leu)
|
rs2102664559
|
|
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His)
|
rs1350039852
|
|
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)
|
rs1571947757
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13811+2T>C
|
rs766515318
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys)
|
rs764431065
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=)
|
rs373694614
|
|
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu)
|
rs1657805631
|
|
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
|
rs1397044127
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)
|
rs150600947
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
|
rs2527434136
|
|
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)
|
rs761367363
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)
|
rs2102661317
|
|
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
|
rs1657799383
|
|
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)
|
rs1571945476
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
|
rs1657798642
|
|
NM_206933.4(USH2A):c.14065del (p.Ile4689fs)
|
|
|
NM_206933.4(USH2A):c.14110_14111del (p.Pro4704fs)
|
|
|
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)
|
rs1064797129
|
|
NM_206933.4(USH2A):c.14133G>T (p.Gln4711His)
|
|
|
NM_206933.4(USH2A):c.14134-1G>T
|
rs2464821346
|
|
NM_206933.4(USH2A):c.14134-9T>C
|
rs899521308
|
|
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)
|
rs1553250416
|
|
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp)
|
rs2102645078
|
|
NM_206933.4(USH2A):c.14171del (p.Ser4724fs)
|
|
|
NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)
|
rs760363179
|
|
NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter)
|
rs2464821210
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg)
|
rs1333608275
|
|
NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg)
|
rs370157230
|
|
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
|
rs1657036615
|
|
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.14288G>A (p.Gly4763Glu)
|
rs781195579
|
|
NM_206933.4(USH2A):c.14289del (p.Ile4764fs)
|
rs2102644832
|
|
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
|
rs2527434028
|
|
NM_206933.4(USH2A):c.14343+2T>G
|
|
|
NM_206933.4(USH2A):c.14344-1G>A
|
rs919142559
|
|
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
|
rs2527434001
|
|
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)
|
rs1571929573
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14409_14437del (p.Ile4803fs)
|
|
|
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
|
rs2464816066
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)
|
rs746985615
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
rs2464815839
|
|
NM_206933.4(USH2A):c.14489C>A (p.Ser4830Ter)
|
|
|
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)
|
rs41315587
|
|
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys)
|
rs200570742
|
|
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys)
|
rs781558053
|
|
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)
|
rs781558053
|
|
NM_206933.4(USH2A):c.1453A>G (p.Ile485Val)
|
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14583-1G>T
|
rs1417934743
|
|
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr)
|
rs2102642261
|
|
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.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
|
rs2464811892
|
|
NM_206933.4(USH2A):c.14679del (p.Ala4894fs)
|
rs1553250077
|
|
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly)
|
rs1469032409
|
|
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)
|
rs1553250072
|
|
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
|
rs2527433800
|
|
NM_206933.4(USH2A):c.14747del (p.Gly4916fs)
|
rs2102642087
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
NM_206933.4(USH2A):c.147T>C (p.Val49=)
|
rs1553258114
|
|
NM_206933.4(USH2A):c.14835del (p.Val4946fs)
|
rs2102636076
|
|
NM_206933.4(USH2A):c.14859C>T (p.Asp4953=)
|
rs1571923764
|
|
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp)
|
rs1656647412
|
|
NM_206933.4(USH2A):c.14878C>T (p.Gln4960Ter)
|
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452
|
|
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=)
|
rs397517993
|
|
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly)
|
rs147514366
|
|
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=)
|
rs568581229
|
|
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)
|
rs781625683
|
|
NM_206933.4(USH2A):c.14968+2T>G
|
rs1656640356
|
|
NM_206933.4(USH2A):c.14969-1G>A
|
rs1553249311
|
|
NM_206933.4(USH2A):c.14969-1G>C
|
|
|
NM_206933.4(USH2A):c.14969-1G>T
|
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del)
|
rs1553249310
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
|
rs2464784840
|
|
NM_206933.4(USH2A):c.14993C>A (p.Thr4998Lys)
|
|
|
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala)
|
rs1553249303
|
|
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
|
rs2527433665
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294
|
|
NM_206933.4(USH2A):c.15052+1G>A
|
rs1553249290
|
|
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.15104_15105del (p.Thr5035fs)
|
rs2102630677
|
|
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del)
|
rs1553248836
|
|
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.15147_15160del (p.Met5049fs)
|
rs1553248832
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
NM_206933.4(USH2A):c.15199del (p.Ile5067fs)
|
rs2102630527
|
|
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)
|
rs1426135314
|
|
NM_206933.4(USH2A):c.15216T>A (p.Tyr5072Ter)
|
|
|
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)
|
rs1571701072
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
NM_206933.4(USH2A):c.15260_15263dup (p.Leu5089fs)
|
rs2464771441
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
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.15331_15333del (p.Thr5111del)
|
rs766970587
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15385C>T (p.Gln5129Ter)
|
|
|
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter)
|
rs2464752503
|
|
NM_206933.4(USH2A):c.1546G>A (p.Gly516Arg)
|
|
|
NM_206933.4(USH2A):c.1551-1G>A
|
rs2037622753
|
|
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)
|
rs774383785
|
|
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)
|
rs779531682
|
|
NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
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.1586CAA[1] (p.Thr530del)
|
rs1553250409
|
|
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)
|
rs111033273
|
|
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
|
rs1195403033
|
|
NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter)
|
rs1558036860
|
|
NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter)
|
rs142282413
|
|
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter)
|
rs2102788946
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
NM_206933.4(USH2A):c.1645-2A>C
|
rs2528257197
|
|
NM_206933.4(USH2A):c.1645-2A>G
|
rs2528257197
|
|
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.1659del (p.Leu553fs)
|
rs2528257059
|
|
NM_206933.4(USH2A):c.1675A>C (p.Lys559Gln)
|
|
|
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>T (p.Cys575Phe)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1803del (p.Gly602fs)
|
rs1553327452
|
|
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu)
|
rs1427232199
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln)
|
rs938662688
|
|
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr)
|
rs2102610653
|
|
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)
|
rs768436928
|
|
NM_206933.4(USH2A):c.1841-1G>A
|
rs2102606531
|
|
NM_206933.4(USH2A):c.1841-1G>T
|
|
|
NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr)
|
rs2528250720
|
|
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)
|
rs777701725
|
|
NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter)
|
rs2528250682
|
|
NM_206933.4(USH2A):c.1888del (p.Ala630fs)
|
rs2102606427
|
|
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.1971+1G>T
|
rs2036950570
|
|
NM_206933.4(USH2A):c.1972-1G>T
|
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)
|
rs2036152207
|
|
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
|
rs2528172067
|
|
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly)
|
rs2102788868
|
|
NM_206933.4(USH2A):c.2002G>A (p.Val668Met)
|
rs1404273822
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2046T>G (p.Asn682Lys)
|
rs767262784
|
|
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)
|
rs376674482
|
|
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.2109T>G (p.Asp703Glu)
|
rs45555435
|
|
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser)
|
rs1304016981
|
|
NM_206933.4(USH2A):c.2168-1G>T
|
rs748961218
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg)
|
rs2102546492
|
|
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln)
|
rs778957703
|
|
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
|
rs2528163570
|
|
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)
|
rs1553320542
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
rs1052375050
|
|
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
|
rs1553320519
|
|
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)
|
rs2528163373
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
|
rs2528163140
|
|
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)
|
rs1553320498
|
|
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)
|
rs2036063892
|
|
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)
|
rs587776538
|
|
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
|
rs2528162873
|
|
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
|
rs2528162842
|
|
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)
|
rs2102545818
|
|
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del)
|
rs757082108
|
|
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
|
rs2102545764
|
|
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
|
rs2528162648
|
|
NM_206933.4(USH2A):c.2514A>G (p.Gln838=)
|
rs969374126
|
|
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
|
rs1403136669
|
|
NM_206933.4(USH2A):c.2534del (p.Leu845fs)
|
rs1572088481
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)
|
rs747033392
|
|
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)
|
rs1553320451
|
|
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)
|
rs2036055708
|
|
NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)
|
rs2527654209
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
|
rs2528161607
|
|
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
|
rs2102545092
|
|
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.2809+1G>C
|
rs759433119
|
|
NM_206933.4(USH2A):c.2809+2T>A
|
rs1553320397
|
|
NM_206933.4(USH2A):c.2810-1G>A
|
rs778336512
|
|
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.2829C>A (p.Gly943=)
|
rs397518007
|
|
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
|
rs754932972
|
|
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
|
rs2528126907
|
|
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg)
|
rs762059922
|
|
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
|
rs2528126766
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
|
rs2528126437
|
|
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter)
|
rs527236135
|
|
NM_206933.4(USH2A):c.298del (p.Leu100fs)
|
|
|
NM_206933.4(USH2A):c.2994-10T>G
|
rs748702655
|
|
NM_206933.4(USH2A):c.2994-1G>C
|
|
|
NM_206933.4(USH2A):c.2994-2A>G
|
rs1553316430
|
|
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)
|
rs1553316429
|
|
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)
|
rs2102496508
|
|
NM_206933.4(USH2A):c.3004del (p.Cys1002fs)
|
rs1572060089
|
|
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)
|
rs1572060087
|
|
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)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
|
rs150729680
|
|
NM_206933.4(USH2A):c.302del (p.Phe101fs)
|
rs1553258076
|
|
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
|
rs2528087541
|
|
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
|
rs2528087518
|
|
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
|
rs2528087514
|
|
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr)
|
rs762711963
|
|
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
|
rs1396798963
|
|
NM_206933.4(USH2A):c.3129dup (p.Val1044fs)
|
rs786205115
|
|
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
NM_206933.4(USH2A):c.3158-1G>T
|
rs1231186035
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3158-47_3158-17del
|
rs1553315049
|
|
NM_206933.4(USH2A):c.3158-6A>G
|
rs397518010
|
|
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.3199TCT[1] (p.Ser1068del)
|
rs1461275915
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr)
|
rs1553314999
|
|
NM_206933.4(USH2A):c.3267_3268insTTCT (p.Leu1090fs)
|
|
|
NM_206933.4(USH2A):c.3316+6T>C
|
rs373631038
|
|
NM_206933.4(USH2A):c.3317-14del
|
rs376363548
|
|
NM_206933.4(USH2A):c.3317-1G>A
|
rs1553313909
|
|
NM_206933.4(USH2A):c.3317-25dup
|
rs376363548
|
|
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
|
rs2528047332
|
|
NM_206933.4(USH2A):c.3334_3336delinsTGGTA (p.Asp1112fs)
|
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.3405G>A (p.Arg1135=)
|
rs372843685
|
|
NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly)
|
rs2034947671
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3409G>A (p.Val1137Ile)
|
rs914071757
|
|
NM_206933.4(USH2A):c.3435del (p.Val1147fs)
|
rs397518012
|
|
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
|
rs2528046714
|
|
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs)
|
rs1553313844
|
|
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
|
rs2528046555
|
|
NM_206933.4(USH2A):c.3518C>A (p.Ser1173Ter)
|
|
|
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
|
rs2528046473
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
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.3623G>A (p.Trp1208Ter)
|
rs2528046090
|
|
NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter)
|
rs147947402
|
|
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
|
rs2034940102
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=)
|
rs376090043
|
|
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793
|
|
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
|
rs2528045805
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr)
|
rs373698501
|
|
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364
|
|
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu)
|
rs886045954
|
|
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
|
rs2528045056
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
rs989235522
|
|
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del)
|
rs1215540106
|
|
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
|
rs2528042112
|
|
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)
|
rs2034908088
|
|
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.3891del (p.Gln1298fs)
|
rs1553313551
|
|
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
|
rs2528041806
|
|
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
|
rs2102464166
|
|
NM_206933.4(USH2A):c.3959del (p.Pro1320fs)
|
|
|
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer)
|
rs527236136
|
|
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
|
rs2528041334
|
|
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=)
|
rs727503733
|
|
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
|
rs2527653911
|
|
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu)
|
rs778505422
|
|
NM_206933.4(USH2A):c.4037_4038insC (p.Ser1347fs)
|
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.4081+2T>C
|
rs1553313505
|
|
NM_206933.4(USH2A):c.4082-2A>G
|
rs1553313340
|
|
NM_206933.4(USH2A):c.4087del (p.Val1363fs)
|
rs2102460761
|
|
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr)
|
rs2102460604
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser)
|
rs752569816
|
|
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del)
|
rs773595155
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)
|
rs2034850724
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
|
rs2528035466
|
|
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
|
rs2034849647
|
|
NM_206933.4(USH2A):c.4213C>T (p.Gln1405Ter)
|
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
NM_206933.4(USH2A):c.4251+1G>A
|
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.4252-1G>A
|
rs2528020496
|
|
NM_206933.4(USH2A):c.4252-36CTTT[5]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4252-36CTTT[7]
|
rs372388546
|
|
NM_206933.4(USH2A):c.4253del (p.Leu1418fs)
|
|
|
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys)
|
rs886045952
|
|
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro)
|
rs369185265
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4325T>C (p.Phe1442Ser)
|
rs766108245
|
|
NM_206933.4(USH2A):c.4328C>T (p.Thr1443Ile)
|
rs772742405
|
|
NM_206933.4(USH2A):c.432G>A (p.Leu144=)
|
rs760787084
|
|
NM_206933.4(USH2A):c.4335T>G (p.Thr1445=)
|
rs397518016
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4356T>A (p.Cys1452Ter)
|
|
|
NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs)
|
rs2528020132
|
|
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)
|
rs1553312493
|
|
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4396+2T>G
|
rs2034687381
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
|
rs2527987922
|
|
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
|
|
|
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
|
rs2034357761
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4515_4518del (p.Arg1505fs)
|
|
|
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer)
|
rs1553310736
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
NM_206933.4(USH2A):c.4601_4604delinsGT (p.Thr1534fs)
|
|
|
NM_206933.4(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896
|
|
NM_206933.4(USH2A):c.4627+1205_4627+1208del
|
rs751661540
|
|
NM_206933.4(USH2A):c.4627+28A>G
|
rs773190850
|
|
NM_206933.4(USH2A):c.4627+330A>G
|
rs886045949
|
|
NM_206933.4(USH2A):c.4627+36C>T
|
rs577393945
|
|
NM_206933.4(USH2A):c.4627+442C>G
|
rs1037400670
|
|
NM_206933.4(USH2A):c.4627+512G>A
|
rs2034341678
|
|
NM_206933.4(USH2A):c.4627+589C>A
|
rs886045948
|
|
NM_206933.4(USH2A):c.4627+813C>T
|
rs192047831
|
|
NM_206933.4(USH2A):c.4627+945AT[3]
|
rs886045946
|
|
NM_206933.4(USH2A):c.4627+974T>C
|
rs2034329165
|
|
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
|
rs2527835936
|
|
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)
|
rs2527835876
|
|
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=)
|
rs727503729
|
|
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val)
|
rs111033333
|
|
NM_206933.4(USH2A):c.473_474del (p.Gln158fs)
|
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
NM_206933.4(USH2A):c.4758+1G>A
|
rs751414710
|
|
NM_206933.4(USH2A):c.4758+1del
|
rs2102572705
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.485+3A>T
|
rs1553258031
|
|
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter)
|
rs746900872
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.486-2A>C
|
rs2527646544
|
|
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val)
|
rs2032219588
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
|
rs2032147505
|
|
NM_206933.4(USH2A):c.4987G>T (p.Glu1663Ter)
|
|
|
NM_206933.4(USH2A):c.4988-1G>C
|
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His)
|
rs2032076681
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp)
|
rs2102561202
|
|
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
|
rs528113865
|
|
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala)
|
rs2032067781
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val)
|
rs1381827718
|
|
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
|
rs2527805362
|
|
NM_206933.4(USH2A):c.5218del (p.Ile1740fs)
|
rs2032019895
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
rs767820497
|
|
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu)
|
rs2102559662
|
|
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
|
rs2527804925
|
|
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs)
|
rs2102559650
|
|
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro)
|
rs2102559645
|
|
NM_206933.4(USH2A):c.5298+1G>C
|
|
|
NM_206933.4(USH2A):c.532dup (p.Thr178fs)
|
rs1571801788
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val)
|
rs768237382
|
|
NM_206933.4(USH2A):c.5385T>A (p.Tyr1795Ter)
|
rs2102554465
|
|
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly)
|
rs777011507
|
|
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly)
|
rs1553299065
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs)
|
rs1553299046
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)
|
rs1571941511
|
|
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)
|
rs1553299022
|
|
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs)
|
rs2102554196
|
|
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
|
rs763831329
|
|
NM_206933.4(USH2A):c.5561_5572+7dup
|
rs1553299014
|
|
NM_206933.4(USH2A):c.5573-34del
|
rs35944387
|
|
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
|
rs2527778579
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
NM_206933.4(USH2A):c.566G>A (p.Arg189His)
|
rs747767544
|
|
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu)
|
rs747767544
|
|
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.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.5759del (p.Gly1920fs)
|
|
|
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
|
rs2039616380
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5776+9G>T
|
rs1405078779
|
|
NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys)
|
rs1404685640
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
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.5831G>A (p.Trp1944Ter)
|
rs2527776733
|
|
NM_206933.4(USH2A):c.5835_5836dup (p.Arg1946fs)
|
rs1221017154
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5866del (p.Ser1956fs)
|
|
|
NM_206933.4(USH2A):c.5869_5870delinsTA (p.Val1957Ter)
|
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs)
|
rs1553297684
|
|
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
|
rs2527770006
|
|
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.5977A>G (p.Ser1993Gly)
|
|
|
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
|
rs781022362
|
|
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
|
rs750260175
|
|
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
|
rs2527725818
|
|
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.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
|
rs2039614529
|
|
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.6163+1G>A
|
rs2030617696
|
|
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.6223del (p.Trp2075fs)
|
|
|
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys)
|
rs1553294134
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs)
|
rs2102524828
|
|
NM_206933.4(USH2A):c.6325+1G>A
|
rs1293202153
|
|
NM_206933.4(USH2A):c.6326-10882_6326-10769del
|
rs2102492616
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
NM_206933.4(USH2A):c.6326-3_6332del
|
rs1553287116
|
|
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)
|
rs727504893
|
|
NM_206933.4(USH2A):c.6354del (p.Leu2119fs)
|
rs2102483305
|
|
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=)
|
rs773734876
|
|
NM_206933.4(USH2A):c.6379_6380delinsC (p.Gly2127fs)
|
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
NM_206933.4(USH2A):c.647T>G (p.Val216Gly)
|
rs1571801514
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
NM_206933.4(USH2A):c.6485+5G>A
|
rs1668240410
|
|
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
|
|
NM_206933.4(USH2A):c.6488G>A (p.Trp2163Ter)
|
rs763389877
|
|
NM_206933.4(USH2A):c.651+15A>G
|
rs765252898
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
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.6520G>T (p.Glu2174Ter)
|
rs2527619261
|
|
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=)
|
rs560847831
|
|
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
|
rs2527531653
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6638_6641del (p.Lys2213fs)
|
rs2527618865
|
|
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=)
|
rs1487136272
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|
NM_206933.4(USH2A):c.6657+2T>C
|
rs2102481774
|
|
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs)
|
rs1553285970
|
|
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr)
|
rs562492049
|
|
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
|
rs2038569132
|
|
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs)
|
rs1553285944
|
|
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6711C>T (p.Asp2237=)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=)
|
rs766287712
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
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.6806-3C>T
|
rs775703386
|
|
NM_206933.4(USH2A):c.6806-9473C>A
|
rs207461105
|
|
NM_206933.4(USH2A):c.6810del (p.Ile2271fs)
|
rs1553282707
|
|
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
|
rs1226437991
|
|
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)
|
rs2102458475
|
|
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs)
|
rs1553282698
|
|
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.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.6905del (p.His2302fs)
|
rs2102458388
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
rs2527531520
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.7037A>G (p.His2346Arg)
|
rs776390437
|
|
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
|
rs2527531515
|
|
NM_206933.4(USH2A):c.7045dup (p.Trp2349fs)
|
rs2527554359
|
|
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
|
rs2527554353
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7082_7083del (p.His2361fs)
|
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs)
|
rs1553281890
|
|
NM_206933.4(USH2A):c.7120+1G>A
|
rs1667311758
|
|
NM_206933.4(USH2A):c.7121-14del
|
rs536181325
|
|
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)
|
rs1553277866
|
|
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)
|
rs376983577
|
|
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs)
|
rs2102499717
|
|
NM_206933.4(USH2A):c.7203G>T (p.Gly2401=)
|
rs769558676
|
|
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.732T>C (p.Gly244=)
|
rs576466805
|
|
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala)
|
rs1553274535
|
|
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
|
rs2527531361
|
|
NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)
|
rs2464785255
|
|
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.7428C>A (p.Gly2476=)
|
rs150372183
|
|
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=)
|
rs150372183
|
|
NM_206933.4(USH2A):c.7447del (p.Phe2482_Leu2483insTer)
|
|
|
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
|
rs2464782700
|
|
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys)
|
rs754310768
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
|
rs1558151555
|
|
NM_206933.4(USH2A):c.7506del (p.Tyr2503fs)
|
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7531del (p.Val2511fs)
|
rs1553274435
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7569G>A (p.Trp2523Ter)
|
rs2102469493
|
|
NM_206933.4(USH2A):c.7594+1G>A
|
rs1558151466
|
|
NM_206933.4(USH2A):c.7595-1G>A
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-2A>G
|
rs1064795047
|
|
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.7765C>G (p.His2589Asp)
|
rs747492773
|
|
NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter)
|
rs2464750216
|
|
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)
|
rs766915522
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7871del (p.Pro2624fs)
|
rs1558146453
|
|
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly)
|
rs1175968972
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met)
|
rs1338661803
|
|
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.793C>T (p.Gln265Ter)
|
rs1458430039
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
|
rs1301139848
|
|
NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter)
|
rs2102460193
|
|
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly)
|
rs267598377
|
|
NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe)
|
rs1205473124
|
|
NM_206933.4(USH2A):c.8064T>C (p.Ser2688=)
|
rs1456443971
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)
|
rs768367348
|
|
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
|
rs2464747975
|
|
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser)
|
rs768532694
|
|
NM_206933.4(USH2A):c.8194G>C (p.Val2732Leu)
|
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8224-1G>C
|
rs1664846558
|
|
NM_206933.4(USH2A):c.8224-6T>C
|
|
|
NM_206933.4(USH2A):c.8224-6T>G
|
rs1664846600
|
|
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
|
rs2102452018
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del)
|
rs1553272199
|
|
NM_206933.4(USH2A):c.8266del (p.Ser2756fs)
|
rs1558141330
|
|
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)
|
rs1188281491
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
|
rs2464717567
|
|
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe)
|
rs1413784848
|
|
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)
|
rs767155952
|
|
NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter)
|
rs1664842535
|
|
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs)
|
rs2102451863
|
|
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.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu)
|
rs756866344
|
|
NM_206933.4(USH2A):c.8391del (p.Gly2799fs)
|
rs1553272176
|
|
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala)
|
rs886044303
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.8471T>C (p.Val2824Ala)
|
|
|
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly)
|
rs2102658767
|
|
NM_206933.4(USH2A):c.848+2T>C
|
rs2102658759
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_206933.4(USH2A):c.849-2A>G
|
rs2102656326
|
|
NM_206933.4(USH2A):c.849-4A>G
|
rs765189933
|
|
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=)
|
rs753719500
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
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.8576G>C (p.Arg2859Pro)
|
rs778272177
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
|
rs2464713058
|
|
NM_206933.4(USH2A):c.8668_8669dup (p.Gly2891fs)
|
rs2464713052
|
|
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val)
|
rs1664810364
|
|
NM_206933.4(USH2A):c.8681+1G>C
|
rs876657733
|
|
NM_206933.4(USH2A):c.8681G>T (p.Arg2894Met)
|
|
|
NM_206933.4(USH2A):c.8682-17A>G
|
rs1553271011
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8682-5T>C
|
rs1664495207
|
|
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile)
|
rs1664494411
|
|
NM_206933.4(USH2A):c.868T>C (p.Ser290Pro)
|
|
|
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)
|
rs1553270997
|
|
NM_206933.4(USH2A):c.8714dup (p.His2905fs)
|
rs2102440764
|
|
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)
|
rs1571762632
|
|
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)
|
rs374146074
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
rs746586128
|
|
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=)
|
rs371183424
|
|
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu)
|
rs780358747
|
|
NM_206933.4(USH2A):c.8800_8801del (p.Ser2934fs)
|
|
|
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)
|
rs1553270960
|
|
NM_206933.4(USH2A):c.8845+1G>A
|
rs1553270954
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8846-2A>G
|
rs1553268594
|
|
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
|
rs2464612427
|
|
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)
|
rs786205116
|
|
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr)
|
rs1048801397
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.895del (p.Gln299fs)
|
rs1338169194
|
|
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)
|
rs886043586
|
|
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu)
|
rs2037715022
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206933.4(USH2A):c.9055+2T>A
|
|
|
NM_206933.4(USH2A):c.9055+5G>A
|
|
|
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
|
rs2464610781
|
|
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
|
rs748465849
|
|
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del)
|
rs764038940
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)
|
rs1188663543
|
|
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
|
rs760448755
|
|
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala)
|
rs754391322
|
|
NM_206933.4(USH2A):c.9145del (p.Val3049fs)
|
|
|
NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)
|
rs1663780024
|
|
NM_206933.4(USH2A):c.9191del (p.Thr3064fs)
|
rs1553268435
|
|
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile)
|
rs1553250805
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs)
|
rs1553268434
|
|
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.9315del (p.Val3106fs)
|
rs2464586115
|
|
NM_206933.4(USH2A):c.9319G>T (p.Glu3107Ter)
|
rs2464586085
|
|
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.9379C>T (p.Gln3127Ter)
|
rs2464521290
|
|
NM_206933.4(USH2A):c.9391dup (p.Val3131fs)
|
rs2102796558
|
|
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter)
|
rs1662880750
|
|
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)
|
rs1553265829
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
|
rs2102796411
|
|
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238
|
|
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)
|
rs2102796345
|
|
NM_206933.4(USH2A):c.951del (p.Tyr318fs)
|
|
|
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
|
rs1553265812
|
|
NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
|
rs36108227
|
|
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser)
|
rs752996514
|
|
NM_206933.4(USH2A):c.956G>T (p.Cys319Phe)
|
rs121912599
|
|
NM_206933.4(USH2A):c.956del (p.Cys319fs)
|
rs2527440288
|
|
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs)
|
rs2102793202
|
|
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
|
rs2464509726
|
|
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del)
|
rs756735388
|
|
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
|
rs1662772955
|
|
NM_206933.4(USH2A):c.9685del (p.Glu3229fs)
|
rs878853233
|
|
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
|
rs1662771528
|
|
NM_206933.4(USH2A):c.9699del (p.His3234fs)
|
rs2464509136
|
|
NM_206933.4(USH2A):c.9739+1G>C
|
rs2102792994
|
|
NM_206933.4(USH2A):c.9801C>G (p.Cys3267Trp)
|
|
|
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.9827C>A (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)
|
rs2102778615
|
|
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
|
rs780036975
|
|
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
|
rs1445411802
|
|
NM_206933.4(USH2A):c.9921T>A (p.Cys3307Ter)
|
|
|
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del)
|
rs773436260
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9945dup (p.Asn3316fs)
|
rs2464453903
|
|
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
|
|
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)
|
rs2527440081
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|
NP_000251.3(MYO7A):p.Tyr1302fsTer97
|
|
|
NP_005700.2(USH1C):p.Arg357Trp
|
|
|
Single allele
|
|
|