ClinVar Miner

List of variants studied for Usher syndrome

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7577
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HGVS dbSNP gnomAD frequency
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

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