NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
NM_174878.3(CLRN1):c.*298T>C
|
rs769104257
|
0.00900
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
NM_173477.5(USH1G):c.*680C>G
|
rs55744500
|
0.00734
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_001195794.1(CLRN1):c.-289G>A
|
rs55842922
|
0.00630
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met)
|
rs188498736
|
0.00561
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753
|
0.00500
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00488
|
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)
|
rs148097083
|
0.00484
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00467
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00423
|
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro)
|
rs181475191
|
0.00421
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851
|
0.00420
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455
|
0.00391
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375
|
0.00385
|
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)
|
rs376497158
|
0.00379
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743
|
0.00372
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_032119.4(ADGRV1):c.*259A>G
|
rs147905321
|
0.00365
|
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
|
rs79572315
|
0.00364
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709
|
0.00336
|
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_022124.6(CDH23):c.7722C>T (p.Tyr2574=)
|
rs111033483
|
0.00295
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942
|
0.00290
|
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)
|
rs41281318
|
0.00285
|
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)
|
rs35429535
|
0.00276
|
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_032119.4(ADGRV1):c.17856+11G>A
|
rs187039736
|
0.00270
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00267
|
NM_001384140.1(PCDH15):c.4368-1535T>C
|
rs142158601
|
0.00260
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947
|
0.00245
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387
|
0.00242
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
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_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)
|
rs199873924
|
0.00221
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
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_032119.4(ADGRV1):c.11568T>C (p.Val3856=)
|
rs143004930
|
0.00205
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662
|
0.00189
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
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_015404.4(WHRN):c.1305C>T (p.Asn435=)
|
rs150407952
|
0.00177
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_000260.4(MYO7A):c.*38G>A
|
rs149296177
|
0.00172
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
NM_206933.4(USH2A):c.4627+562C>T
|
rs769348449
|
0.00169
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_206933.4(USH2A):c.4627+1133G>A
|
rs138139294
|
0.00167
|
NM_022124.6(CDH23):c.*478G>C
|
rs564392413
|
0.00166
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_206933.4(USH2A):c.4627+281T>C
|
rs570544314
|
0.00163
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)
|
rs61999270
|
0.00151
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=)
|
rs61741955
|
0.00145
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
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_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_001195794.1(CLRN1):c.-91C>T
|
rs73155722
|
0.00135
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00135
|
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_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
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_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_174878.3(CLRN1):c.*93T>C
|
rs567265508
|
0.00128
|
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)
|
rs186639101
|
0.00126
|
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu)
|
rs200897149
|
0.00125
|
NM_022124.6(CDH23):c.5067+15G>A
|
rs367928867
|
0.00124
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)
|
rs61900036
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_022124.6(CDH23):c.2954-15C>T
|
rs376377077
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
NM_022124.6(CDH23):c.1140+14T>C
|
rs376753769
|
0.00113
|
NM_153676.4(USH1C):c.-71T>G
|
rs571065113
|
0.00109
|
NM_173477.5(USH1G):c.*49C>T
|
rs199648830
|
0.00109
|
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=)
|
rs372846962
|
0.00108
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
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_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_022124.6(CDH23):c.-15C>A
|
rs760922529
|
0.00101
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)
|
rs201644674
|
0.00099
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
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.8980-12C>T
|
rs111583276
|
0.00095
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00091
|
NM_153676.4(USH1C):c.*241C>G
|
rs551263680
|
0.00091
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
NM_015404.4(WHRN):c.-583C>T
|
rs755158483
|
0.00090
|
NM_022124.6(CDH23):c.387G>A (p.Ala129=)
|
rs201919232
|
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_206933.4(USH2A):c.3157+12C>T
|
rs199853422
|
0.00088
|
NM_174878.3(CLRN1):c.*275A>G
|
rs570356810
|
0.00087
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
NM_015404.4(WHRN):c.1992G>A (p.Pro664=)
|
rs142568702
|
0.00084
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_001384140.1(PCDH15):c.-288T>C
|
rs566733932
|
0.00081
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_153676.4(USH1C):c.114C>T (p.Asp38=)
|
rs137962152
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
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.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
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_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743
|
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_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
NM_173477.5(USH1G):c.*279G>T
|
rs886053387
|
0.00067
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)
|
rs145448362
|
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_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229
|
0.00064
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543
|
0.00064
|
NM_206933.4(USH2A):c.4627+801C>G
|
rs41277222
|
0.00064
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00063
|
NM_015404.4(WHRN):c.2322C>T (p.Ser774=)
|
rs55966714
|
0.00062
|
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)
|
rs200435877
|
0.00062
|
NM_001164375.3(C10orf105):c.*3111C>T
|
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_153676.4(USH1C):c.1086-13G>T
|
rs200490320
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
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_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_000260.4(MYO7A):c.4668G>A (p.Pro1556=)
|
rs376892582
|
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_032119.4(ADGRV1):c.4128C>T (p.Asp1376=)
|
rs373730163
|
0.00056
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
NM_206933.4(USH2A):c.4627+411A>G
|
rs772732997
|
0.00056
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000260.4(MYO7A):c.-154G>A
|
rs545774605
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
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.1075G>A (p.Val359Ile)
|
rs147500559
|
0.00053
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_015404.4(WHRN):c.2510G>A (p.Arg837His)
|
rs55749855
|
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_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn)
|
rs147283064
|
0.00052
|
NM_000260.4(MYO7A):c.486C>T (p.Ala162=)
|
rs367687624
|
0.00051
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)
|
rs148530934
|
0.00051
|
NM_022124.6(CDH23):c.67+8C>T
|
rs186548927
|
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_022124.6(CDH23):c.9335T>C (p.Ile3112Thr)
|
rs201359237
|
0.00050
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
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.2745C>T (p.Ile915=)
|
rs183220886
|
0.00048
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00048
|
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
|
rs145499180
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
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.15169C>T (p.Pro5057Ser)
|
rs183633457
|
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_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)
|
rs201195495
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00045
|
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_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)
|
rs202101019
|
0.00044
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
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_022124.6(CDH23):c.*76G>A
|
rs545047958
|
0.00043
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
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_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=)
|
rs140664109
|
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_022124.6(CDH23):c.2128A>G (p.Ile710Val)
|
rs367750869
|
0.00040
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_015404.4(WHRN):c.-483G>A
|
rs886063374
|
0.00039
|
NM_015404.4(WHRN):c.1161G>A (p.Ser387=)
|
rs201105262
|
0.00039
|
NM_022124.6(CDH23):c.2163C>T (p.Ile721=)
|
rs192326086
|
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_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00038
|
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=)
|
rs202030777
|
0.00038
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
NM_000260.4(MYO7A):c.735+3G>A
|
rs371398512
|
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_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_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146
|
0.00036
|
NM_001384140.1(PCDH15):c.4368-1519A>G
|
rs532994771
|
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_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln)
|
rs199918940
|
0.00035
|
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_015404.4(WHRN):c.1887G>A (p.Pro629=)
|
rs143443833
|
0.00035
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811
|
0.00035
|
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=)
|
rs373457993
|
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.662A>G (p.Asn221Ser)
|
rs139547641
|
0.00034
|
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)
|
rs374156784
|
0.00034
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309
|
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_000260.4(MYO7A):c.2282+5G>A
|
rs540145750
|
0.00033
|
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=)
|
rs370568585
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
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_001384140.1(PCDH15):c.4203-8C>G
|
rs200840022
|
0.00031
|
NM_001384140.1(PCDH15):c.4368-1262G>A
|
rs187860910
|
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.6377G>A (p.Arg2126His)
|
rs201942629
|
0.00031
|
NM_032119.4(ADGRV1):c.*101T>C
|
rs41315918
|
0.00031
|
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)
|
rs61745496
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)
|
rs147023536
|
0.00031
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)
|
rs200328570
|
0.00030
|
NM_000260.4(MYO7A):c.1960C>T (p.Arg654Cys)
|
rs201928014
|
0.00029
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
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_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_032119.4(ADGRV1):c.-44C>T
|
rs192362302
|
0.00029
|
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=)
|
rs117641264
|
0.00029
|
NM_153676.4(USH1C):c.2487C>T (p.Gly829=)
|
rs142801489
|
0.00029
|
NM_173477.5(USH1G):c.*482C>T
|
rs75035213
|
0.00029
|
NM_174878.3(CLRN1):c.*835G>T
|
rs558161150
|
0.00029
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
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_000260.4(MYO7A):c.2181T>C (p.Phe727=)
|
rs373656667
|
0.00028
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
NM_001384140.1(PCDH15):c.3502-6G>A
|
rs749897896
|
0.00028
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
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_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.3022+8T>C
|
rs375286987
|
0.00027
|
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
|
rs138640647
|
0.00027
|
NM_206933.4(USH2A):c.7416G>A (p.Gln2472=)
|
rs145783712
|
0.00027
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351
|
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.1637G>A (p.Arg546Gln)
|
rs199508694
|
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_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)
|
rs200584854
|
0.00026
|
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=)
|
rs367768061
|
0.00026
|
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)
|
rs137963595
|
0.00026
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
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_022124.6(CDH23):c.-55G>A
|
rs939943382
|
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.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00025
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
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_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)
|
rs148162562
|
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_015404.4(WHRN):c.-595G>A
|
rs1030140507
|
0.00024
|
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)
|
rs139337135
|
0.00024
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
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_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
NM_000260.4(MYO7A):c.514C>T (p.Leu172=)
|
rs368246776
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
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.313C>T (p.Leu105Phe)
|
rs375083165
|
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_000260.4(MYO7A):c.2208G>A (p.Leu736=)
|
rs373599360
|
0.00022
|
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=)
|
rs185748200
|
0.00022
|
NM_001384140.1(PCDH15):c.1649T>G (p.Val550Gly)
|
rs61735482
|
0.00022
|
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu)
|
rs144878400
|
0.00022
|
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)
|
rs369697366
|
0.00022
|
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)
|
rs201475256
|
0.00022
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385
|
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.7717C>T (p.Arg2573Cys)
|
rs140983855
|
0.00022
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00022
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile)
|
rs374655803
|
0.00021
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=)
|
rs367738288
|
0.00021
|
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)
|
rs111033499
|
0.00021
|
NM_022124.6(CDH23):c.*56G>A
|
rs756856139
|
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.6421A>G (p.Arg2141Gly)
|
rs376414352
|
0.00021
|
NM_022124.6(CDH23):c.8901T>G (p.Arg2967=)
|
rs375720093
|
0.00021
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00021
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00021
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
NM_000260.4(MYO7A):c.19-9C>T
|
rs368452072
|
0.00020
|
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln)
|
rs186990940
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=)
|
rs376952695
|
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_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00019
|
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.3858G>A (p.Ala1286=)
|
rs372623270
|
0.00019
|
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)
|
rs727505004
|
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.4040C>T (p.Thr1347Met)
|
rs371125497
|
0.00019
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His)
|
rs747488431
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_032119.4(ADGRV1):c.10550-7C>T
|
rs191228562
|
0.00019
|
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu)
|
rs759908554
|
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_153676.4(USH1C):c.2539G>A (p.Asp847Asn)
|
rs138123405
|
0.00019
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000260.4(MYO7A):c.813C>T (p.Gly271=)
|
rs781810349
|
0.00018
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
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_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)
|
rs146082509
|
0.00018
|
NM_153676.4(USH1C):c.186T>C (p.Ile62=)
|
rs200239508
|
0.00018
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn)
|
rs144892841
|
0.00018
|
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=)
|
rs369787754
|
0.00017
|
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
|
rs375968860
|
0.00017
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
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.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.*117C>G
|
rs534567723
|
0.00017
|
NM_206933.4(USH2A):c.4627+161T>C
|
rs771693146
|
0.00017
|
NM_000260.4(MYO7A):c.1635T>C (p.His545=)
|
rs376286438
|
0.00016
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser)
|
rs189284385
|
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_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.2926A>G (p.Ser976Gly)
|
rs372401651
|
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.8729T>C (p.Met2910Thr)
|
rs374171450
|
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.11745T>C (p.Phe3915=)
|
rs201453118
|
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.*427T>C
|
rs1216254308
|
0.00016
|
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)
|
rs143803480
|
0.00016
|
NM_153676.4(USH1C):c.2280+6del
|
rs776356060
|
0.00016
|
NM_173477.5(USH1G):c.*1018G>A
|
rs780234900
|
0.00016
|
NM_174878.3(CLRN1):c.*856G>A
|
rs748935256
|
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.11734G>A (p.Glu3912Lys)
|
rs142617606
|
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.4627+851A>G
|
rs779885066
|
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.9604C>G (p.Pro3202Ala)
|
rs113786363
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
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_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)
|
rs368862510
|
0.00015
|
NM_015404.4(WHRN):c.-570C>G
|
rs886073834
|
0.00015
|
NM_015404.4(WHRN):c.-581C>T
|
rs886063377
|
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_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
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_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_001384140.1(PCDH15):c.1494A>G (p.Gln498=)
|
rs145141405
|
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_022124.6(CDH23):c.256G>A (p.Val86Met)
|
rs200085829
|
0.00014
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
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.5985C>T (p.Tyr1995=)
|
rs370762205
|
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.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_033056.4(PCDH15):c.5439A>C (p.Pro1813=)
|
rs150303579
|
0.00014
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
NM_153676.4(USH1C):c.684C>T (p.Ser228=)
|
rs149172005
|
0.00014
|
NM_153676.4(USH1C):c.790G>A (p.Val264Ile)
|
rs79875849
|
0.00014
|
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp)
|
rs555152976
|
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.1898C>T (p.Ser633Leu)
|
rs373190681
|
0.00014
|
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
|
rs200289497
|
0.00014
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser)
|
rs148136966
|
0.00014
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)
|
rs200304238
|
0.00013
|
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)
|
rs372050452
|
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_001384140.1(PCDH15):c.8G>A (p.Arg3Gln)
|
rs372085398
|
0.00013
|
NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)
|
rs138377835
|
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.5187G>A (p.Thr1729=)
|
rs376386945
|
0.00013
|
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met)
|
rs370794439
|
0.00013
|
NM_022124.6(CDH23):c.7994T>C (p.Ile2665Thr)
|
rs375019257
|
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_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu)
|
rs56332160
|
0.00013
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
NM_173477.5(USH1G):c.-8C>T
|
rs769903865
|
0.00013
|
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)
|
rs200197601
|
0.00013
|
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=)
|
rs148499621
|
0.00013
|
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654
|
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.6080A>C (p.Asn2027Thr)
|
rs144112891
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met)
|
rs370988961
|
0.00013
|
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=)
|
rs754599732
|
0.00012
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)
|
rs145037203
|
0.00012
|
NM_002109.6(HARS1):c.103G>A (p.Val35Met)
|
rs144588417
|
0.00012
|
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)
|
rs368841307
|
0.00012
|
NM_022124.6(CDH23):c.6081T>G (p.Ile2027Met)
|
rs114919561
|
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.7519A>G (p.Thr2507Ala)
|
rs368806892
|
0.00012
|
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln)
|
rs140424216
|
0.00012
|
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile)
|
rs140094683
|
0.00012
|
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)
|
rs77797012
|
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.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
NM_000260.4(MYO7A):c.1797+7C>T
|
rs782820757
|
0.00011
|
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu)
|
rs200057810
|
0.00011
|
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=)
|
rs782711428
|
0.00011
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
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.6552G>A (p.Thr2184=)
|
rs370866578
|
0.00011
|
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)
|
rs372344870
|
0.00011
|
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)
|
rs199738915
|
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_002109.6(HARS1):c.952-3C>A
|
rs373032755
|
0.00011
|
NM_022124.6(CDH23):c.*80G>A
|
rs75715348
|
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.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
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.7552G>A (p.Val2518Met)
|
rs376617494
|
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.12704A>G (p.Tyr4235Cys)
|
rs200644004
|
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.18710C>T (p.Thr6237Met)
|
rs376428763
|
0.00011
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929
|
0.00011
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
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.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
NM_153676.4(USH1C):c.*110C>G
|
rs75815445
|
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.12392C>T (p.Thr4131Ile)
|
rs149647002
|
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.3443C>T (p.Pro1148Leu)
|
rs141339026
|
0.00011
|
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys)
|
rs148049006
|
0.00011
|
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu)
|
rs145399306
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
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.2680G>A (p.Glu894Lys)
|
rs372366760
|
0.00010
|
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser)
|
rs370104824
|
0.00010
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
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_001384140.1(PCDH15):c.19C>A (p.Leu7Ile)
|
rs762092314
|
0.00010
|
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys)
|
rs372076259
|
0.00010
|
NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=)
|
rs140893140
|
0.00010
|
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val)
|
rs369029215
|
0.00010
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414
|
0.00010
|
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr)
|
rs202161016
|
0.00010
|
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
|
rs143763650
|
0.00010
|
NM_015404.4(WHRN):c.2571G>T (p.Gln857His)
|
rs776712642
|
0.00010
|
NM_022124.6(CDH23):c.*85G>A
|
rs886047144
|
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.2869C>T (p.Arg957Cys)
|
rs532018311
|
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.3764A>T (p.Lys1255Met)
|
rs372158876
|
0.00010
|
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys)
|
rs200664666
|
0.00010
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn)
|
rs371286324
|
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.155G>A (p.Arg52His)
|
rs199798095
|
0.00010
|
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys)
|
rs375450242
|
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.8295G>T (p.Leu2765Phe)
|
rs141681122
|
0.00010
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
NM_153676.4(USH1C):c.1414-2_1414-1insCTG
|
rs769675063
|
0.00010
|
NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser)
|
rs368175674
|
0.00010
|
NM_206933.4(USH2A):c.10585+4T>G
|
rs372667667
|
0.00010
|
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)
|
rs371987720
|
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.15306C>T (p.Ala5102=)
|
rs149506333
|
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.7379G>A (p.Arg2460His)
|
rs368681648
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr)
|
rs760777446
|
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.2806C>T (p.Pro936Ser)
|
rs559446180
|
0.00009
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
NM_000260.4(MYO7A):c.3954C>T (p.His1318=)
|
rs749218462
|
0.00009
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00009
|
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)
|
rs373080197
|
0.00009
|
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=)
|
rs758921557
|
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.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.2823G>T (p.Lys941Asn)
|
rs773599066
|
0.00009
|
NM_001384140.1(PCDH15):c.2891G>A (p.Arg964Lys)
|
rs149605588
|
0.00009
|
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)
|
rs387906639
|
0.00009
|
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala)
|
rs781583583
|
0.00009
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
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.2939C>T (p.Thr980Met)
|
rs535416598
|
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.4863C>T (p.Tyr1621=)
|
rs374797859
|
0.00009
|
NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu)
|
rs376453794
|
0.00009
|
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met)
|
rs772949926
|
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.8534G>A (p.Arg2845His)
|
rs199668532
|
0.00009
|
NM_022124.6(CDH23):c.8979+4C>T
|
rs775540400
|
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.16874C>T (p.Ser5625Leu)
|
rs373862154
|
0.00009
|
NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu)
|
rs749622020
|
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.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
NM_174878.3(CLRN1):c.*90A>G
|
rs780643561
|
0.00009
|
NM_174878.3(CLRN1):c.*9C>G
|
rs201624666
|
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.1297C>T (p.Pro433Ser)
|
rs139556361
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu)
|
rs140955723
|
0.00009
|
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
|
rs367693972
|
0.00009
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
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.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr)
|
rs142234324
|
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.2387G>A (p.Arg796Gln)
|
rs111033224
|
0.00008
|
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys)
|
rs376169396
|
0.00008
|
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys)
|
rs782276809
|
0.00008
|
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)
|
rs758332732
|
0.00008
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00008
|
NM_000260.4(MYO7A):c.3924+8C>T
|
rs565801140
|
0.00008
|
NM_000260.4(MYO7A):c.4387C>T (p.Arg1463Cys)
|
rs202111392
|
0.00008
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331
|
0.00008
|
NM_000260.4(MYO7A):c.519G>A (p.Gln173=)
|
rs369757929
|
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.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
NM_022124.6(CDH23):c.2059+6G>A
|
rs727502923
|
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.5146C>A (p.Gln1716Lys)
|
rs369740230
|
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.7657G>A (p.Val2553Met)
|
rs370325211
|
0.00008
|
NM_022124.6(CDH23):c.856C>T (p.Leu286=)
|
rs727502918
|
0.00008
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
NM_032119.4(ADGRV1):c.*193G>A
|
rs369242510
|
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.5657C>G (p.Thr1886Arg)
|
rs199959482
|
0.00008
|
NM_032119.4(ADGRV1):c.9448-14G>A
|
rs370196445
|
0.00008
|
NM_153676.4(USH1C):c.105-4A>G
|
rs201374986
|
0.00008
|
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp)
|
rs202174251
|
0.00008
|
NM_173477.5(USH1G):c.*202G>A
|
rs557845589
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.11859T>C (p.Ser3953=)
|
rs141941454
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser)
|
rs796610671
|
0.00008
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)
|
rs200761611
|
0.00008
|
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)
|
rs537863698
|
0.00008
|
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val)
|
rs868179223
|
0.00008
|
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)
|
rs371201450
|
0.00008
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
|
rs748137104
|
0.00008
|
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp)
|
rs750218932
|
0.00008
|
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.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.5480+10G>A
|
rs768513428
|
0.00007
|
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=)
|
rs778051833
|
0.00007
|
NM_000260.4(MYO7A):c.78G>A (p.Ala26=)
|
rs373517098
|
0.00007
|
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met)
|
rs367937228
|
0.00007
|
NM_001384140.1(PCDH15):c.1979T>A (p.Val660Asp)
|
rs573831072
|
0.00007
|
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
|
rs769535360
|
0.00007
|
NM_015404.4(WHRN):c.-505C>T
|
rs987306942
|
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_022124.6(CDH23):c.1068C>T (p.Ala356=)
|
rs141247813
|
0.00007
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys)
|
rs772284876
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His)
|
rs727502927
|
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.5397G>A (p.Gly1799=)
|
rs749913488
|
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.6446G>A (p.Arg2149Gln)
|
rs377376107
|
0.00007
|
NM_022124.6(CDH23):c.6830-7A>C
|
rs200587627
|
0.00007
|
NM_022124.6(CDH23):c.8421C>T (p.Ser2807=)
|
rs755841293
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=)
|
rs182626712
|
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.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)
|
rs566196345
|
0.00007
|
NM_032119.4(ADGRV1):c.6951+13G>A
|
rs143356203
|
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.2371G>A (p.Glu791Lys)
|
rs772123405
|
0.00007
|
NM_153676.4(USH1C):c.239G>A (p.Arg80Gln)
|
rs148597739
|
0.00007
|
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp)
|
rs368903400
|
0.00007
|
NM_174878.3(CLRN1):c.*1039A>T
|
rs200446881
|
0.00007
|
NM_174878.3(CLRN1):c.*1181T>C
|
rs775798558
|
0.00007
|
NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala)
|
rs764632225
|
0.00007
|
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg)
|
rs768097637
|
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.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
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.1003+10C>T
|
rs782382971
|
0.00006
|
NM_000260.4(MYO7A):c.1049C>T (p.Pro350Leu)
|
rs376108484
|
0.00006
|
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=)
|
rs370305347
|
0.00006
|
NM_000260.4(MYO7A):c.3844G>C (p.Glu1282Gln)
|
rs887299357
|
0.00006
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys)
|
rs370232066
|
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.5681C>T (p.Ala1894Val)
|
rs201314332
|
0.00006
|
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys)
|
rs780609120
|
0.00006
|
NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp)
|
rs369460086
|
0.00006
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
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_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
|
rs750302536
|
0.00006
|
NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln)
|
rs753457449
|
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.2396G>A (p.Arg799His)
|
rs199824864
|
0.00006
|
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454
|
0.00006
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
NM_001384140.1(PCDH15):c.3501+6C>T
|
rs370178425
|
0.00006
|
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met)
|
rs773283153
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu)
|
rs374714898
|
0.00006
|
NM_001384140.1(PCDH15):c.4368-1070T>A
|
rs886047054
|
0.00006
|
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg)
|
rs201496062
|
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_002109.6(HARS1):c.203G>A (p.Arg68Gln)
|
rs753788498
|
0.00006
|
NM_002109.6(HARS1):c.52G>A (p.Val18Met)
|
rs774632798
|
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_015404.4(WHRN):c.695A>C (p.His232Pro)
|
rs533374297
|
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.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.2909C>T (p.Ala970Val)
|
rs202203105
|
0.00006
|
NM_022124.6(CDH23):c.3021C>T (p.Asp1007=)
|
rs771887370
|
0.00006
|
NM_022124.6(CDH23):c.324C>T (p.Ser108=)
|
rs373668614
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met)
|
rs201884261
|
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.4582G>A (p.Glu1528Lys)
|
rs201533282
|
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.4700T>C (p.Ile1567Thr)
|
rs756184489
|
0.00006
|
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=)
|
rs757049933
|
0.00006
|
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His)
|
rs111033491
|
0.00006
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
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.7568C>T (p.Pro2523Leu)
|
rs369761606
|
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.8426G>A (p.Arg2809His)
|
rs780409612
|
0.00006
|
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys)
|
rs727505254
|
0.00006
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00006
|
NM_022124.6(CDH23):c.8784C>T (p.Phe2928=)
|
rs755305739
|
0.00006
|
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys)
|
rs746716712
|
0.00006
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
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.9941C>T (p.Thr3314Met)
|
rs559427378
|
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.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00006
|
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
|
rs746621216
|
0.00006
|
NM_032119.4(ADGRV1):c.17204+4A>G
|
rs376691612
|
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_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)
|
rs374348614
|
0.00006
|
NM_033056.4(PCDH15):c.4553A>T (p.Asp1518Val)
|
rs528484622
|
0.00006
|
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)
|
rs767811568
|
0.00006
|
NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys)
|
rs775361471
|
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.1070G>A (p.Arg357Gln)
|
rs895318911
|
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.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)
|
rs377510653
|
0.00006
|
NM_153676.4(USH1C):c.66G>A (p.Glu22=)
|
rs768165881
|
0.00006
|
NM_153676.4(USH1C):c.759+10G>T
|
rs368528034
|
0.00006
|
NM_153676.4(USH1C):c.822T>A (p.Ala274=)
|
rs769539248
|
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.*1331C>T
|
rs763746069
|
0.00006
|
NM_174878.3(CLRN1):c.*249G>A
|
rs528690106
|
0.00006
|
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp)
|
rs150617613
|
0.00006
|
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)
|
rs146014881
|
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.11230A>G (p.Arg3744Gly)
|
rs1426369789
|
0.00006
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
0.00006
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
|
rs753823008
|
0.00006
|
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr)
|
rs145719886
|
0.00006
|
NM_206933.4(USH2A):c.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.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00006
|
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)
|
rs375429745
|
0.00006
|
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)
|
rs767137840
|
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.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.4627+510G>A
|
rs941646674
|
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.60G>T (p.Leu20Phe)
|
rs767611127
|
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.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00006
|
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)
|
rs199885325
|
0.00006
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
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.268C>T (p.Arg90Trp)
|
rs781834630
|
0.00005
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213
|
0.00005
|
NM_000260.4(MYO7A):c.341A>G (p.Tyr114Cys)
|
rs782587841
|
0.00005
|
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)
|
rs756324342
|
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.5065G>A (p.Asp1689Asn)
|
rs544639673
|
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.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.562C>A (p.Arg188Ser)
|
rs368583838
|
0.00005
|
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)
|
rs368026275
|
0.00005
|
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=)
|
rs200170358
|
0.00005
|
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile)
|
rs200784596
|
0.00005
|
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu)
|
rs397517455
|
0.00005
|
NM_001384140.1(PCDH15):c.3206A>G (p.Tyr1069Cys)
|
rs775952226
|
0.00005
|
NM_001384140.1(PCDH15):c.3592G>A (p.Glu1198Lys)
|
rs781603185
|
0.00005
|
NM_001384140.1(PCDH15):c.4671+1523G>T
|
rs755005336
|
0.00005
|
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)
|
rs562377533
|
0.00005
|
NM_015404.4(WHRN):c.*583C>T
|
rs567156879
|
0.00005
|
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val)
|
rs141168514
|
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.2536G>A (p.Asp846Asn)
|
rs372807578
|
0.00005
|
NM_022124.6(CDH23):c.2875G>A (p.Ala959Thr)
|
rs200196800
|
0.00005
|
NM_022124.6(CDH23):c.3106+11G>A
|
rs759689776
|
0.00005
|
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met)
|
rs756165682
|
0.00005
|
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
|
rs753822806
|
0.00005
|
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu)
|
rs371145622
|
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.5248G>A (p.Gly1750Arg)
|
rs372822465
|
0.00005
|
NM_022124.6(CDH23):c.5796G>A (p.Pro1932=)
|
rs370965108
|
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.9170G>A (p.Arg3057Gln)
|
rs372141384
|
0.00005
|
NM_022124.6(CDH23):c.968G>A (p.Arg323His)
|
rs181449189
|
0.00005
|
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)
|
rs532839486
|
0.00005
|
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val)
|
rs765672841
|
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.170G>A (p.Arg57Lys)
|
rs956307189
|
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_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp)
|
rs745335831
|
0.00005
|
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)
|
rs745583797
|
0.00005
|
NM_033056.4(PCDH15):c.5408C>T (p.Ser1803Phe)
|
rs747584616
|
0.00005
|
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
|
rs140047846
|
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.592A>T (p.Ser198Cys)
|
rs141771249
|
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.11443A>G (p.Ser3815Gly)
|
rs149527139
|
0.00005
|
NM_206933.4(USH2A):c.11821C>T (p.Arg3941Trp)
|
rs749942414
|
0.00005
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
NM_206933.4(USH2A):c.15249G>C (p.Gln5083His)
|
rs768977235
|
0.00005
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
0.00005
|
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)
|
rs145383772
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
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.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.8710G>A (p.Val2904Ile)
|
rs142649882
|
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.1232T>C (p.Val411Ala)
|
rs369916141
|
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.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.2507G>A (p.Arg836His)
|
rs782179888
|
0.00004
|
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His)
|
rs199607235
|
0.00004
|
NM_000260.4(MYO7A):c.2762G>A (p.Arg921Gln)
|
rs782498923
|
0.00004
|
NM_000260.4(MYO7A):c.3277G>A (p.Glu1093Lys)
|
rs782403609
|
0.00004
|
NM_000260.4(MYO7A):c.3375+12C>T
|
rs781935881
|
0.00004
|
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp)
|
rs886048671
|
0.00004
|
NM_000260.4(MYO7A):c.3750+8C>T
|
rs930330204
|
0.00004
|
NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=)
|
rs750763506
|
0.00004
|
NM_000260.4(MYO7A):c.3865G>A (p.Asp1289Asn)
|
rs371221562
|
0.00004
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
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.4768A>G (p.Ile1590Val)
|
rs761363022
|
0.00004
|
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)
|
rs201321140
|
0.00004
|
NM_000260.4(MYO7A):c.495G>A (p.Thr165=)
|
rs532833627
|
0.00004
|
NM_000260.4(MYO7A):c.5080G>A (p.Val1694Ile)
|
rs113966094
|
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.5300C>T (p.Ser1767Leu)
|
rs757896867
|
0.00004
|
NM_000260.4(MYO7A):c.5388C>T (p.Thr1796=)
|
rs372062718
|
0.00004
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
NM_000260.4(MYO7A):c.54G>C (p.Gln18His)
|
rs371849195
|
0.00004
|
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=)
|
rs375627342
|
0.00004
|
NM_000260.4(MYO7A):c.5667G>A (p.Leu1889=)
|
rs747516555
|
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.6346G>A (p.Glu2116Lys)
|
rs781592754
|
0.00004
|
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)
|
rs374575441
|
0.00004
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
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.2936T>C (p.Phe979Ser)
|
rs150891423
|
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.3667A>T (p.Ile1223Phe)
|
rs752490775
|
0.00004
|
NM_001384140.1(PCDH15):c.4048C>T (p.Arg1350Cys)
|
rs138398244
|
0.00004
|
NM_001384140.1(PCDH15):c.4272A>G (p.Pro1424=)
|
rs759109238
|
0.00004
|
NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg)
|
rs550282961
|
0.00004
|
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)
|
rs369442293
|
0.00004
|
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu)
|
rs138299477
|
0.00004
|
NM_001384140.1(PCDH15):c.952G>C (p.Asp318His)
|
rs747921916
|
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.1133C>T (p.Pro378Leu)
|
rs377410852
|
0.00004
|
NM_002109.6(HARS1):c.494G>A (p.Arg165His)
|
rs373522589
|
0.00004
|
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)
|
rs186526524
|
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_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.958C>T (p.Leu320Phe)
|
rs780855079
|
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.160C>G (p.Gln54Glu)
|
rs765455172
|
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.2251G>A (p.Gly751Arg)
|
rs41281306
|
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.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00004
|
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val)
|
rs779133533
|
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.4267G>A (p.Asp1423Asn)
|
rs779009042
|
0.00004
|
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)
|
rs369559033
|
0.00004
|
NM_022124.6(CDH23):c.4431C>T (p.Gly1477=)
|
rs763102268
|
0.00004
|
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys)
|
rs555430482
|
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.5519G>A (p.Arg1840Gln)
|
rs375083901
|
0.00004
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His)
|
rs558551826
|
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.6138C>T (p.Ile2046=)
|
rs568741210
|
0.00004
|
NM_022124.6(CDH23):c.6139G>A (p.Gly2047Arg)
|
rs750815841
|
0.00004
|
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile)
|
rs749123528
|
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.8899C>T (p.Arg2967Cys)
|
rs373602652
|
0.00004
|
NM_022124.6(CDH23):c.8931C>T (p.His2977=)
|
rs781099726
|
0.00004
|
NM_022124.6(CDH23):c.9115C>T (p.Arg3039Trp)
|
rs1026597345
|
0.00004
|
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln)
|
rs776346516
|
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_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00004
|
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp)
|
rs1434063011
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_032119.4(ADGRV1):c.*17C>T
|
rs767529084
|
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.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.4851T>C (p.Thr1617=)
|
rs368303691
|
0.00004
|
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)
|
rs200974394
|
0.00004
|
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=)
|
rs760814922
|
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.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.5614A>G (p.Lys1872Glu)
|
rs147727092
|
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.2377C>T (p.His793Tyr)
|
rs372227474
|
0.00004
|
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys)
|
rs876658111
|
0.00004
|
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro)
|
rs142730611
|
0.00004
|
NM_153676.4(USH1C):c.540C>T (p.Leu180=)
|
rs145510974
|
0.00004
|
NM_153676.4(USH1C):c.579+8C>T
|
rs368634906
|
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_173477.5(USH1G):c.*1922A>G
|
rs868650355
|
0.00004
|
NM_174878.3(CLRN1):c.*1032T>C
|
rs564545961
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe)
|
rs201625237
|
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.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00004
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser)
|
rs776876392
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.126C>T (p.Asn42=)
|
rs774473277
|
0.00004
|
NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala)
|
rs755416914
|
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.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys)
|
rs754834155
|
0.00004
|
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu)
|
rs758660532
|
0.00004
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
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.1704C>T (p.Tyr568=)
|
rs766038321
|
0.00004
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
NM_206933.4(USH2A):c.2167+15A>G
|
rs779599960
|
0.00004
|
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr)
|
rs375656256
|
0.00004
|
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)
|
rs752748453
|
0.00004
|
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)
|
rs146916397
|
0.00004
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00004
|
NM_206933.4(USH2A):c.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.5410A>G (p.Ile1804Val)
|
rs201804063
|
0.00004
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
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.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.8146G>A (p.Glu2716Lys)
|
rs531822235
|
0.00004
|
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg)
|
rs753212183
|
0.00004
|
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly)
|
rs373107700
|
0.00004
|
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)
|
rs769479181
|
0.00004
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
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.*101G>A
|
rs886048683
|
0.00003
|
NM_000260.4(MYO7A):c.-160G>A
|
rs576789908
|
0.00003
|
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.1368C>T (p.Phe456=)
|
rs559209306
|
0.00003
|
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys)
|
rs782364394
|
0.00003
|
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp)
|
rs886048676
|
0.00003
|
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu)
|
rs886048670
|
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.2427G>T (p.Gln809His)
|
rs782650544
|
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.2836A>C (p.Met946Leu)
|
rs1357072694
|
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.3014C>T (p.Ala1005Val)
|
rs113326082
|
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.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg)
|
rs780594308
|
0.00003
|
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly)
|
rs781670345
|
0.00003
|
NM_000260.4(MYO7A):c.3829G>A (p.Ala1277Thr)
|
rs1956002675
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
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.440G>A (p.Arg147His)
|
rs111033512
|
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.4910A>G (p.His1637Arg)
|
rs372054499
|
0.00003
|
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)
|
rs767975012
|
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.5368C>T (p.Arg1790Cys)
|
rs777954362
|
0.00003
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
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.6092G>A (p.Arg2031Gln)
|
rs762258869
|
0.00003
|
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)
|
rs765083332
|
0.00003
|
NM_000260.4(MYO7A):c.658C>T (p.His220Tyr)
|
rs781857167
|
0.00003
|
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu)
|
rs761666704
|
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.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp)
|
rs150387187
|
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.470A>G (p.Asn157Ser)
|
rs727503368
|
0.00003
|
NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs)
|
rs760669176
|
0.00003
|
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys)
|
rs565693539
|
0.00003
|
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg)
|
rs727503367
|
0.00003
|
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met)
|
rs370933593
|
0.00003
|
NM_001384140.1(PCDH15):c.986-11A>G
|
rs374641355
|
0.00003
|
NM_002109.6(HARS1):c.1105A>G (p.Met369Val)
|
rs749991162
|
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.1462G>A (p.Asp488Asn)
|
rs771603866
|
0.00003
|
NM_002109.6(HARS1):c.218G>A (p.Arg73His)
|
rs767325912
|
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.695G>A (p.Arg232His)
|
rs550778711
|
0.00003
|
NM_002109.6(HARS1):c.797G>A (p.Arg266His)
|
rs765223763
|
0.00003
|
NM_002109.6(HARS1):c.941T>C (p.Ile314Thr)
|
rs777214329
|
0.00003
|
NM_002109.6(HARS1):c.951+5G>T
|
rs1473283139
|
0.00003
|
NM_015404.4(WHRN):c.*149A>G
|
rs563858014
|
0.00003
|
NM_015404.4(WHRN):c.-23C>G
|
rs770413185
|
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.35C>T (p.Ser12Leu)
|
rs760261757
|
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.1685A>G (p.Gln562Arg)
|
rs397517311
|
0.00003
|
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr)
|
rs756958499
|
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.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.259G>T (p.Val87Leu)
|
rs759917997
|
0.00003
|
NM_022124.6(CDH23):c.2789C>T (p.Pro930Leu)
|
rs763602387
|
0.00003
|
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met)
|
rs762772276
|
0.00003
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn)
|
rs199793172
|
0.00003
|
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly)
|
rs757508152
|
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.3678G>A (p.Thr1226=)
|
rs774716336
|
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.4206+5G>A
|
rs768842900
|
0.00003
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
NM_022124.6(CDH23):c.429+4G>A
|
rs397517328
|
0.00003
|
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro)
|
rs886047138
|
0.00003
|
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=)
|
rs371522191
|
0.00003
|
NM_022124.6(CDH23):c.550C>T (p.Arg184Cys)
|
rs779468414
|
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.5689C>T (p.Arg1897Trp)
|
rs750798211
|
0.00003
|
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met)
|
rs372981760
|
0.00003
|
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr)
|
rs528880720
|
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.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
NM_022124.6(CDH23):c.7769C>G (p.Pro2590Arg)
|
rs368781470
|
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.8257G>A (p.Ala2753Thr)
|
rs397517356
|
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.8497C>T (p.Arg2833Cys)
|
rs760130862
|
0.00003
|
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)
|
rs766541944
|
0.00003
|
NM_022124.6(CDH23):c.8785G>A (p.Val2929Met)
|
rs781604742
|
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.9070G>A (p.Val3024Met)
|
rs370087572
|
0.00003
|
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=)
|
rs727504725
|
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.9806G>A (p.Arg3269His)
|
rs747409066
|
0.00003
|
NM_032119.4(ADGRV1):c.*124C>T
|
rs547829526
|
0.00003
|
NM_032119.4(ADGRV1):c.*270C>A
|
rs1415320521
|
0.00003
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385
|
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.16377G>T (p.Gln5459His)
|
rs371947306
|
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.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.3928A>C (p.Thr1310Pro)
|
rs771051473
|
0.00003
|
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val)
|
rs187139957
|
0.00003
|
NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser)
|
rs775440063
|
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.5665G>A (p.Val1889Ile)
|
rs760468429
|
0.00003
|
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile)
|
rs759954556
|
0.00003
|
NM_032119.4(ADGRV1):c.8386+12T>C
|
rs780022610
|
0.00003
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
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.163C>T (p.Arg55Cys)
|
rs117171411
|
0.00003
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247
|
0.00003
|
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)
|
rs200428926
|
0.00003
|
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)
|
rs397517878
|
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.908G>A (p.Arg303Gln)
|
rs397517884
|
0.00003
|
NM_173477.5(USH1G):c.*1191G>A
|
rs3859210
|
0.00003
|
NM_173477.5(USH1G):c.*831C>T
|
rs977400332
|
0.00003
|
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)
|
rs775952116
|
0.00003
|
NM_174878.3(CLRN1):c.*1165C>G
|
rs769315815
|
0.00003
|
NM_174878.3(CLRN1):c.*307G>T
|
rs886058091
|
0.00003
|
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)
|
rs397517930
|
0.00003
|
NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser)
|
rs764099313
|
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.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala)
|
rs760024584
|
0.00003
|
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
|
rs564240175
|
0.00003
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00003
|
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys)
|
rs794727826
|
0.00003
|
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)
|
rs141696914
|
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.14350G>A (p.Glu4784Lys)
|
rs746837034
|
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.1652G>A (p.Arg551His)
|
rs746477843
|
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.4016T>G (p.Val1339Gly)
|
rs781668118
|
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.5051C>T (p.Pro1684Leu)
|
rs771088957
|
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.7027C>T (p.Arg2343Trp)
|
rs149606872
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg)
|
rs1048653046
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
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.9583G>A (p.Gly3195Arg)
|
rs149027999
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)
|
rs769233119
|
0.00003
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
NM_000260.4(MYO7A):c.1343+7C>T
|
rs782595035
|
0.00002
|
NM_000260.4(MYO7A):c.1816C>T (p.Arg606Cys)
|
rs567139897
|
0.00002
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
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.2553C>G (p.Ile851Met)
|
rs986413500
|
0.00002
|
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln)
|
rs1052032
|
0.00002
|
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=)
|
rs782279442
|
0.00002
|
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val)
|
rs782465732
|
0.00002
|
NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=)
|
rs782816445
|
0.00002
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=)
|
rs782742557
|
0.00002
|
NM_000260.4(MYO7A):c.3784G>A (p.Val1262Met)
|
rs370036829
|
0.00002
|
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
|
rs369458838
|
0.00002
|
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met)
|
rs766245260
|
0.00002
|
NM_000260.4(MYO7A):c.3956T>C (p.Val1319Ala)
|
rs773962194
|
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.4852G>A (p.Ala1618Thr)
|
rs772542296
|
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.5346C>T (p.Gly1782=)
|
rs373822765
|
0.00002
|
NM_000260.4(MYO7A):c.5369G>A (p.Arg1790His)
|
rs372016012
|
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.5857-3C>A
|
rs727505114
|
0.00002
|
NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val)
|
rs1387553850
|
0.00002
|
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)
|
rs185061452
|
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.6626G>A (p.Arg2209Gln)
|
rs776881443
|
0.00002
|
NM_001195794.1(CLRN1):c.-274A>C
|
rs886058092
|
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.1306A>G (p.Thr436Ala)
|
rs747795209
|
0.00002
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=)
|
rs754253198
|
0.00002
|
NM_001384140.1(PCDH15):c.2564G>A (p.Arg855Gln)
|
rs763530050
|
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.2981T>A (p.Leu994His)
|
rs548728030
|
0.00002
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
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.4671+1559C>T
|
rs368397508
|
0.00002
|
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)
|
rs755487351
|
0.00002
|
NM_001384140.1(PCDH15):c.602A>G (p.Asn201Ser)
|
rs374283912
|
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.841A>G (p.Thr281Ala)
|
rs773843633
|
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.1220C>T (p.Thr407Met)
|
rs760726168
|
0.00002
|
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)
|
rs201011416
|
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.1468C>T (p.Arg490Ter)
|
rs373709175
|
0.00002
|
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys)
|
rs774017621
|
0.00002
|
NM_002109.6(HARS1):c.383G>A (p.Arg128His)
|
rs748062451
|
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.637G>A (p.Asp213Asn)
|
rs759634200
|
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.2234G>A (p.Arg745His)
|
rs555619169
|
0.00002
|
NM_015404.4(WHRN):c.324A>G (p.Gln108=)
|
rs763014940
|
0.00002
|
NM_015404.4(WHRN):c.549G>A (p.Arg183=)
|
rs147477922
|
0.00002
|
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe)
|
rs376537401
|
0.00002
|
NM_022124.6(CDH23):c.10022G>A (p.Arg3341His)
|
rs765298747
|
0.00002
|
NM_022124.6(CDH23):c.1062C>T (p.Ser354=)
|
rs775091135
|
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.2038G>A (p.Val680Met)
|
rs760334573
|
0.00002
|
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=)
|
rs565266663
|
0.00002
|
NM_022124.6(CDH23):c.2290-3C>T
|
rs182365129
|
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.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.4054G>A (p.Ala1352Thr)
|
rs773262846
|
0.00002
|
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=)
|
rs201008425
|
0.00002
|
NM_022124.6(CDH23):c.4250G>A (p.Arg1417Gln)
|
rs369353175
|
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.4739G>A (p.Arg1580His)
|
rs747067009
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00002
|
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His)
|
rs189361642
|
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.5443G>A (p.Ala1815Thr)
|
rs199581934
|
0.00002
|
NM_022124.6(CDH23):c.5611G>A (p.Ala1871Thr)
|
rs766404226
|
0.00002
|
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr)
|
rs757570269
|
0.00002
|
NM_022124.6(CDH23):c.5810T>C (p.Ile1937Thr)
|
rs746883593
|
0.00002
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00002
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00002
|
NM_022124.6(CDH23):c.6086G>A (p.Arg2029Gln)
|
rs542400234
|
0.00002
|
NM_022124.6(CDH23):c.6194A>G (p.Asn2065Ser)
|
rs765490119
|
0.00002
|
NM_022124.6(CDH23):c.6517G>A (p.Glu2173Lys)
|
rs770659035
|
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.7936G>C (p.Gly2646Arg)
|
rs747025744
|
0.00002
|
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)
|
rs1235821368
|
0.00002
|
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=)
|
rs767480784
|
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.8463C>T (p.Leu2821=)
|
rs1235419354
|
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.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.9933G>A (p.Ser3311=)
|
rs367684899
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=)
|
rs1325751815
|
0.00002
|
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys)
|
rs778286042
|
0.00002
|
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala)
|
rs566526160
|
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.1367T>C (p.Leu456Pro)
|
rs774659694
|
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.17518T>C (p.Tyr5840His)
|
rs757218098
|
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.18711G>A (p.Thr6237=)
|
rs749201239
|
0.00002
|
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile)
|
rs752969941
|
0.00002
|
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)
|
rs376900429
|
0.00002
|
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=)
|
rs1175349754
|
0.00002
|
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly)
|
rs746118976
|
0.00002
|
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val)
|
rs371849392
|
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.7264C>T (p.Leu2422Phe)
|
rs748779747
|
0.00002
|
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu)
|
rs375272281
|
0.00002
|
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=)
|
rs375310575
|
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.5178C>T (p.Thr1726=)
|
rs760796538
|
0.00002
|
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe)
|
rs752231055
|
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_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.1292G>T (p.Gly431Val)
|
rs751388655
|
0.00002
|
NM_153676.4(USH1C):c.204G>T (p.Leu68=)
|
rs140945339
|
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.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.*1052C>T
|
rs536064705
|
0.00002
|
NM_173477.5(USH1G):c.*1732C>T
|
rs886053383
|
0.00002
|
NM_173477.5(USH1G):c.*567C>G
|
rs528602466
|
0.00002
|
NM_173477.5(USH1G):c.1152C>T (p.Asp384=)
|
rs569032124
|
0.00002
|
NM_173477.5(USH1G):c.859A>G (p.Thr287Ala)
|
rs199782834
|
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.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly)
|
rs1198689866
|
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.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.10969A>G (p.Thr3657Ala)
|
rs747966256
|
0.00002
|
NM_206933.4(USH2A):c.11007C>T (p.Ser3669=)
|
rs752000364
|
0.00002
|
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=)
|
rs143453173
|
0.00002
|
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro)
|
rs201961789
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
|
rs754979740
|
0.00002
|
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)
|
rs376528829
|
0.00002
|
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys)
|
rs772357461
|
0.00002
|
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His)
|
rs747947192
|
0.00002
|
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr)
|
rs145531316
|
0.00002
|
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
|
rs140010020
|
0.00002
|
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile)
|
rs533179037
|
0.00002
|
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)
|
rs373152283
|
0.00002
|
NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn)
|
rs148605973
|
0.00002
|
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn)
|
rs1394766722
|
0.00002
|
NM_206933.4(USH2A):c.1510C>A (p.His504Asn)
|
rs533024548
|
0.00002
|
NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu)
|
rs773541511
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu)
|
rs774644535
|
0.00002
|
NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del)
|
rs766970587
|
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.2330G>A (p.Cys777Tyr)
|
rs192119790
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala)
|
rs192918169
|
0.00002
|
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580
|
0.00002
|
NM_206933.4(USH2A):c.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.3980C>T (p.Thr1327Ile)
|
rs774663133
|
0.00002
|
NM_206933.4(USH2A):c.4627+850C>T
|
rs906951959
|
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.565C>T (p.Arg189Cys)
|
rs370653547
|
0.00002
|
NM_206933.4(USH2A):c.6050-3T>C
|
rs368789291
|
0.00002
|
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr)
|
rs749333215
|
0.00002
|
NM_206933.4(USH2A):c.6197C>T (p.Ser2066Phe)
|
rs2030530878
|
0.00002
|
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe)
|
rs756234447
|
0.00002
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)
|
rs768253909
|
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.7517A>G (p.Tyr2506Cys)
|
rs937606032
|
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.7906A>G (p.Thr2636Ala)
|
rs752549947
|
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.8222A>G (p.Gln2741Arg)
|
rs374456269
|
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.8645G>C (p.Gly2882Ala)
|
rs527467361
|
0.00002
|
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
|
rs760779633
|
0.00002
|
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
|
rs1467856164
|
0.00002
|
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)
|
rs759365458
|
0.00002
|
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)
|
rs876658116
|
0.00002
|
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp)
|
rs749482634
|
0.00002
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
0.00002
|
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp)
|
rs762076576
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His)
|
rs140746096
|
0.00002
|
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.1058C>T (p.Ala353Val)
|
rs557302067
|
0.00001
|
NM_000260.4(MYO7A):c.1059C>T (p.Ala353=)
|
rs573947142
|
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.1195G>A (p.Val399Ile)
|
rs1162724549
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.1530C>T (p.Ile510=)
|
rs746423219
|
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.1690+3A>G
|
rs1555070313
|
0.00001
|
NM_000260.4(MYO7A):c.1710A>G (p.Arg570=)
|
rs782763913
|
0.00001
|
NM_000260.4(MYO7A):c.1796T>C (p.Met599Thr)
|
rs1007494594
|
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.1945C>T (p.Arg649Trp)
|
rs782503314
|
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.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.2095-4C>G
|
rs763060756
|
0.00001
|
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg)
|
rs572300575
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.2225A>T (p.Lys742Ile)
|
rs782417254
|
0.00001
|
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)
|
rs782174733
|
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.239G>A (p.Gly80Asp)
|
rs376796087
|
0.00001
|
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)
|
rs1241891051
|
0.00001
|
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln)
|
rs561347333
|
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.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00001
|
NM_000260.4(MYO7A):c.2480A>G (p.Tyr827Cys)
|
rs782474674
|
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.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.2641C>T (p.Arg881Trp)
|
rs781860354
|
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.2819C>T (p.Ser940Leu)
|
rs1955180601
|
0.00001
|
NM_000260.4(MYO7A):c.293C>T (p.Thr98Met)
|
rs1434564086
|
0.00001
|
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)
|
rs878853237
|
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.3276C>T (p.Gly1092=)
|
rs782130985
|
0.00001
|
NM_000260.4(MYO7A):c.3285+3G>A
|
rs1186153232
|
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.3472A>G (p.Ile1158Val)
|
rs797044517
|
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.359G>A (p.Arg120His)
|
rs369493667
|
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.3664G>A (p.Gly1222Ser)
|
rs755771068
|
0.00001
|
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=)
|
rs77299211
|
0.00001
|
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)
|
rs767426033
|
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.3943G>A (p.Gly1315Ser)
|
rs769771981
|
0.00001
|
NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr)
|
rs1455741859
|
0.00001
|
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr)
|
rs375066152
|
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.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.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.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000260.4(MYO7A):c.4512G>A (p.Gln1504=)
|
rs767236447
|
0.00001
|
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val)
|
rs756854177
|
0.00001
|
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)
|
rs747155741
|
0.00001
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485
|
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.5102G>A (p.Arg1701Gln)
|
rs544043266
|
0.00001
|
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys)
|
rs529974676
|
0.00001
|
NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met)
|
rs751716334
|
0.00001
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
0.00001
|
NM_000260.4(MYO7A):c.5179A>C (p.Lys1727Gln)
|
rs1187644045
|
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.5265G>A (p.Ala1755=)
|
rs773557376
|
0.00001
|
NM_000260.4(MYO7A):c.5378A>G (p.Asn1793Ser)
|
rs745704600
|
0.00001
|
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)
|
rs1164918878
|
0.00001
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
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.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.5772C>A (p.Ala1924=)
|
rs749438001
|
0.00001
|
NM_000260.4(MYO7A):c.5782T>C (p.Cys1928Arg)
|
rs774755172
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=)
|
rs886048682
|
0.00001
|
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His)
|
rs767931313
|
0.00001
|
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile)
|
rs371313080
|
0.00001
|
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln)
|
rs762420918
|
0.00001
|
NM_000260.4(MYO7A):c.5950G>T (p.Val1984Leu)
|
rs377517717
|
0.00001
|
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg)
|
rs560293591
|
0.00001
|
NM_000260.4(MYO7A):c.6002C>T (p.Thr2001Met)
|
rs532542968
|
0.00001
|
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)
|
rs1173853484
|
0.00001
|
NM_000260.4(MYO7A):c.6052-3C>T
|
rs368782885
|
0.00001
|
NM_000260.4(MYO7A):c.6089C>T (p.Thr2030Met)
|
rs768874284
|
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.6203T>G (p.Leu2068Arg)
|
rs779090765
|
0.00001
|
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser)
|
rs747131589
|
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.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.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.759C>T (p.His253=)
|
rs182220009
|
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_001164375.3(C10orf105):c.*3278G>A
|
rs776427467
|
0.00001
|
NM_001195794.1(CLRN1):c.-141C>T
|
rs769902137
|
0.00001
|
NM_001195794.1(CLRN1):c.-82T>C
|
rs778235601
|
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.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.1228G>T (p.Val410Leu)
|
rs1410944616
|
0.00001
|
NM_001384140.1(PCDH15):c.1244C>T (p.Ser415Leu)
|
rs747154146
|
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+11T>G
|
rs781463273
|
0.00001
|
NM_001384140.1(PCDH15):c.1440+7A>C
|
rs540070936
|
0.00001
|
NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala)
|
rs570048496
|
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.1780C>A (p.Arg594=)
|
rs1252259548
|
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.1970C>T (p.Pro657Leu)
|
rs757098609
|
0.00001
|
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser)
|
rs190878515
|
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.2348A>G (p.Asp783Gly)
|
rs765443935
|
0.00001
|
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys)
|
rs753912234
|
0.00001
|
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu)
|
rs397517453
|
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.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.2810C>T (p.Pro937Leu)
|
rs771024131
|
0.00001
|
NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly)
|
rs1223956690
|
0.00001
|
NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys)
|
rs780335938
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+3A>G
|
rs373365331
|
0.00001
|
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=)
|
rs776720353
|
0.00001
|
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr)
|
rs200748221
|
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.3932A>G (p.Tyr1311Cys)
|
rs752031456
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
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.4708C>T (p.Arg1570Ter)
|
rs770416107
|
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.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.1129G>T (p.Val377Leu)
|
rs1236403537
|
0.00001
|
NM_002109.6(HARS1):c.1156G>A (p.Val386Met)
|
rs766493535
|
0.00001
|
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp)
|
rs761949872
|
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.1311+4T>C
|
rs958234389
|
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.1407G>C (p.Gln469His)
|
rs1405966952
|
0.00001
|
NM_002109.6(HARS1):c.1490A>C (p.Glu497Ala)
|
rs1758219575
|
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.17C>G (p.Ala6Gly)
|
rs1461976080
|
0.00001
|
NM_002109.6(HARS1):c.188G>A (p.Arg63Lys)
|
rs1758827286
|
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.235G>A (p.Val79Ile)
|
rs1247876038
|
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.262G>A (p.Gly88Ser)
|
rs574448668
|
0.00001
|
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
|
rs1758818266
|
0.00001
|
NM_002109.6(HARS1):c.307C>G (p.Leu103Val)
|
rs556459899
|
0.00001
|
NM_002109.6(HARS1):c.335A>G (p.Lys112Arg)
|
rs746177150
|
0.00001
|
NM_002109.6(HARS1):c.363C>T (p.Gly121=)
|
rs372293095
|
0.00001
|
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
|
rs1408800953
|
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.493C>T (p.Arg165Cys)
|
rs760132903
|
0.00001
|
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln)
|
rs146922029
|
0.00001
|
NM_002109.6(HARS1):c.522+1G>A
|
rs375271566
|
0.00001
|
NM_002109.6(HARS1):c.532A>G (p.Ile178Val)
|
rs774329929
|
0.00001
|
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)
|
rs762976181
|
0.00001
|
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro)
|
rs762921085
|
0.00001
|
NM_002109.6(HARS1):c.713T>C (p.Val238Ala)
|
rs536175170
|
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.749A>G (p.Lys250Arg)
|
rs1758445064
|
0.00001
|
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg)
|
rs1319398620
|
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.829G>A (p.Val277Ile)
|
rs763899763
|
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.90+4A>C
|
rs776405841
|
0.00001
|
NM_002109.6(HARS1):c.93C>G (p.Ile31Met)
|
rs768408406
|
0.00001
|
NM_002109.6(HARS1):c.965del (p.Leu322fs)
|
rs774824253
|
0.00001
|
NM_002778.4(PSAP):c.*238G>C
|
rs1174797357
|
0.00001
|
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)
|
rs977658619
|
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.1097G>A (p.Arg366His)
|
rs763238664
|
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.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.2383C>T (p.Arg795Trp)
|
rs545286422
|
0.00001
|
NM_015404.4(WHRN):c.2419-5C>T
|
rs767910166
|
0.00001
|
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala)
|
rs569112844
|
0.00001
|
NM_015404.4(WHRN):c.2453G>A (p.Arg818His)
|
rs762248099
|
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_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.-38G>C
|
rs886047128
|
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.1168T>C (p.Leu390=)
|
rs369803887
|
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.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.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.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.1990G>A (p.Glu664Lys)
|
rs536056315
|
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.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.2310C>T (p.Asp770=)
|
rs886047131
|
0.00001
|
NM_022124.6(CDH23):c.234T>G (p.Phe78Leu)
|
rs562521392
|
0.00001
|
NM_022124.6(CDH23):c.2462A>G (p.Asn821Ser)
|
rs774080275
|
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.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.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.2953+10C>T
|
rs781572688
|
0.00001
|
NM_022124.6(CDH23):c.2971G>A (p.Glu991Lys)
|
rs551073659
|
0.00001
|
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met)
|
rs765270590
|
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.3305T>A (p.Phe1102Tyr)
|
rs369002480
|
0.00001
|
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln)
|
rs397517322
|
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.3491G>A (p.Arg1164Gln)
|
rs760170584
|
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.4070A>G (p.Gln1357Arg)
|
rs1038949759
|
0.00001
|
NM_022124.6(CDH23):c.4096G>A (p.Ala1366Thr)
|
rs1166886985
|
0.00001
|
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=)
|
rs369188108
|
0.00001
|
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=)
|
rs571668370
|
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.4427T>C (p.Ile1476Thr)
|
rs1197884550
|
0.00001
|
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp)
|
rs760927863
|
0.00001
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
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.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.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.5353G>A (p.Asp1785Asn)
|
rs397517338
|
0.00001
|
NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp)
|
rs145951744
|
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.5683C>T (p.Arg1895Cys)
|
rs201490610
|
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.6049G>A (p.Gly2017Ser)
|
rs183431253
|
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.6340G>A (p.Asp2114Asn)
|
rs977083222
|
0.00001
|
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg)
|
rs727504894
|
0.00001
|
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)
|
rs373462599
|
0.00001
|
NM_022124.6(CDH23):c.6562G>A (p.Glu2188Lys)
|
rs1444432865
|
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.6707A>G (p.Asn2236Ser)
|
rs545514111
|
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.7087G>A (p.Glu2363Lys)
|
rs753690054
|
0.00001
|
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly)
|
rs758727384
|
0.00001
|
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg)
|
rs181197242
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
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.7685C>T (p.Ser2562Leu)
|
rs538435711
|
0.00001
|
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His)
|
rs886047141
|
0.00001
|
NM_022124.6(CDH23):c.7834G>T (p.Val2612Leu)
|
rs1274482381
|
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.8113A>G (p.Met2705Val)
|
rs747249307
|
0.00001
|
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
|
rs556148352
|
0.00001
|
NM_022124.6(CDH23):c.8317G>A (p.Glu2773Lys)
|
rs765697060
|
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.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.8900G>A (p.Arg2967His)
|
rs373600041
|
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.9094G>A (p.Asp3032Asn)
|
rs368603948
|
0.00001
|
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=)
|
rs768198017
|
0.00001
|
NM_022124.6(CDH23):c.9139G>A (p.Val3047Ile)
|
rs558094423
|
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.9264G>C (p.Trp3088Cys)
|
rs876657759
|
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>T (p.Val3180Phe)
|
rs557490269
|
0.00001
|
NM_022124.6(CDH23):c.960C>T (p.Asn320=)
|
rs756644736
|
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.10053+9A>G
|
rs574636636
|
0.00001
|
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val)
|
rs747192045
|
0.00001
|
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser)
|
rs559004744
|
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.10801A>G (p.Arg3601Gly)
|
rs771934458
|
0.00001
|
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
|
rs375025827
|
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.12222G>A (p.Trp4074Ter)
|
rs1366388721
|
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.1309C>T (p.Arg437Trp)
|
rs765063390
|
0.00001
|
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=)
|
rs368497021
|
0.00001
|
NM_032119.4(ADGRV1):c.13433+9A>G
|
rs186025461
|
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.14546C>G (p.Thr4849Ser)
|
rs755079950
|
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.1707A>C (p.Gln569His)
|
rs1765206666
|
0.00001
|
NM_032119.4(ADGRV1):c.17204+12T>C
|
rs1766179569
|
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.18610G>A (p.Gly6204Ser)
|
rs745735875
|
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.3129G>A (p.Gly1043=)
|
rs753443586
|
0.00001
|
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro)
|
rs372262361
|
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.3931A>G (p.Thr1311Ala)
|
rs776663458
|
0.00001
|
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=)
|
rs111033484
|
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.5207A>G (p.Asp1736Gly)
|
rs773201854
|
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.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.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.8769T>C (p.Asn2923=)
|
rs753086932
|
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.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00001
|
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr)
|
rs779442763
|
0.00001
|
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=)
|
rs1051488396
|
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.4486G>A (p.Ala1496Thr)
|
rs1415736170
|
0.00001
|
NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn)
|
rs768952458
|
0.00001
|
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala)
|
rs751863041
|
0.00001
|
NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs)
|
rs748611625
|
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.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_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro)
|
rs751586980
|
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.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.1211-1107C>T
|
rs727504667
|
0.00001
|
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)
|
rs1406224812
|
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.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.2191C>T (p.Arg731Trp)
|
rs397517874
|
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.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.2378A>G (p.His793Arg)
|
rs868121889
|
0.00001
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
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.2656-1G>A
|
rs747133793
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
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.497-3C>A
|
rs958295779
|
0.00001
|
NM_153676.4(USH1C):c.538C>G (p.Leu180Val)
|
rs747331051
|
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.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.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.923G>A (p.Arg308Gln)
|
rs763948115
|
0.00001
|
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys)
|
rs760448018
|
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.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_174878.3(CLRN1):c.*815T>C
|
rs1397342628
|
0.00001
|
NM_174878.3(CLRN1):c.291C>T (p.Ile97=)
|
rs1231233910
|
0.00001
|
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg)
|
rs904836940
|
0.00001
|
NM_174878.3(CLRN1):c.433+10A>G
|
rs752878216
|
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.92C>G (p.Pro31Arg)
|
rs374390376
|
0.00001
|
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)
|
rs151199924
|
0.00001
|
NM_206933.4(USH2A):c.-204-15G>A
|
rs1162064882
|
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.10373C>T (p.Thr3458Met)
|
rs149485593
|
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.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.10763G>C (p.Gly3588Ala)
|
rs567356824
|
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.11089A>G (p.Thr3697Ala)
|
rs765454203
|
0.00001
|
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys)
|
rs758951363
|
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.11350A>C (p.Ile3784Leu)
|
rs1660884865
|
0.00001
|
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
|
rs200521328
|
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.11822G>A (p.Arg3941Gln)
|
rs727504582
|
0.00001
|
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr)
|
rs541566194
|
0.00001
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys)
|
rs772969352
|
0.00001
|
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu)
|
rs867523397
|
0.00001
|
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile)
|
rs751834009
|
0.00001
|
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg)
|
rs1174206381
|
0.00001
|
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His)
|
rs188008529
|
0.00001
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg)
|
rs138866017
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
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.12560G>A (p.Arg4187His)
|
rs147304271
|
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.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala)
|
rs145099178
|
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.12992A>G (p.Tyr4331Cys)
|
rs1423233510
|
0.00001
|
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val)
|
rs770620234
|
0.00001
|
NM_206933.4(USH2A):c.13148A>C (p.Asn4383Thr)
|
rs1418825414
|
0.00001
|
NM_206933.4(USH2A):c.1327A>C (p.Asn443His)
|
rs775075026
|
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.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)
|
rs1427845684
|
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.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.14153C>A (p.Ala4718Glu)
|
rs201631375
|
0.00001
|
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
|
rs55838724
|
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.14542C>T (p.Arg4848Trp)
|
rs757728612
|
0.00001
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe)
|
rs556415914
|
0.00001
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe)
|
rs41308423
|
0.00001
|
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)
|
rs397517996
|
0.00001
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr)
|
rs371182500
|
0.00001
|
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)
|
rs542341955
|
0.00001
|
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)
|
rs376816523
|
0.00001
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.15265T>C (p.Leu5089=)
|
rs746439490
|
0.00001
|
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)
|
rs759899869
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
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.15577G>T (p.Glu5193Ter)
|
rs1365989569
|
0.00001
|
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)
|
rs751811618
|
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.1761C>T (p.Asn587=)
|
rs1571668714
|
0.00001
|
NM_206933.4(USH2A):c.1840+4A>G
|
rs749288291
|
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.2167+4C>T
|
rs200638562
|
0.00001
|
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser)
|
rs776095235
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
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.2720C>T (p.Thr907Ile)
|
rs932726287
|
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.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.3310C>A (p.Pro1104Thr)
|
rs751890894
|
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.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr)
|
rs761752531
|
0.00001
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn)
|
rs772408328
|
0.00001
|
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)
|
rs780574336
|
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.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.419C>A (p.Pro140His)
|
rs759474177
|
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.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.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.4616C>T (p.Thr1539Ile)
|
rs758095361
|
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.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr)
|
rs1418438946
|
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.5041A>G (p.Asn1681Asp)
|
rs746010533
|
0.00001
|
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu)
|
rs144213699
|
0.00001
|
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile)
|
rs764080143
|
0.00001
|
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys)
|
rs375519871
|
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.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.5443A>G (p.Ser1815Gly)
|
rs940913250
|
0.00001
|
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
|
rs760543320
|
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.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.5992C>T (p.Arg1998Cys)
|
rs777886737
|
0.00001
|
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=)
|
rs995870865
|
0.00001
|
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp)
|
rs397518024
|
0.00001
|
NM_206933.4(USH2A):c.6119G>C (p.Cys2040Ser)
|
rs748371326
|
0.00001
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
|
rs758696021
|
0.00001
|
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala)
|
rs887441664
|
0.00001
|
NM_206933.4(USH2A):c.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.6805+195T>G
|
rs1193295201
|
0.00001
|
NM_206933.4(USH2A):c.6806-3C>T
|
rs775703386
|
0.00001
|
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met)
|
rs1195257429
|
0.00001
|
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser)
|
rs528089082
|
0.00001
|
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser)
|
rs150634036
|
0.00001
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
0.00001
|
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln)
|
rs772014718
|
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.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.7334C>T (p.Ser2445Phe)
|
rs41315579
|
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.7452-3C>T
|
rs768233894
|
0.00001
|
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=)
|
rs769678033
|
0.00001
|
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg)
|
rs781685696
|
0.00001
|
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe)
|
rs151037142
|
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.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.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.82A>G (p.Ile28Val)
|
rs753515909
|
0.00001
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
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.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
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.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
|
rs766298464
|
0.00001
|
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys)
|
rs1368683731
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser)
|
rs1229658229
|
0.00001
|
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser)
|
rs752996514
|
0.00001
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln)
|
rs774654676
|
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.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
|
NC_000005.10:g.(?_140676634)_(140678035_?)del
|
|
|
NC_000005.10:g.(?_140679002)_(140683219_?)dup
|
|
|
NC_000005.9:g.(?_140052489)_(140072312_?)del
|
|
|
NC_000005.9:g.(?_140058567)_(140062824_?)dup
|
|
|
NC_000005.9:g.140059894_140070834del
|
|
|
NM_000092.5(COL4A4):c.2624del (p.Pro875fs)
|
|
|
NM_000260.4(MYO7A):c.*416C>T
|
rs549702559
|
|
NM_000260.4(MYO7A):c.1004C>T (p.Ala335Val)
|
rs1565349265
|
|
NM_000260.4(MYO7A):c.1069T>C (p.Ser357Pro)
|
rs797033992
|
|
NM_000260.4(MYO7A):c.1092A>T (p.Pro364=)
|
rs1952856251
|
|
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.1165G>A (p.Glu389Lys)
|
rs782227657
|
|
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.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
|
NM_000260.4(MYO7A):c.1191C>T (p.Ala397=)
|
rs557165173
|
|
NM_000260.4(MYO7A):c.1213C>T (p.Arg405Trp)
|
rs375745526
|
|
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=)
|
rs886048673
|
|
NM_000260.4(MYO7A):c.132+6T>C
|
rs781852295
|
|
NM_000260.4(MYO7A):c.133-7_146dup
|
rs1555054558
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1344-7C>G
|
rs886048674
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)
|
rs397516286
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
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.1588_1605dup (p.Ser530_Asn535dup)
|
rs1555070084
|
|
NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr)
|
rs781843594
|
|
NM_000260.4(MYO7A):c.1655A>G (p.Asn552Ser)
|
rs782043663
|
|
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.1723G>A (p.Gly575Arg)
|
rs782154632
|
|
NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe)
|
rs1953517239
|
|
NM_000260.4(MYO7A):c.1798-3C>G
|
rs1555076939
|
|
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)
|
rs782311929
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met)
|
rs782412089
|
|
NM_000260.4(MYO7A):c.1868G>T (p.Arg623Leu)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)
|
rs1555078826
|
|
NM_000260.4(MYO7A):c.1961G>A (p.Arg654His)
|
rs41298143
|
|
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del)
|
rs1555054736
|
|
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val)
|
rs1555078946
|
|
NM_000260.4(MYO7A):c.2001C>T (p.Ile667=)
|
rs782026699
|
|
NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro)
|
rs781991817
|
|
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.2248C>T (p.Leu750Phe)
|
rs1224881006
|
|
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)
|
rs778880077
|
|
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.2488C>T (p.Arg830Cys)
|
rs797044493
|
|
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)
|
rs397516296
|
|
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.2649G>A (p.Glu883=)
|
rs1955078498
|
|
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)
|
rs782227741
|
|
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.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.2787G>A (p.Met929Ile)
|
rs536410625
|
|
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.2960C>T (p.Pro987Leu)
|
rs397516298
|
|
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.3090C>A (p.Asp1030Glu)
|
rs782192026
|
|
NM_000260.4(MYO7A):c.3109-15C>T
|
rs369729874
|
|
NM_000260.4(MYO7A):c.3109-27_3109-7dup
|
rs1555085333
|
|
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.3260T>G (p.Leu1087Arg)
|
rs375050157
|
|
NM_000260.4(MYO7A):c.3292C>G (p.Leu1098Val)
|
rs1591386678
|
|
NM_000260.4(MYO7A):c.3489G>A (p.Leu1163=)
|
rs1555087287
|
|
NM_000260.4(MYO7A):c.3503+8C>A
|
rs1955532068
|
|
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.358C>T (p.Arg120Cys)
|
rs397516302
|
|
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
|
rs782694195
|
|
NM_000260.4(MYO7A):c.3607G>T (p.Ala1203Ser)
|
rs568301918
|
|
NM_000260.4(MYO7A):c.3631-6C>A
|
rs1047678585
|
|
NM_000260.4(MYO7A):c.3688C>T (p.Arg1230Cys)
|
rs776862829
|
|
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser)
|
rs775908821
|
|
NM_000260.4(MYO7A):c.3751-14T>C
|
rs1955994846
|
|
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser)
|
rs749747871
|
|
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.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.397C>G (p.His133Asp)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del)
|
rs1555092931
|
|
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.4115T>G (p.Val1372Gly)
|
rs869312181
|
|
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln)
|
rs886048677
|
|
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.4171C>G (p.Leu1391Val)
|
rs727504594
|
|
NM_000260.4(MYO7A):c.4194A>G (p.Val1398=)
|
rs1591438864
|
|
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys)
|
rs377391891
|
|
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.4379G>C (p.Ser1460Thr)
|
rs746713762
|
|
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln)
|
rs1956761416
|
|
NM_000260.4(MYO7A):c.4465G>A (p.Val1489Ile)
|
rs1265094428
|
|
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.4630G>A (p.Gly1544Ser)
|
rs886048678
|
|
NM_000260.4(MYO7A):c.4676C>T (p.Ser1559Phe)
|
rs773381538
|
|
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)
|
rs759430551
|
|
NM_000260.4(MYO7A):c.4759G>T (p.Ala1587Ser)
|
rs1956929954
|
|
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys)
|
rs1181067492
|
|
NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu)
|
rs1956933257
|
|
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup)
|
rs1555100610
|
|
NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp)
|
rs1265861779
|
|
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.5018T>A (p.Val1673Asp)
|
rs1957069970
|
|
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+3A>G
|
|
|
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.5146G>A (p.Glu1716Lys)
|
rs1236207116
|
|
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=)
|
rs886048681
|
|
NM_000260.4(MYO7A):c.5253G>A (p.Pro1751=)
|
rs377388669
|
|
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr)
|
rs762131185
|
|
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.5445G>A (p.Val1815=)
|
rs910989813
|
|
NM_000260.4(MYO7A):c.5458C>G (p.Gln1820Glu)
|
rs369973293
|
|
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.5589C>T (p.His1863=)
|
rs727504024
|
|
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=)
|
rs747516555
|
|
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln)
|
rs886048672
|
|
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.578C>A (p.Thr193Asn)
|
rs1188616455
|
|
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)
|
rs1188616455
|
|
NM_000260.4(MYO7A):c.5809C>T (p.Leu1937Phe)
|
rs1957516566
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.5826A>G (p.Gly1942=)
|
rs1957519037
|
|
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)
|
rs948962
|
|
NM_000260.4(MYO7A):c.5899C>G (p.Arg1967Gly)
|
rs376764423
|
|
NM_000260.4(MYO7A):c.5945-9G>C
|
rs1233077552
|
|
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met)
|
rs377517717
|
|
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile)
|
rs1957642204
|
|
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.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp)
|
rs1957846244
|
|
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp)
|
rs759614902
|
|
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=)
|
rs727504834
|
|
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.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.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.6509C>T (p.Thr2170Ile)
|
rs544709413
|
|
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr)
|
rs1591515086
|
|
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.736-3C>T
|
rs1555063792
|
|
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala)
|
rs782636303
|
|
NM_000260.4(MYO7A):c.843G>A (p.Leu281=)
|
rs1555064274
|
|
NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly)
|
rs1952692105
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
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_001195263.2(PDZD7):c.2432G>A (p.Arg811His)
|
rs1852354254
|
|
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn)
|
rs145910584
|
|
NM_001195794.1(CLRN1):c.-186A>G
|
rs1715627039
|
|
NM_001195794.1(CLRN1):c.-229A>G
|
rs575451901
|
|
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
|
|
|
NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu)
|
|
|
NM_001347.4(DGKQ):c.200C>T (p.Thr67Met)
|
|
|
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.1098+14A>G
|
rs764625426
|
|
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=)
|
rs1315291067
|
|
NM_001384140.1(PCDH15):c.1220C>T (p.Ser407Phe)
|
rs886047067
|
|
NM_001384140.1(PCDH15):c.1373G>A (p.Gly458Asp)
|
rs766969775
|
|
NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly)
|
rs1294048440
|
|
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr)
|
rs1564625358
|
|
NM_001384140.1(PCDH15):c.1450T>C (p.Phe484Leu)
|
rs565753445
|
|
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser)
|
rs1196401374
|
|
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.1757C>T (p.Ala586Val)
|
rs201301491
|
|
NM_001384140.1(PCDH15):c.1799C>G (p.Thr600Ser)
|
rs1371226970
|
|
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
|
|
|
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.1924G>A (p.Asp642Asn)
|
rs1455035148
|
|
NM_001384140.1(PCDH15):c.1934G>T (p.Gly645Val)
|
rs763226433
|
|
NM_001384140.1(PCDH15):c.1998-21GTTT[2]
|
rs763135922
|
|
NM_001384140.1(PCDH15):c.2001G>A (p.Thr667=)
|
rs200699443
|
|
NM_001384140.1(PCDH15):c.2047C>T (p.Arg683Cys)
|
rs573043647
|
|
NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile)
|
rs1471005419
|
|
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala)
|
rs749438162
|
|
NM_001384140.1(PCDH15):c.2220+9A>G
|
rs886047065
|
|
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu)
|
rs375282189
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2522T>C (p.Ile841Thr)
|
rs567811243
|
|
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
|
|
|
NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn)
|
rs2092876050
|
|
NM_001384140.1(PCDH15):c.2723G>A (p.Gly908Asp)
|
rs746314678
|
|
NM_001384140.1(PCDH15):c.2751+7G>T
|
rs2092871169
|
|
NM_001384140.1(PCDH15):c.2751+8C>T
|
rs1360011079
|
|
NM_001384140.1(PCDH15):c.2868+5G>A
|
rs757993503
|
|
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.2897G>C (p.Arg966Thr)
|
rs568865061
|
|
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=)
|
rs2088092428
|
|
NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala)
|
rs2134276764
|
|
NM_001384140.1(PCDH15):c.3074T>C (p.Leu1025Pro)
|
rs2088082400
|
|
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg)
|
rs2086006894
|
|
NM_001384140.1(PCDH15):c.321A>C (p.Pro107=)
|
rs1345969752
|
|
NM_001384140.1(PCDH15):c.3313C>A (p.Leu1105Ile)
|
rs1240526910
|
|
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.3502-10del
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.3502-13dup
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.3711T>C (p.Asp1237=)
|
rs61731382
|
|
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.3797A>C (p.Asp1266Ala)
|
rs2078805937
|
|
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.3964G>C (p.Asp1322His)
|
rs1411262816
|
|
NM_001384140.1(PCDH15):c.3983+2dup
|
rs1554827124
|
|
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.4039G>A (p.Glu1347Lys)
|
rs1358647851
|
|
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.4202+5G>A
|
rs886047063
|
|
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.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[8] (p.Pro1441_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
|
|
|
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=)
|
rs949983423
|
|
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)
|
|
|
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu)
|
rs767761740
|
|
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys)
|
rs397517459
|
|
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr)
|
rs2076749331
|
|
NM_001384140.1(PCDH15):c.4368-1116G>C
|
rs571779869
|
|
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.440T>G (p.Phe147Cys)
|
|
|
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+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
|
|
|
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+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.4672-1648_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.4828_4835del (p.Ser1610fs)
|
rs750833316
|
|
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala)
|
rs775845546
|
|
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.665A>G (p.Tyr222Cys)
|
rs755845400
|
|
NM_001384140.1(PCDH15):c.705+2_705+3insTT
|
rs1554903836
|
|
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.803G>A (p.Cys268Tyr)
|
rs1283739647
|
|
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+7A>G
|
rs1435301478
|
|
NM_001384140.1(PCDH15):c.92-515T>G
|
rs1283842168
|
|
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe)
|
rs145011716
|
|
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
|
|
|
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.1007A>G (p.Tyr336Cys)
|
rs2149823058
|
|
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)
|
|
|
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile)
|
rs1562005331
|
|
NM_002109.6(HARS1):c.1034C>A (p.Ala345Asp)
|
|
|
NM_002109.6(HARS1):c.1040C>T (p.Ala347Val)
|
|
|
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys)
|
rs1371763515
|
|
NM_002109.6(HARS1):c.1048G>T (p.Glu350Ter)
|
|
|
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.1055T>G (p.Leu352Arg)
|
|
|
NM_002109.6(HARS1):c.1058G>C (p.Gly353Ala)
|
|
|
NM_002109.6(HARS1):c.1061_1062del (p.Val354fs)
|
|
|
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.1090G>C (p.Asp364His)
|
|
|
NM_002109.6(HARS1):c.1093G>A (p.Gly365Arg)
|
|
|
NM_002109.6(HARS1):c.1106T>C (p.Met369Thr)
|
rs764631385
|
|
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)
|
rs753104645
|
|
NM_002109.6(HARS1):c.1118A>G (p.Lys373Arg)
|
|
|
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)
|
|
|
NM_002109.6(HARS1):c.1150A>T (p.Ile384Phe)
|
|
|
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
|
rs1758381320
|
|
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys)
|
rs1758380241
|
|
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.1185G>C (p.Gln395His)
|
rs546882914
|
|
NM_002109.6(HARS1):c.1186A>G (p.Arg396Gly)
|
rs2149822607
|
|
NM_002109.6(HARS1):c.1195-14T>A
|
|
|
NM_002109.6(HARS1):c.1195-9_1195-8delinsTA
|
|
|
NM_002109.6(HARS1):c.1195G>T (p.Ala399Ser)
|
|
|
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)
|
|
|
NM_002109.6(HARS1):c.1225A>G (p.Thr409Ala)
|
|
|
NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter)
|
rs866572603
|
|
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)
|
|
|
NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys)
|
|
|
NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu)
|
|
|
NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA
|
rs2149819821
|
|
NM_002109.6(HARS1):c.1328A>G (p.Lys443Arg)
|
|
|
NM_002109.6(HARS1):c.1358A>G (p.Gln453Arg)
|
rs2149819642
|
|
NM_002109.6(HARS1):c.137G>A (p.Gly46Asp)
|
|
|
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)
|
rs754304255
|
|
NM_002109.6(HARS1):c.1406A>C (p.Gln469Pro)
|
|
|
NM_002109.6(HARS1):c.1414A>G (p.Lys472Glu)
|
|
|
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.1433T>G (p.Leu478Arg)
|
rs1024985302
|
|
NM_002109.6(HARS1):c.1435C>T (p.Arg479Cys)
|
rs768174431
|
|
NM_002109.6(HARS1):c.1436G>A (p.Arg479His)
|
|
|
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)
|
rs1581500046
|
|
NM_002109.6(HARS1):c.143A>G (p.Asp48Gly)
|
|
|
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)
|
|
|
NM_002109.6(HARS1):c.1459G>A (p.Val487Met)
|
|
|
NM_002109.6(HARS1):c.145G>A (p.Glu49Lys)
|
|
|
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)
|
|
|
NM_002109.6(HARS1):c.1486G>C (p.Glu496Gln)
|
|
|
NM_002109.6(HARS1):c.148A>C (p.Ser50Arg)
|
|
|
NM_002109.6(HARS1):c.1492A>G (p.Ile498Val)
|
rs2149818483
|
|
NM_002109.6(HARS1):c.1495A>T (p.Lys499Ter)
|
|
|
NM_002109.6(HARS1):c.1499G>A (p.Arg500Lys)
|
|
|
NM_002109.6(HARS1):c.149G>A (p.Ser50Asn)
|
|
|
NM_002109.6(HARS1):c.1505_1506dup (p.Gly503fs)
|
|
|
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.1512G>T (p.Gln504His)
|
|
|
NM_002109.6(HARS1):c.170A>G (p.Lys57Arg)
|
|
|
NM_002109.6(HARS1):c.173C>T (p.Thr58Ile)
|
|
|
NM_002109.6(HARS1):c.175C>T (p.Pro59Ser)
|
rs1759373051
|
|
NM_002109.6(HARS1):c.178A>C (p.Lys60Gln)
|
|
|
NM_002109.6(HARS1):c.180+4A>T
|
rs2149844902
|
|
NM_002109.6(HARS1):c.180G>A (p.Lys60=)
|
|
|
NM_002109.6(HARS1):c.192_198delinsACTG (p.Asp64_Ser66delinsGluLeu)
|
|
|
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.207G>C (p.Gln69His)
|
rs1758823982
|
|
NM_002109.6(HARS1):c.217C>T (p.Arg73Cys)
|
|
|
NM_002109.6(HARS1):c.223_225del (p.Lys75del)
|
rs1185763867
|
|
NM_002109.6(HARS1):c.241A>G (p.Ile81Val)
|
|
|
NM_002109.6(HARS1):c.241A>T (p.Ile81Phe)
|
|
|
NM_002109.6(HARS1):c.245G>C (p.Arg82Pro)
|
|
|
NM_002109.6(HARS1):c.261C>G (p.His87Gln)
|
|
|
NM_002109.6(HARS1):c.280A>G (p.Thr94Ala)
|
|
|
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)
|
|
|
NM_002109.6(HARS1):c.2T>C (p.Met1Thr)
|
rs1759420438
|
|
NM_002109.6(HARS1):c.300+4del
|
|
|
NM_002109.6(HARS1):c.300+6G>A
|
|
|
NM_002109.6(HARS1):c.300G>A (p.Lys100=)
|
|
|
NM_002109.6(HARS1):c.317A>G (p.Lys106Arg)
|
rs1281935760
|
|
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.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.386A>G (p.Tyr129Cys)
|
|
|
NM_002109.6(HARS1):c.388G>A (p.Asp130Asn)
|
|
|
NM_002109.6(HARS1):c.391C>T (p.Leu131Phe)
|
|
|
NM_002109.6(HARS1):c.392T>G (p.Leu131Arg)
|
|
|
NM_002109.6(HARS1):c.397-10_397-9del
|
rs886060020
|
|
NM_002109.6(HARS1):c.398T>A (p.Val133Asp)
|
rs2149826951
|
|
NM_002109.6(HARS1):c.398T>C (p.Val133Ala)
|
|
|
NM_002109.6(HARS1):c.401C>G (p.Pro134Arg)
|
rs863225122
|
|
NM_002109.6(HARS1):c.407C>T (p.Ala136Val)
|
rs1334234821
|
|
NM_002109.6(HARS1):c.423G>T (p.Met141Ile)
|
|
|
NM_002109.6(HARS1):c.437_439dup (p.Asn146dup)
|
rs755088410
|
|
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)
|
rs1394473077
|
|
NM_002109.6(HARS1):c.440T>C (p.Ile147Thr)
|
|
|
NM_002109.6(HARS1):c.443_444dup (p.Arg149fs)
|
|
|
NM_002109.6(HARS1):c.454A>G (p.Ile152Val)
|
|
|
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser)
|
rs746887565
|
|
NM_002109.6(HARS1):c.465A>T (p.Val155=)
|
|
|
NM_002109.6(HARS1):c.467A>G (p.Tyr156Cys)
|
|
|
NM_002109.6(HARS1):c.485C>T (p.Ala162Val)
|
|
|
NM_002109.6(HARS1):c.489G>A (p.Met163Ile)
|
|
|
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)
|
rs1759420210
|
|
NM_002109.6(HARS1):c.4del (p.Ala2fs)
|
|
|
NM_002109.6(HARS1):c.505C>T (p.Arg169Trp)
|
|
|
NM_002109.6(HARS1):c.515A>G (p.Tyr172Cys)
|
|
|
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
|
rs1758491184
|
|
NM_002109.6(HARS1):c.553A>G (p.Met185Val)
|
|
|
NM_002109.6(HARS1):c.553A>T (p.Met185Leu)
|
|
|
NM_002109.6(HARS1):c.562G>C (p.Asp188His)
|
rs1758489449
|
|
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)
|
|
|
NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)
|
|
|
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter)
|
rs780654800
|
|
NM_002109.6(HARS1):c.611T>C (p.Ile204Thr)
|
|
|
NM_002109.6(HARS1):c.612A>G (p.Ile204Met)
|
rs1562008815
|
|
NM_002109.6(HARS1):c.616G>A (p.Asp206Asn)
|
|
|
NM_002109.6(HARS1):c.629_630+4del
|
rs1562008713
|
|
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
|
rs1759411593
|
|
NM_002109.6(HARS1):c.630+6A>G
|
|
|
NM_002109.6(HARS1):c.630+8C>G
|
rs1021221934
|
|
NM_002109.6(HARS1):c.631-3C>T
|
rs533067917
|
|
NM_002109.6(HARS1):c.637G>T (p.Asp213Tyr)
|
|
|
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)
|
rs1562008284
|
|
NM_002109.6(HARS1):c.640C>T (p.Arg214Ter)
|
|
|
NM_002109.6(HARS1):c.643C>T (p.Arg215Cys)
|
|
|
NM_002109.6(HARS1):c.660G>A (p.Met220Ile)
|
|
|
NM_002109.6(HARS1):c.662T>C (p.Phe221Ser)
|
rs2149824713
|
|
NM_002109.6(HARS1):c.664G>A (p.Ala222Thr)
|
|
|
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.689A>G (p.Lys230Arg)
|
rs1416014791
|
|
NM_002109.6(HARS1):c.693C>G (p.Phe231Leu)
|
|
|
NM_002109.6(HARS1):c.695G>T (p.Arg232Leu)
|
|
|
NM_002109.6(HARS1):c.697A>G (p.Thr233Ala)
|
|
|
NM_002109.6(HARS1):c.730-20A>G
|
|
|
NM_002109.6(HARS1):c.730-2A>G
|
|
|
NM_002109.6(HARS1):c.730G>A (p.Val244Met)
|
|
|
NM_002109.6(HARS1):c.74A>G (p.Lys25Arg)
|
|
|
NM_002109.6(HARS1):c.752A>C (p.Asn251Thr)
|
rs748594458
|
|
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.801T>G (p.Ile267Met)
|
|
|
NM_002109.6(HARS1):c.802G>C (p.Gly268Arg)
|
rs2149823964
|
|
NM_002109.6(HARS1):c.80G>A (p.Ser27Asn)
|
|
|
NM_002109.6(HARS1):c.815A>G (p.Gln272Arg)
|
|
|
NM_002109.6(HARS1):c.823+6G>C
|
rs1758439013
|
|
NM_002109.6(HARS1):c.824-10G>C
|
|
|
NM_002109.6(HARS1):c.824-1G>A
|
|
|
NM_002109.6(HARS1):c.824-3C>T
|
|
|
NM_002109.6(HARS1):c.826G>C (p.Gly276Arg)
|
rs2149823561
|
|
NM_002109.6(HARS1):c.827G>T (p.Gly276Val)
|
|
|
NM_002109.6(HARS1):c.829G>T (p.Val277Leu)
|
|
|
NM_002109.6(HARS1):c.836T>A (p.Leu279Gln)
|
|
|
NM_002109.6(HARS1):c.840G>A (p.Val280=)
|
rs1275864095
|
|
NM_002109.6(HARS1):c.856G>A (p.Asp286Asn)
|
|
|
NM_002109.6(HARS1):c.862A>G (p.Lys288Glu)
|
|
|
NM_002109.6(HARS1):c.869C>G (p.Ser290Cys)
|
|
|
NM_002109.6(HARS1):c.86A>T (p.Glu29Val)
|
|
|
NM_002109.6(HARS1):c.880C>A (p.Gln294Lys)
|
|
|
NM_002109.6(HARS1):c.888G>T (p.Leu296Phe)
|
|
|
NM_002109.6(HARS1):c.898G>A (p.Gly300Arg)
|
|
|
NM_002109.6(HARS1):c.90+1G>A
|
|
|
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)
|
|
|
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del)
|
rs794727969
|
|
NM_002109.6(HARS1):c.913C>T (p.Leu305Phe)
|
|
|
NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe)
|
|
|
NM_002109.6(HARS1):c.952A>T (p.Ile318Phe)
|
|
|
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del)
|
rs962526639
|
|
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.989A>G (p.Tyr330Cys)
|
rs1554106881
|
|
NM_002109.6(HARS1):c.994A>G (p.Thr332Ala)
|
|
|
NM_004086.3(COCH):c.731C>T (p.Thr244Ile)
|
rs750832640
|
|
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.1283A>G (p.Gln428Arg)
|
rs746527367
|
|
NM_005709.4(USH1C):c.1284+6880del
|
rs745622612
|
|
NM_006017.3(PROM1):c.1983+5G>T
|
rs1560421595
|
|
NM_006044.4(HDAC6):c.1121C>G (p.Ala374Gly)
|
|
|
NM_006383.4(CIB2):c.401G>T (p.Arg134Leu)
|
rs199819065
|
|
NM_015404.4(WHRN):c.*126C>A
|
rs1834758281
|
|
NM_015404.4(WHRN):c.*156G>A
|
rs567661962
|
|
NM_015404.4(WHRN):c.*175C>T
|
rs1834755674
|
|
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.-499G>A
|
rs886063375
|
|
NM_015404.4(WHRN):c.-517C>T
|
rs886063376
|
|
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.1627-7T>G
|
rs1835163569
|
|
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro)
|
rs775066754
|
|
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.2173G>A (p.Glu725Lys)
|
rs376805417
|
|
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln)
|
rs376805417
|
|
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val)
|
rs751455932
|
|
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.328A>G (p.Thr110Ala)
|
rs572312301
|
|
NM_015404.4(WHRN):c.680G>T (p.Gly227Val)
|
rs908185393
|
|
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp)
|
rs143165834
|
|
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.-168C>T
|
rs886047126
|
|
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.-6+13A>C
|
rs1847565256
|
|
NM_022124.6(CDH23):c.10041C>A (p.Thr3347=)
|
rs538081113
|
|
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr)
|
rs745358868
|
|
NM_022124.6(CDH23):c.1117G>A (p.Val373Met)
|
rs573032828
|
|
NM_022124.6(CDH23):c.1141-3C>T
|
rs1862820418
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
NM_022124.6(CDH23):c.1342A>T (p.Ile448Phe)
|
rs760730664
|
|
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys)
|
rs727504613
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile)
|
rs1862880669
|
|
NM_022124.6(CDH23):c.1566C>T (p.Asp522=)
|
rs1864422770
|
|
NM_022124.6(CDH23):c.1699G>T (p.Val567Leu)
|
rs377148854
|
|
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala)
|
rs1864515873
|
|
NM_022124.6(CDH23):c.1936G>A (p.Ala646Thr)
|
rs1864696694
|
|
NM_022124.6(CDH23):c.1986+10C>A
|
rs1864699424
|
|
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.2182A>G (p.Ile728Val)
|
rs1865286018
|
|
NM_022124.6(CDH23):c.2193G>A (p.Thr731=)
|
rs397517315
|
|
NM_022124.6(CDH23):c.2290-13del
|
rs397517316
|
|
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.2353A>C (p.Ile785Leu)
|
rs886047132
|
|
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp)
|
rs1203928940
|
|
NM_022124.6(CDH23):c.2592C>G (p.Gly864=)
|
rs747891923
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
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.2842G>T (p.Val948Phe)
|
rs2132740122
|
|
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
|
|
|
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)
|
|
|
NM_022124.6(CDH23):c.2929T>C (p.Ser977Pro)
|
rs1865733199
|
|
NM_022124.6(CDH23):c.2952T>C (p.His984=)
|
rs1564744738
|
|
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.3179G>A (p.Arg1060Gln)
|
rs536438868
|
|
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.3468T>G (p.Asn1156Lys)
|
rs751046027
|
|
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.3613G>T (p.Ala1205Ser)
|
rs886047134
|
|
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val)
|
rs886047135
|
|
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.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.4104+4A>T
|
rs483353052
|
|
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn)
|
rs752442832
|
|
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg)
|
rs1438134577
|
|
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.4418A>G (p.Asn1473Ser)
|
rs1653650223
|
|
NM_022124.6(CDH23):c.4435G>A (p.Val1479Met)
|
rs1839682678
|
|
NM_022124.6(CDH23):c.4543G>T (p.Val1515Leu)
|
rs758050912
|
|
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.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.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys)
|
rs759706770
|
|
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys)
|
rs371522191
|
|
NM_022124.6(CDH23):c.5385T>C (p.Ser1795=)
|
rs1841037687
|
|
NM_022124.6(CDH23):c.5477G>A (p.Arg1826Gln)
|
rs780097768
|
|
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.586G>C (p.Glu196Gln)
|
rs753985914
|
|
NM_022124.6(CDH23):c.588G>A (p.Glu196=)
|
rs886047129
|
|
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe)
|
rs2132947982
|
|
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=)
|
rs542473653
|
|
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.6320G>T (p.Arg2107Leu)
|
rs780094972
|
|
NM_022124.6(CDH23):c.6322A>G (p.Ile2108Val)
|
rs1453941490
|
|
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=)
|
rs368155422
|
|
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys)
|
rs375329233
|
|
NM_022124.6(CDH23):c.6375C>A (p.Ile2125=)
|
rs16929354
|
|
NM_022124.6(CDH23):c.6440C>A (p.Thr2147Asn)
|
rs769241730
|
|
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.6841G>A (p.Val2281Ile)
|
rs2132965400
|
|
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.7060G>T (p.Val2354Phe)
|
rs1589428432
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
NM_022124.6(CDH23):c.7263C>A (p.Ile2421=)
|
rs1841497737
|
|
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.7581G>A (p.Ser2527=)
|
rs751607601
|
|
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.7661-9C>T
|
rs577559462
|
|
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.8154C>T (p.Asn2718=)
|
rs1841717352
|
|
NM_022124.6(CDH23):c.8178A>T (p.Pro2726=)
|
rs1208919337
|
|
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.8244C>T (p.Gly2748=)
|
rs1841760426
|
|
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)
|
rs397517356
|
|
NM_022124.6(CDH23):c.8282A>G (p.Asn2761Ser)
|
rs779835256
|
|
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys)
|
rs397517357
|
|
NM_022124.6(CDH23):c.8308+4G>C
|
rs751021859
|
|
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del)
|
rs876657758
|
|
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His)
|
rs202147495
|
|
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser)
|
rs886047130
|
|
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.9014C>T (p.Ala3005Val)
|
rs188966938
|
|
NM_022124.6(CDH23):c.901C>A (p.Arg301=)
|
rs397517364
|
|
NM_022124.6(CDH23):c.9137A>G (p.Asn3046Ser)
|
rs1841918209
|
|
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu)
|
rs876657760
|
|
NM_022124.6(CDH23):c.9292C>T (p.Leu3098Phe)
|
rs746788999
|
|
NM_022124.6(CDH23):c.9336C>A (p.Ile3112=)
|
rs1841945407
|
|
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.9458C>T (p.Pro3153Leu)
|
rs762930029
|
|
NM_022124.6(CDH23):c.9510+14G>T
|
rs188563959
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|
NM_022124.6(CDH23):c.9538G>A (p.Val3180Ile)
|
rs557490269
|
|
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del)
|
rs763993100
|
|
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_032119.4(ADGRV1):c.*18G>C
|
rs368671859
|
|
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.10517G>A (p.Arg3506Lys)
|
rs764955627
|
|
NM_032119.4(ADGRV1):c.10974G>C (p.Gln3658His)
|
rs794727754
|
|
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr)
|
rs2149973588
|
|
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val)
|
rs1756212683
|
|
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=)
|
rs1757979533
|
|
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile)
|
rs1757987875
|
|
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn)
|
rs1455010773
|
|
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg)
|
rs1758428874
|
|
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)
|
rs571603222
|
|
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu)
|
rs769915981
|
|
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val)
|
rs749839670
|
|
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg)
|
rs775508830
|
|
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter)
|
rs1338081758
|
|
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.14494G>A (p.Asp4832Asn)
|
rs2150136010
|
|
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe)
|
rs373391623
|
|
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.15496A>T (p.Thr5166Ser)
|
rs1762365729
|
|
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val)
|
rs937520838
|
|
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser)
|
rs1385789921
|
|
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.17188G>T (p.Gly5730Cys)
|
rs745645525
|
|
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn)
|
rs749894314
|
|
NM_032119.4(ADGRV1):c.17455-6T>C
|
rs773817946
|
|
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=)
|
rs1766790878
|
|
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
|
|
|
NM_032119.4(ADGRV1):c.18433-13T>C
|
rs1313679502
|
|
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=)
|
rs1458060011
|
|
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro)
|
rs756976267
|
|
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe)
|
rs375652742
|
|
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=)
|
rs1393079124
|
|
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=)
|
rs1767484423
|
|
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp)
|
rs1327028321
|
|
NM_032119.4(ADGRV1):c.3022+9G>C
|
rs1767715969
|
|
NM_032119.4(ADGRV1):c.3416+9A>G
|
rs1228297663
|
|
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.409A>G (p.Ile137Val)
|
rs575602255
|
|
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val)
|
rs1561464218
|
|
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu)
|
rs1300795240
|
|
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.5674C>T (p.His1892Tyr)
|
rs1487676914
|
|
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=)
|
rs1445702123
|
|
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.5830G>T (p.Asp1944Tyr)
|
rs41302834
|
|
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.6083C>T (p.Pro2028Leu)
|
rs764451392
|
|
NM_032119.4(ADGRV1):c.6293T>C (p.Leu2098Pro)
|
|
|
NM_032119.4(ADGRV1):c.6491-10G>A
|
rs1746236391
|
|
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.6952G>T (p.Val2318Phe)
|
rs1338945655
|
|
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln)
|
rs1764885190
|
|
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.7571T>A (p.Val2524Glu)
|
rs191036195
|
|
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile)
|
rs770016069
|
|
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.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.8488C>G (p.Leu2830Val)
|
rs555466095
|
|
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.9624-4T>A
|
rs1750838817
|
|
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met)
|
rs776345555
|
|
NM_033056.4(PCDH15):c.4368-1_4369dup
|
rs1554821139
|
|
NM_033056.4(PCDH15):c.4368-3_4379dup
|
rs1554821131
|
|
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.4409_4413dup (p.Val1472fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs)
|
rs767621707
|
|
NM_033056.4(PCDH15):c.4435CAA[1] (p.Gln1480del)
|
rs1358121247
|
|
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.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.4596C>T (p.Asn1532=)
|
rs2076416258
|
|
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.4728_4736dup (p.Val1578_Ser1579insArgSerVal)
|
rs2076402324
|
|
NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs)
|
rs770063261
|
|
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.4812del (p.Arg1604fs)
|
rs1554820651
|
|
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter)
|
rs1554820648
|
|
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs)
|
rs1554820630
|
|
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs)
|
rs1554820628
|
|
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup)
|
rs1554820580
|
|
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.5177C>T (p.Thr1726Ile)
|
rs772619593
|
|
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.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.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
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.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.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.5513_5514del (p.Thr1838fs)
|
rs1554819767
|
|
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)
|
rs1554819761
|
|
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.5597C>G (p.Ser1866Ter)
|
rs2076312170
|
|
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala)
|
rs1420803454
|
|
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.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.5863del (p.Leu1955fs)
|
rs1554819436
|
|
NM_153676.4(USH1C):c.*95C>T
|
rs552838747
|
|
NM_153676.4(USH1C):c.-60T>G
|
rs371444878
|
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
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.1216G>T (p.Gly406Ter)
|
rs1554959148
|
|
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.1413+2T>C
|
rs1344670523
|
|
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.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
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.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.2225T>C (p.Met742Thr)
|
rs200182990
|
|
NM_153676.4(USH1C):c.2265C>G (p.Leu755=)
|
rs151251262
|
|
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.2374C>A (p.Arg792=)
|
rs200428926
|
|
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.2401G>A (p.Glu801Lys)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)
|
rs779253356
|
|
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)
|
rs1849309216
|
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2528dup (p.Glu844fs)
|
rs1554953360
|
|
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.341T>C (p.Ile114Thr)
|
rs767655370
|
|
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser)
|
rs1850953775
|
|
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.501C>T (p.Ile167=)
|
rs1382747364
|
|
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.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.598G>A (p.Gly200Ser)
|
rs770543827
|
|
NM_153676.4(USH1C):c.634G>A (p.Val212Ile)
|
rs886048060
|
|
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
|
rs267602805
|
|
NM_153676.4(USH1C):c.776T>G (p.Val259Gly)
|
rs772108970
|
|
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)
|
rs574790229
|
|
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
|
rs1554960929
|
|
NM_173477.5(USH1G):c.*1130T>C
|
rs559327953
|
|
NM_173477.5(USH1G):c.*1150TG[5]
|
rs368387485
|
|
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.-76A>G
|
rs1219469632
|
|
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser)
|
rs2038910336
|
|
NM_173477.5(USH1G):c.126T>C (p.His42=)
|
rs1394276163
|
|
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.424G>C (p.Glu142Gln)
|
rs111033466
|
|
NM_173477.5(USH1G):c.644del (p.Lys215fs)
|
rs1567940040
|
|
NM_173477.5(USH1G):c.753C>T (p.Ser251=)
|
rs886053389
|
|
NM_174878.3(CLRN1):c.*1262G>A
|
rs1477382233
|
|
NM_174878.3(CLRN1):c.*265AT[5]
|
rs550716419
|
|
NM_174878.3(CLRN1):c.*277GT[11]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[12]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[15]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[16]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*537T>C
|
rs1712862411
|
|
NM_174878.3(CLRN1):c.*592G>C
|
rs750506543
|
|
NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg)
|
rs903439082
|
|
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.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.268C>G (p.Leu90Val)
|
rs1325008535
|
|
NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg)
|
rs1553776112
|
|
NM_174878.3(CLRN1):c.411G>A (p.Leu137=)
|
rs1713844994
|
|
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3]
|
rs768093614
|
|
NM_174878.3(CLRN1):c.433+1102G>T
|
rs1553772414
|
|
NM_174878.3(CLRN1):c.434-3C>A
|
rs1712938572
|
|
NM_174878.3(CLRN1):c.43G>A (p.Val15Met)
|
rs1559996357
|
|
NM_174878.3(CLRN1):c.456_458del (p.Met152del)
|
rs1553770929
|
|
NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg)
|
rs764138183
|
|
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.-229C>T
|
rs151238022
|
|
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.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln)
|
rs2039690682
|
|
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.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
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.10465G>A (p.Ala3489Thr)
|
rs1553261464
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
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.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
|
|
|
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
|
|
|
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser)
|
rs2102762754
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
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.10740G>C (p.Lys3580Asn)
|
rs369507534
|
|
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met)
|
rs781539138
|
|
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
|
|
|
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
|
|
|
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
|
|
|
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu)
|
rs1238814587
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal)
|
rs1553259182
|
|
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.11203A>T (p.Thr3735Ser)
|
|
|
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.11228G>A (p.Ser3743Asn)
|
rs112898958
|
|
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr)
|
rs773373939
|
|
NM_206933.4(USH2A):c.11390-2del
|
rs760100733
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del)
|
rs1553257704
|
|
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
|
|
|
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.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
|
|
|
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val)
|
rs1659895227
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
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.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
|
|
|
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.12194C>T (p.Ser4065Phe)
|
|
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
|
|
NM_206933.4(USH2A):c.12265G>A (p.Glu4089Lys)
|
rs1658179050
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)
|
|
|
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)
|
rs757525434
|
|
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val)
|
rs1657992951
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr)
|
rs187897763
|
|
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser)
|
rs187897763
|
|
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala)
|
rs1363933493
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
NM_206933.4(USH2A):c.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.1259G>A (p.Gly420Asp)
|
|
|
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
|
|
|
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)
|
rs1553252489
|
|
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg)
|
rs1553252475
|
|
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.12910G>A (p.Glu4304Lys)
|
rs1657961774
|
|
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys)
|
rs1657960533
|
|
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
|
|
|
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
|
rs1657955894
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
|
rs2102665721
|
|
NM_206933.4(USH2A):c.1316T>C (p.Leu439Pro)
|
rs1558038097
|
|
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.13222G>T (p.Val4408Phe)
|
rs111033500
|
|
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe)
|
rs146240320
|
|
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp)
|
rs775075026
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg)
|
rs1403832675
|
|
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.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg)
|
rs754560573
|
|
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.1363A>G (p.Ser455Gly)
|
rs866877329
|
|
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup)
|
rs1553252347
|
|
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met)
|
rs1416382135
|
|
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs)
|
rs1553252328
|
|
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His)
|
rs1350039852
|
|
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
|
rs2037663922
|
|
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser)
|
rs574442439
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys)
|
rs764431065
|
|
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu)
|
rs1657805631
|
|
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
|
|
|
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.13979C>A (p.Pro4660Gln)
|
rs761367363
|
|
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp)
|
rs2102645078
|
|
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.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)
|
rs781195579
|
|
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
|
|
|
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)
|
rs746985615
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
|
|
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)
|
|
|
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.14683A>G (p.Ser4895Gly)
|
rs1469032409
|
|
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
|
|
|
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp)
|
rs1656647412
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
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.14970CTT[1] (p.Phe4993del)
|
rs1553249310
|
|
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala)
|
rs1553249303
|
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
|
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del)
|
rs1553248836
|
|
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.15172T>C (p.Phe5058Leu)
|
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
|
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
|
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
|
|
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.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.1588A>G (p.Thr530Ala)
|
rs2037620114
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
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.1724G>T (p.Cys575Phe)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu)
|
rs1427232199
|
|
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.1841-377A>G
|
|
|
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.2002G>A (p.Val668Met)
|
rs1404273822
|
|
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.2149T>A (p.Cys717Ser)
|
rs1304016981
|
|
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.2223T>G (p.Asp741Glu)
|
rs1487392425
|
|
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
|
rs1553320519
|
|
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)
|
rs1553320498
|
|
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del)
|
rs757082108
|
|
NM_206933.4(USH2A):c.2514A>G (p.Gln838=)
|
rs969374126
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)
|
|
|
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)
|
rs2036055708
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
|
rs776323626
|
|
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
|
rs754932972
|
|
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg)
|
rs762059922
|
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
|
|
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)
|
rs1553316429
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
|
|
|
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
|
rs150729680
|
|
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.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)
|
rs111033377
|
|
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del)
|
rs1461275915
|
|
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr)
|
rs1553314999
|
|
NM_206933.4(USH2A):c.3316+6T>C
|
rs373631038
|
|
NM_206933.4(USH2A):c.3317-14del
|
rs376363548
|
|
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.349C>T (p.His117Tyr)
|
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
|
rs2034940102
|
|
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=)
|
rs376090043
|
|
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
|
|
|
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.3809A>G (p.Asn1270Ser)
|
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
|
|
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.4024G>C (p.Val1342Leu)
|
rs778505422
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
|
|
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr)
|
rs2102460604
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
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.4251+3A>G
|
rs1181655123
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
NM_206933.4(USH2A):c.4252-36CTTT[7]
|
rs372388546
|
|
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.4328C>T (p.Thr1443Ile)
|
rs772742405
|
|
NM_206933.4(USH2A):c.432G>A (p.Leu144=)
|
rs760787084
|
|
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala)
|
rs886045951
|
|
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)
|
rs369357349
|
|
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
|
|
|
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
|
rs2034357761
|
|
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.4627+1091T>C
|
rs886045945
|
|
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+343A>G
|
rs2034344204
|
|
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.4714C>G (p.Leu1572Val)
|
rs111033333
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val)
|
rs2032219588
|
|
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.5162G>C (p.Gly1721Ala)
|
rs2032067781
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val)
|
rs1381827718
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
|
|
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu)
|
rs2102559662
|
|
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val)
|
rs768237382
|
|
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly)
|
rs1553299065
|
|
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu)
|
rs748792761
|
|
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
|
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5561_5572+7dup
|
rs1553299014
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
|
|
|
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.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5776+9G>T
|
rs1405078779
|
|
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.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
|
rs781022362
|
|
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
|
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu)
|
rs111033514
|
|
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.6253A>G (p.Ile2085Val)
|
|
|
NM_206933.4(USH2A):c.651+15A>G
|
rs765252898
|
|
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
|
rs1668203744
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr)
|
rs562492049
|
|
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=)
|
rs766287712
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
|
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
NM_206933.4(USH2A):c.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.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala)
|
rs1553274535
|
|
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
|
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
NM_206933.4(USH2A):c.7428C>A (p.Gly2476=)
|
rs150372183
|
|
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=)
|
rs150372183
|
|
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys)
|
rs754310768
|
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
|
|
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.7892A>G (p.Glu2631Gly)
|
rs1175968972
|
|
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met)
|
rs1338661803
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
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.8188C>T (p.Pro2730Ser)
|
rs768532694
|
|
NM_206933.4(USH2A):c.8224-6T>G
|
rs1664846600
|
|
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del)
|
rs1553272199
|
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
|
|
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe)
|
rs1413784848
|
|
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)
|
|
|
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
|
rs2102658782
|
|
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu)
|
rs756866344
|
|
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala)
|
rs886044303
|
|
NM_206933.4(USH2A):c.849-4A>G
|
rs765189933
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
|
|
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val)
|
rs1664810364
|
|
NM_206933.4(USH2A):c.8682-17A>G
|
rs1553271011
|
|
NM_206933.4(USH2A):c.8682-5T>C
|
rs1664495207
|
|
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile)
|
rs1664494411
|
|
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)
|
rs1553270997
|
|
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn)
|
rs1664492083
|
|
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)
|
rs374146074
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
|
|
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu)
|
rs780358747
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr)
|
rs1048801397
|
|
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.907C>T (p.Arg303Cys)
|
|
|
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del)
|
rs764038940
|
|
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.920G>T (p.Ser307Ile)
|
rs1553250805
|
|
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)
|
rs1359713084
|
|
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg)
|
rs373286445
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
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.950G>A (p.Arg317Gln)
|
rs760741238
|
|
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
|
rs1553265812
|
|
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met)
|
rs368240096
|
|
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del)
|
rs756735388
|
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
|
|
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)
|
rs1662225145
|
|
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)
|
rs137876918
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del)
|
rs773436260
|
|
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr)
|
rs2102770144
|
|
Single allele
|
|
|