NM_153676.4(USH1C):c.2656-260A>G
|
rs7108947
|
0.95611
|
NM_153676.4(USH1C):c.2547-183C>G
|
rs1859824
|
0.94357
|
NM_153676.4(USH1C):c.1531-64C>A
|
rs2237965
|
0.69980
|
NM_153676.4(USH1C):c.675-296A>G
|
rs4756898
|
0.69544
|
NM_153676.4(USH1C):c.1211-1375A>G
|
rs10766408
|
0.60626
|
NM_153676.4(USH1C):c.37-243A>G
|
rs2883581
|
0.58574
|
NM_153676.4(USH1C):c.-183T>G
|
rs1859819
|
0.57652
|
NM_153676.4(USH1C):c.1086-45A>G
|
rs2041031
|
0.57266
|
NM_153676.4(USH1C):c.1086-42G>A
|
rs2108332
|
0.57242
|
NM_153676.4(USH1C):c.1086-108A>G
|
rs2041032
|
0.56388
|
NM_153676.4(USH1C):c.37-45C>G
|
rs2240489
|
0.56124
|
NM_153676.4(USH1C):c.760-66T>C
|
rs4757539
|
0.56102
|
NM_153676.4(USH1C):c.1188A>G (p.Pro396=)
|
rs2240487
|
0.51629
|
NM_153676.4(USH1C):c.2281-113A>G
|
rs2072234
|
0.50335
|
NM_153676.4(USH1C):c.2547-159_2547-158del
|
rs10530940
|
0.50141
|
NM_153676.4(USH1C):c.1530+121T>A
|
rs733874
|
0.49505
|
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)
|
rs1064074
|
0.48497
|
NM_153676.4(USH1C):c.1413+52C>T
|
rs2190453
|
0.47939
|
NM_153676.4(USH1C):c.37-61A>G
|
rs878546
|
0.45653
|
NM_153676.4(USH1C):c.*211A>G
|
rs1055581
|
0.45185
|
NM_153676.4(USH1C):c.*46T>C
|
rs1055574
|
0.44023
|
NM_153676.4(USH1C):c.2656-115G>A
|
rs2072227
|
0.44015
|
NM_153676.4(USH1C):c.*186C>T
|
rs1055577
|
0.43773
|
NM_153676.4(USH1C):c.1085+21C>G
|
rs2240488
|
0.43168
|
NM_153676.4(USH1C):c.104+292G>T
|
rs878547
|
0.42636
|
NM_153676.4(USH1C):c.105-16C>T
|
rs2041027
|
0.41822
|
NM_153676.4(USH1C):c.36+214C>T
|
rs7125811
|
0.39120
|
NM_153676.4(USH1C):c.2656-47C>T
|
rs2072225
|
0.38117
|
NM_153676.4(USH1C):c.2491-165C>A
|
rs2072230
|
0.36314
|
NM_153676.4(USH1C):c.2547-11T>C
|
rs10832795
|
0.35821
|
NM_153676.4(USH1C):c.522-45del
|
rs5789990
|
0.31188
|
NM_153676.4(USH1C):c.580-27G>A
|
rs6486378
|
0.30297
|
NM_153676.4(USH1C):c.579+61G>A
|
rs72870320
|
0.23593
|
NM_153676.4(USH1C):c.2340C>T (p.Val780=)
|
rs10832796
|
0.21080
|
NM_153676.4(USH1C):c.759+272A>G
|
rs79878474
|
0.17289
|
NM_153676.4(USH1C):c.1260+83C>G
|
rs2237961
|
0.16872
|
NM_153676.4(USH1C):c.1414-34G>A
|
rs2237964
|
0.16591
|
NM_153676.4(USH1C):c.1211-935G>A
|
rs16770
|
0.16248
|
NC_000011.10:g.17544747T>C
|
rs12272861
|
0.13981
|
NM_153676.4(USH1C):c.1211-211C>T
|
rs2237960
|
0.12526
|
NM_153676.4(USH1C):c.2490+12G>C
|
rs2072232
|
0.12422
|
NM_153676.4(USH1C):c.2656-106T>C
|
rs2072226
|
0.10996
|
NM_153676.4(USH1C):c.2381-46G>A
|
rs2072233
|
0.10738
|
NM_153676.4(USH1C):c.759+294C>T
|
rs75165004
|
0.10641
|
NM_153676.4(USH1C):c.37-47G>T
|
rs2355022
|
0.09867
|
NM_153676.4(USH1C):c.2226+197G>A
|
rs12270644
|
0.09831
|
NM_153676.4(USH1C):c.521+56A>G
|
rs41282940
|
0.09720
|
NM_153676.4(USH1C):c.1086-12G>A
|
rs11024318
|
0.09048
|
NM_153676.4(USH1C):c.760-116G>A
|
rs41282938
|
0.08700
|
NM_153676.4(USH1C):c.675-96C>T
|
rs35539374
|
0.05539
|
NM_153676.4(USH1C):c.2226+12C>T
|
rs17703528
|
0.05274
|
NM_153676.4(USH1C):c.1020-245C>G
|
rs16934376
|
0.05145
|
NM_153676.4(USH1C):c.1019+222C>G
|
rs4757538
|
0.04795
|
NM_153676.4(USH1C):c.2656-159del
|
rs113336938
|
0.04751
|
NC_000011.10:g.17544434G>A
|
rs41274346
|
0.04577
|
NM_153676.4(USH1C):c.2184+254C>G
|
rs7931529
|
0.04370
|
NM_153676.4(USH1C):c.2184+229C>T
|
rs11024312
|
0.04288
|
NM_153676.4(USH1C):c.2655+264T>C
|
rs59196307
|
0.03727
|
NM_153676.4(USH1C):c.1211-1418G>A
|
rs12271449
|
0.03539
|
NM_153676.4(USH1C):c.1770C>T (p.Ala590=)
|
rs17776775
|
0.03494
|
NM_153676.4(USH1C):c.1019+227C>T
|
rs72870313
|
0.03435
|
NM_153676.4(USH1C):c.580-145A>G
|
rs115427218
|
0.02639
|
NM_153676.4(USH1C):c.580-148C>T
|
rs116336355
|
0.02636
|
NM_153676.4(USH1C):c.675-191T>G
|
rs79928978
|
0.02632
|
NM_153676.4(USH1C):c.651A>G (p.Val217=)
|
rs75977878
|
0.02584
|
NM_153676.4(USH1C):c.674+190A>G
|
rs112551413
|
0.02576
|
NM_153676.4(USH1C):c.1210+158G>C
|
rs57367368
|
0.02573
|
NM_153676.4(USH1C):c.675-258G>A
|
rs191375575
|
0.02526
|
NM_153676.4(USH1C):c.675-260T>G
|
rs530903680
|
0.02526
|
NM_153676.4(USH1C):c.2655+180C>A
|
rs12284437
|
0.02469
|
NM_153676.4(USH1C):c.579+92C>T
|
rs112888183
|
0.02419
|
NM_153676.4(USH1C):c.579+114G>A
|
rs116184533
|
0.02415
|
NM_153676.4(USH1C):c.579+116T>C
|
rs115678883
|
0.02415
|
NM_153676.4(USH1C):c.1211-1249C>T
|
rs116225056
|
0.02335
|
NM_153676.4(USH1C):c.294C>T (p.Leu98=)
|
rs34055234
|
0.02295
|
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu)
|
rs139996942
|
0.02272
|
NM_153676.4(USH1C):c.2280+29C>T
|
rs114971046
|
0.02272
|
NM_153676.4(USH1C):c.759+144A>G
|
rs143040620
|
0.01864
|
NM_153676.4(USH1C):c.876+33G>A
|
rs114884519
|
0.01764
|
NM_153676.4(USH1C):c.-60T>C
|
rs371444878
|
0.01736
|
NM_153676.4(USH1C):c.1872G>A (p.Ser624=)
|
rs80124409
|
0.01688
|
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser)
|
rs115931035
|
0.01559
|
NM_153676.4(USH1C):c.2227-118T>G
|
rs111458343
|
0.01506
|
NM_153676.4(USH1C):c.2014-305G>C
|
rs61570226
|
0.01491
|
NM_153676.4(USH1C):c.1085+173G>A
|
rs57959744
|
0.01416
|
NM_153676.4(USH1C):c.1530+273C>G
|
rs7931241
|
0.01412
|
NM_153676.4(USH1C):c.2184+21T>G
|
rs75810555
|
0.01371
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser)
|
rs34077456
|
0.01319
|
NM_153676.4(USH1C):c.759+116G>A
|
rs78163509
|
0.01248
|
NM_153676.4(USH1C):c.819+10G>C
|
rs41282936
|
0.01105
|
NM_153676.4(USH1C):c.1019+173G>A
|
rs149654396
|
0.01104
|
NM_153676.4(USH1C):c.1211-1256G>C
|
rs115059650
|
0.01010
|
NM_153676.4(USH1C):c.1260+282G>A
|
rs61735264
|
0.01006
|
NM_153676.4(USH1C):c.387+17C>T
|
rs78718533
|
0.00969
|
NM_153676.4(USH1C):c.820-59C>T
|
rs148317033
|
0.00812
|
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)
|
rs34581703
|
0.00789
|
NM_153676.4(USH1C):c.1019+52G>A
|
rs147022226
|
0.00739
|
NM_153676.4(USH1C):c.2547-8A>G
|
rs78509055
|
0.00720
|
NM_153676.4(USH1C):c.2184+47G>A
|
rs11827813
|
0.00716
|
NM_153676.4(USH1C):c.2490+174G>A
|
rs78299106
|
0.00680
|
NM_153676.4(USH1C):c.388-312G>T
|
rs58293804
|
0.00674
|
NC_000011.10:g.17544758T>C
|
rs530224042
|
0.00611
|
NM_153676.4(USH1C):c.105-148C>T
|
rs147136961
|
0.00595
|
NM_153676.4(USH1C):c.674+155G>T
|
rs145908619
|
0.00591
|
NM_005709.4(USH1C):c.1266G>A (p.Thr422=)
|
rs35188020
|
0.00558
|
NM_153676.4(USH1C):c.101A>G (p.His34Arg)
|
rs75157409
|
0.00524
|
NM_153676.4(USH1C):c.*42C>T
|
rs16934270
|
0.00520
|
NM_153676.4(USH1C):c.388-255C>T
|
rs75116675
|
0.00516
|
NM_153676.4(USH1C):c.37-150C>A
|
rs113289329
|
0.00487
|
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr)
|
rs116996553
|
0.00479
|
NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg)
|
rs142751309
|
0.00442
|
NM_153676.4(USH1C):c.496+66G>T
|
rs45552041
|
0.00406
|
NM_153676.4(USH1C):c.1019+51C>T
|
rs78724677
|
0.00395
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709
|
0.00336
|
NM_153676.4(USH1C):c.759+20C>T
|
rs200769484
|
0.00315
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942
|
0.00290
|
NM_153676.4(USH1C):c.1020-42C>T
|
rs146119431
|
0.00239
|
NM_153676.4(USH1C):c.2491-41C>T
|
rs200004245
|
0.00236
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_153676.4(USH1C):c.1085+26C>T
|
rs188049377
|
0.00194
|
NM_153676.4(USH1C):c.820-51G>A
|
rs189575414
|
0.00190
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
NM_153676.4(USH1C):c.37-48G>T
|
rs375816874
|
0.00172
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
NM_153676.4(USH1C):c.2491-16C>T
|
rs200919289
|
0.00159
|
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)
|
rs149510892
|
0.00134
|
NM_153676.4(USH1C):c.37-41T>G
|
rs566278729
|
0.00117
|
NM_153676.4(USH1C):c.2184+12C>T
|
rs138547759
|
0.00112
|
NM_153676.4(USH1C):c.114C>T (p.Asp38=)
|
rs137962152
|
0.00081
|
NM_153676.4(USH1C):c.522-44G>A
|
rs545929961
|
0.00081
|
NM_153676.4(USH1C):c.2184+10T>C
|
rs200889109
|
0.00080
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
NM_153676.4(USH1C):c.1632C>T (p.Asp544=)
|
rs142545736
|
0.00074
|
NM_153676.4(USH1C):c.1740T>C (p.Pro580=)
|
rs200085788
|
0.00070
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543
|
0.00064
|
NM_153676.4(USH1C):c.1086-13G>T
|
rs200490320
|
0.00061
|
NM_153676.4(USH1C):c.580-43C>T
|
rs113862877
|
0.00061
|
NM_153676.4(USH1C):c.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
NM_153676.4(USH1C):c.2185-34C>T
|
rs202025942
|
0.00048
|
NM_153676.4(USH1C):c.2134-11T>C
|
rs200386499
|
0.00047
|
NM_153676.4(USH1C):c.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413
|
0.00046
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
NM_153676.4(USH1C):c.2656-20C>T
|
rs201163249
|
0.00037
|
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys)
|
rs143160805
|
0.00030
|
NM_153676.4(USH1C):c.2487C>T (p.Gly829=)
|
rs142801489
|
0.00029
|
NM_153676.4(USH1C):c.1210+16C>T
|
rs185991713
|
0.00024
|
NM_153676.4(USH1C):c.275G>A (p.Arg92His)
|
rs147954324
|
0.00024
|
NM_153676.4(USH1C):c.820-26G>A
|
rs185115478
|
0.00023
|
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln)
|
rs187147906
|
0.00022
|
NM_153676.4(USH1C):c.1386G>A (p.Gln462=)
|
rs141564204
|
0.00021
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
NM_153676.4(USH1C):c.1449G>A (p.Ser483=)
|
rs142669563
|
0.00019
|
NM_153676.4(USH1C):c.1458T>C (p.Ile486=)
|
rs147743437
|
0.00019
|
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)
|
rs138123405
|
0.00019
|
NM_153676.4(USH1C):c.2616C>T (p.Ala872=)
|
rs141591891
|
0.00019
|
NM_153676.4(USH1C):c.1591C>T (p.Arg531Cys)
|
rs140528164
|
0.00018
|
NM_153676.4(USH1C):c.186T>C (p.Ile62=)
|
rs200239508
|
0.00018
|
NM_153676.4(USH1C):c.1399C>T (p.Arg467Trp)
|
rs138996642
|
0.00017
|
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)
|
rs143803480
|
0.00016
|
NM_153676.4(USH1C):c.2280+6del
|
rs776356060
|
0.00016
|
NM_153676.4(USH1C):c.1116G>A (p.Lys372=)
|
rs367623689
|
0.00014
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
NM_153676.4(USH1C):c.248+16C>A
|
rs771210531
|
0.00014
|
NM_153676.4(USH1C):c.2617G>A (p.Val873Met)
|
rs201533059
|
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_153676.4(USH1C):c.965G>A (p.Arg322Gln)
|
rs140424216
|
0.00012
|
NM_153676.4(USH1C):c.1691T>C (p.Met564Thr)
|
rs376783946
|
0.00011
|
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)
|
rs142652588
|
0.00011
|
NM_153676.4(USH1C):c.2538C>T (p.Asp846=)
|
rs143860238
|
0.00011
|
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
|
rs558663132
|
0.00011
|
NM_153676.4(USH1C):c.1362G>A (p.Glu454=)
|
rs141729602
|
0.00010
|
NM_153676.4(USH1C):c.1414-2_1414-1insCTG
|
rs769675063
|
0.00010
|
NM_153676.4(USH1C):c.1472A>G (p.Glu491Gly)
|
rs752030009
|
0.00010
|
NM_153676.4(USH1C):c.579+31G>C
|
rs143734210
|
0.00010
|
NM_153676.4(USH1C):c.820-9T>C
|
rs370623882
|
0.00010
|
NM_153676.4(USH1C):c.1085+11C>T
|
rs767995800
|
0.00009
|
NM_153676.4(USH1C):c.1199G>A (p.Arg400His)
|
rs750721690
|
0.00009
|
NM_153676.4(USH1C):c.1880A>G (p.Glu627Gly)
|
rs199812342
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
NM_153676.4(USH1C):c.2566G>A (p.Val856Ile)
|
rs201308481
|
0.00009
|
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)
|
rs371856107
|
0.00009
|
NM_005709.4(USH1C):c.1227A>G (p.Glu409=)
|
rs754264953
|
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_153676.4(USH1C):c.1592G>A (p.Arg531His)
|
rs368244741
|
0.00008
|
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)
|
rs767767573
|
0.00008
|
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln)
|
rs397517883
|
0.00008
|
NM_153676.4(USH1C):c.2004C>A (p.Pro668=)
|
rs201586291
|
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.2591G>A (p.Arg864Gln)
|
rs374696855
|
0.00007
|
NM_153676.4(USH1C):c.2635C>T (p.Leu879Phe)
|
rs368030248
|
0.00007
|
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp)
|
rs368903400
|
0.00007
|
NM_153676.4(USH1C):c.1020-19A>G
|
rs760780173
|
0.00006
|
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln)
|
rs895318911
|
0.00006
|
NM_153676.4(USH1C):c.1143G>A (p.Lys381=)
|
rs745649293
|
0.00006
|
NM_153676.4(USH1C):c.1211-1188G>A
|
rs199972595
|
0.00006
|
NM_153676.4(USH1C):c.1353A>G (p.Lys451=)
|
rs756818011
|
0.00006
|
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro)
|
rs367952604
|
0.00006
|
NM_153676.4(USH1C):c.2013+5T>C
|
rs371038786
|
0.00006
|
NM_153676.4(USH1C):c.2112A>G (p.Pro704=)
|
rs199532754
|
0.00006
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
NM_153676.4(USH1C):c.2373G>A (p.Glu791=)
|
rs746011575
|
0.00006
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00006
|
NM_153676.4(USH1C):c.2609G>A (p.Arg870His)
|
rs763367346
|
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.74A>G (p.Tyr25Cys)
|
rs536191185
|
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_153676.4(USH1C):c.-31G>T
|
rs374794188
|
0.00005
|
NM_153676.4(USH1C):c.105-14C>T
|
rs377614842
|
0.00005
|
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn)
|
rs727503712
|
0.00005
|
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)
|
rs201104489
|
0.00005
|
NM_153676.4(USH1C):c.2094C>A (p.Pro698=)
|
rs776463595
|
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.255G>A (p.Leu85=)
|
rs769870305
|
0.00005
|
NM_153676.4(USH1C):c.378C>T (p.Val126=)
|
rs369375384
|
0.00005
|
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys)
|
rs141771249
|
0.00005
|
NM_153676.4(USH1C):c.798C>T (p.Phe266=)
|
rs762028402
|
0.00005
|
NM_153676.4(USH1C):c.1085+19C>T
|
rs368988911
|
0.00004
|
NM_153676.4(USH1C):c.1211-1201C>T
|
rs776777098
|
0.00004
|
NM_153676.4(USH1C):c.1236T>C (p.Asp412=)
|
rs199704356
|
0.00004
|
NM_153676.4(USH1C):c.1596C>T (p.Phe532=)
|
rs769982878
|
0.00004
|
NM_153676.4(USH1C):c.1602C>T (p.Gly534=)
|
rs201945610
|
0.00004
|
NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr)
|
rs369255684
|
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.2514C>T (p.Ala838=)
|
rs1467666832
|
0.00004
|
NM_153676.4(USH1C):c.396C>T (p.Asp132=)
|
rs150522757
|
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.580-16T>G
|
rs563014838
|
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_153676.4(USH1C):c.906G>A (p.Glu302=)
|
rs779617355
|
0.00004
|
NM_153676.4(USH1C):c.1210+17G>A
|
rs760095021
|
0.00003
|
NM_153676.4(USH1C):c.121G>A (p.Val41Met)
|
rs780439529
|
0.00003
|
NM_153676.4(USH1C):c.1512T>C (p.Ala504=)
|
rs886043309
|
0.00003
|
NM_153676.4(USH1C):c.1600G>A (p.Gly534Ser)
|
rs375568824
|
0.00003
|
NM_153676.4(USH1C):c.162C>T (p.Ser54=)
|
rs767509662
|
0.00003
|
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys)
|
rs117171411
|
0.00003
|
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu)
|
rs747675437
|
0.00003
|
NM_153676.4(USH1C):c.191C>T (p.Pro64Leu)
|
rs758959670
|
0.00003
|
NM_153676.4(USH1C):c.1994G>A (p.Ser665Asn)
|
rs150854703
|
0.00003
|
NM_153676.4(USH1C):c.2227-19del
|
rs769331847
|
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.2547-46G>A
|
rs754728458
|
0.00003
|
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala)
|
rs200779709
|
0.00003
|
NM_153676.4(USH1C):c.480G>A (p.Val160=)
|
rs201812681
|
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.675-4G>A
|
rs550964012
|
0.00003
|
NM_153676.4(USH1C):c.675-5C>T
|
rs921075395
|
0.00003
|
NM_153676.4(USH1C):c.759+17C>T
|
rs373148928
|
0.00003
|
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln)
|
rs397517884
|
0.00003
|
NM_005709.4(USH1C):c.1228C>T (p.Pro410Ser)
|
rs763837481
|
0.00002
|
NM_153676.4(USH1C):c.1015C>T (p.Arg339Trp)
|
rs200837155
|
0.00002
|
NM_153676.4(USH1C):c.1085+20G>A
|
rs763398035
|
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.1419T>C (p.Ser473=)
|
rs772889885
|
0.00002
|
NM_153676.4(USH1C):c.1495G>A (p.Glu499Lys)
|
rs372038696
|
0.00002
|
NM_153676.4(USH1C):c.204G>T (p.Leu68=)
|
rs140945339
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.2245A>G (p.Met749Val)
|
rs767662810
|
0.00002
|
NM_153676.4(USH1C):c.2253G>A (p.Lys751=)
|
rs751998841
|
0.00002
|
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys)
|
rs771504780
|
0.00002
|
NM_153676.4(USH1C):c.2381-10C>T
|
rs765925104
|
0.00002
|
NM_153676.4(USH1C):c.2418C>T (p.Asn806=)
|
rs397517876
|
0.00002
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
0.00002
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539
|
0.00002
|
NM_153676.4(USH1C):c.276T>C (p.Arg92=)
|
rs367957451
|
0.00002
|
NM_153676.4(USH1C):c.310G>C (p.Gly104Arg)
|
rs1387867750
|
0.00002
|
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)
|
rs768207716
|
0.00002
|
NM_153676.4(USH1C):c.497-4G>A
|
rs397517881
|
0.00002
|
NM_153676.4(USH1C):c.583G>A (p.Val195Met)
|
rs760703501
|
0.00002
|
NM_153676.4(USH1C):c.614G>A (p.Arg205Gln)
|
rs777321803
|
0.00002
|
NM_153676.4(USH1C):c.759+9C>T
|
rs577279187
|
0.00002
|
NM_153676.4(USH1C):c.760-4C>T
|
rs374167444
|
0.00002
|
NM_153676.4(USH1C):c.778G>A (p.Glu260Lys)
|
rs369461618
|
0.00002
|
NM_153676.4(USH1C):c.780A>G (p.Glu260=)
|
rs770579089
|
0.00002
|
NM_153676.4(USH1C):c.819+13G>C
|
rs553919319
|
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_005709.4(USH1C):c.1211-3_1232del
|
rs1246699436
|
0.00001
|
NM_005709.4(USH1C):c.1236C>T (p.Leu412=)
|
rs755834769
|
0.00001
|
NM_005709.4(USH1C):c.1242C>T (p.Pro414=)
|
rs759001163
|
0.00001
|
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)
|
rs977658619
|
0.00001
|
NM_153676.4(USH1C):c.*1G>C
|
rs553257705
|
0.00001
|
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln)
|
rs765571023
|
0.00001
|
NM_153676.4(USH1C):c.1019+16C>T
|
rs920565524
|
0.00001
|
NM_153676.4(USH1C):c.1019+20G>A
|
rs1328737015
|
0.00001
|
NM_153676.4(USH1C):c.1020-7G>A
|
rs1554960567
|
0.00001
|
NM_153676.4(USH1C):c.102C>T (p.His34=)
|
rs1348962484
|
0.00001
|
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)
|
rs1278026061
|
0.00001
|
NM_153676.4(USH1C):c.1038C>T (p.Ala346=)
|
rs1025053737
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691
|
0.00001
|
NM_153676.4(USH1C):c.104+7G>A
|
rs1380831735
|
0.00001
|
NM_153676.4(USH1C):c.105G>C (p.Gln35His)
|
rs369151395
|
0.00001
|
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
|
rs746789590
|
0.00001
|
NM_153676.4(USH1C):c.1085+12G>A
|
rs532357891
|
0.00001
|
NM_153676.4(USH1C):c.1085A>G (p.Gln362Arg)
|
rs970072244
|
0.00001
|
NM_153676.4(USH1C):c.1086-18A>G
|
rs1021204065
|
0.00001
|
NM_153676.4(USH1C):c.1101A>G (p.Glu367=)
|
rs764975771
|
0.00001
|
NM_153676.4(USH1C):c.1168A>G (p.Ile390Val)
|
rs374410443
|
0.00001
|
NM_153676.4(USH1C):c.1206A>G (p.Pro402=)
|
rs757715642
|
0.00001
|
NM_153676.4(USH1C):c.120C>T (p.Ala40=)
|
rs752165873
|
0.00001
|
NM_153676.4(USH1C):c.1211-1098G>A
|
rs780714835
|
0.00001
|
NM_153676.4(USH1C):c.1211-1104G>A
|
rs756459913
|
0.00001
|
NM_153676.4(USH1C):c.1211-1190_1211-1189insC
|
rs1850209084
|
0.00001
|
NM_153676.4(USH1C):c.1211-1196T>C
|
rs768924209
|
0.00001
|
NM_153676.4(USH1C):c.1211-1202C>T
|
rs1465971787
|
0.00001
|
NM_153676.4(USH1C):c.126C>T (p.Leu42=)
|
rs750823343
|
0.00001
|
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)
|
rs1406224812
|
0.00001
|
NM_153676.4(USH1C):c.1349A>G (p.Tyr450Cys)
|
rs1591983392
|
0.00001
|
NM_153676.4(USH1C):c.1368G>A (p.Met456Ile)
|
rs755916304
|
0.00001
|
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser)
|
rs775363189
|
0.00001
|
NM_153676.4(USH1C):c.1547C>T (p.Pro516Leu)
|
rs201870537
|
0.00001
|
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)
|
rs778703128
|
0.00001
|
NM_153676.4(USH1C):c.1570C>T (p.Pro524Ser)
|
rs576189967
|
0.00001
|
NM_153676.4(USH1C):c.192G>A (p.Pro64=)
|
rs1040470628
|
0.00001
|
NM_153676.4(USH1C):c.1942G>A (p.Glu648Lys)
|
rs368729447
|
0.00001
|
NM_153676.4(USH1C):c.1989A>G (p.Glu663=)
|
rs1388399222
|
0.00001
|
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu)
|
rs1157049229
|
0.00001
|
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)
|
rs369369849
|
0.00001
|
NM_153676.4(USH1C):c.2138A>G (p.Gln713Arg)
|
rs1554955501
|
0.00001
|
NM_153676.4(USH1C):c.2155A>G (p.Met719Val)
|
rs764059609
|
0.00001
|
NM_153676.4(USH1C):c.2185-16C>T
|
rs751354155
|
0.00001
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
NM_153676.4(USH1C):c.2199T>C (p.Tyr733=)
|
rs772773409
|
0.00001
|
NM_153676.4(USH1C):c.2227-10T>C
|
rs1161540712
|
0.00001
|
NM_153676.4(USH1C):c.2227-13T>C
|
rs566698194
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2227-8C>T
|
rs758112290
|
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.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.2360G>C (p.Arg787Pro)
|
rs747189986
|
0.00001
|
NM_153676.4(USH1C):c.2380+7G>A
|
rs756437407
|
0.00001
|
NM_153676.4(USH1C):c.2381-19C>T
|
rs780970002
|
0.00001
|
NM_153676.4(USH1C):c.2381-8G>C
|
rs750363411
|
0.00001
|
NM_153676.4(USH1C):c.2391G>A (p.Val797=)
|
rs375973884
|
0.00001
|
NM_153676.4(USH1C):c.2400C>T (p.Asp800=)
|
rs139787873
|
0.00001
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
0.00001
|
NM_153676.4(USH1C):c.2436C>T (p.Asp812=)
|
rs779914854
|
0.00001
|
NM_153676.4(USH1C):c.243C>G (p.Arg81=)
|
rs1391793246
|
0.00001
|
NM_153676.4(USH1C):c.2442C>G (p.Thr814=)
|
rs749937177
|
0.00001
|
NM_153676.4(USH1C):c.248+6G>A
|
rs368224880
|
0.00001
|
NM_153676.4(USH1C):c.2490+18C>G
|
rs779818682
|
0.00001
|
NM_153676.4(USH1C):c.2491-5C>T
|
rs778639497
|
0.00001
|
NM_153676.4(USH1C):c.2520C>T (p.Cys840=)
|
rs761957144
|
0.00001
|
NM_153676.4(USH1C):c.2541T>C (p.Asp847=)
|
rs1849262183
|
0.00001
|
NM_153676.4(USH1C):c.2544G>A (p.Glu848=)
|
rs1849261947
|
0.00001
|
NM_153676.4(USH1C):c.2547-1G>T
|
rs571304936
|
0.00001
|
NM_153676.4(USH1C):c.2568A>G (p.Val856=)
|
rs1385487954
|
0.00001
|
NM_153676.4(USH1C):c.2585C>T (p.Pro862Leu)
|
rs749460267
|
0.00001
|
NM_153676.4(USH1C):c.2655G>A (p.Thr885=)
|
rs770103013
|
0.00001
|
NM_153676.4(USH1C):c.2656-3C>T
|
rs1219323712
|
0.00001
|
NM_153676.4(USH1C):c.2667G>A (p.Leu889=)
|
rs1849167922
|
0.00001
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.36+19C>T
|
rs757580037
|
0.00001
|
NM_153676.4(USH1C):c.375C>T (p.Ser125=)
|
rs1007641421
|
0.00001
|
NM_153676.4(USH1C):c.375del (p.Ser125fs)
|
rs756032457
|
0.00001
|
NM_153676.4(USH1C):c.387+10C>T
|
rs779778068
|
0.00001
|
NM_153676.4(USH1C):c.402C>T (p.Ile134=)
|
rs750516784
|
0.00001
|
NM_153676.4(USH1C):c.439C>T (p.His147Tyr)
|
rs770952404
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys)
|
rs747960087
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.481T>C (p.Ser161Pro)
|
rs1260933169
|
0.00001
|
NM_153676.4(USH1C):c.497-10T>C
|
rs1565058032
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_153676.4(USH1C):c.497-3C>A
|
rs958295779
|
0.00001
|
NM_153676.4(USH1C):c.497-5C>T
|
rs749319911
|
0.00001
|
NM_153676.4(USH1C):c.49A>G (p.Ile17Val)
|
rs1179635643
|
0.00001
|
NM_153676.4(USH1C):c.521+10C>A
|
rs777390334
|
0.00001
|
NM_153676.4(USH1C):c.538C>G (p.Leu180Val)
|
rs747331051
|
0.00001
|
NM_153676.4(USH1C):c.580-6T>C
|
rs762184152
|
0.00001
|
NM_153676.4(USH1C):c.582C>T (p.Gly194=)
|
rs397517882
|
0.00001
|
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter)
|
rs1290295453
|
0.00001
|
NM_153676.4(USH1C):c.600C>T (p.Gly200=)
|
rs748975874
|
0.00001
|
NM_153676.4(USH1C):c.628A>T (p.Lys210Ter)
|
rs755601799
|
0.00001
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934
|
0.00001
|
NM_153676.4(USH1C):c.652G>A (p.Gly218Ser)
|
rs1850672659
|
0.00001
|
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter)
|
rs766327614
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.675-19C>T
|
rs1386198795
|
0.00001
|
NM_153676.4(USH1C):c.675-7C>T
|
rs1253714290
|
0.00001
|
NM_153676.4(USH1C):c.685G>A (p.Gly229Ser)
|
rs759639970
|
0.00001
|
NM_153676.4(USH1C):c.727C>T (p.Pro243Ser)
|
rs1249188126
|
0.00001
|
NM_153676.4(USH1C):c.73T>C (p.Tyr25His)
|
rs751983859
|
0.00001
|
NM_153676.4(USH1C):c.752G>A (p.Gly251Glu)
|
rs773514992
|
0.00001
|
NM_153676.4(USH1C):c.759+1G>A
|
rs968918465
|
0.00001
|
NM_153676.4(USH1C):c.777C>T (p.Val259=)
|
rs745828958
|
0.00001
|
NM_153676.4(USH1C):c.786T>C (p.Asn262=)
|
rs1468519613
|
0.00001
|
NM_153676.4(USH1C):c.789C>G (p.Gly263=)
|
rs376197674
|
0.00001
|
NM_153676.4(USH1C):c.819+12G>A
|
rs759105085
|
0.00001
|
NM_153676.4(USH1C):c.838A>G (p.Ser280Gly)
|
rs775519842
|
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.876+20G>A
|
rs559288917
|
0.00001
|
NM_153676.4(USH1C):c.877-18C>A
|
rs776331227
|
0.00001
|
NM_153676.4(USH1C):c.892A>C (p.Met298Leu)
|
rs999871420
|
0.00001
|
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp)
|
rs749821587
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
|
rs763948115
|
0.00001
|
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys)
|
rs760448018
|
0.00001
|
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)
|
rs776511246
|
0.00001
|
NM_153676.4(USH1C):c.952C>A (p.Leu318Ile)
|
rs1392006029
|
0.00001
|
NM_153676.4(USH1C):c.960G>C (p.Gln320His)
|
rs41282934
|
0.00001
|
NM_153676.4(USH1C):c.966G>C (p.Arg322=)
|
rs748749433
|
0.00001
|
NM_153676.4(USH1C):c.966G>T (p.Arg322=)
|
rs748749433
|
0.00001
|
NM_153676.4(USH1C):c.972G>A (p.Ala324=)
|
rs752517458
|
0.00001
|
NC_000011.10:g.17526347dup
|
rs1554961872
|
|
NC_000011.10:g.17544513C>G
|
rs139790247
|
|
NC_000011.10:g.17544700_17544703del
|
rs150190506
|
|
NC_000011.10:g.17544756_17544758dup
|
rs67346792
|
|
NC_000011.10:g.17544757_17544758dup
|
rs67346792
|
|
NC_000011.10:g.17544758dup
|
rs67346792
|
|
NC_000011.9:g.(?_17519689)_(17523547_?)del
|
|
|
NC_000011.9:g.(?_17522578)_(17523547_?)del
|
|
|
NC_000011.9:g.(?_17522588)_(17527506_?)del
|
|
|
NC_000011.9:g.(?_17526184)_(17548597_?)del
|
|
|
NC_000011.9:g.(?_17548750)_(17565854_?)del
|
|
|
NC_000011.9:g.(?_17552681)_(17552859_?)del
|
|
|
NC_000011.9:g.(?_17552691)_(17565973_?)del
|
|
|
NM_005709.4(USH1C):c.1215T>C (p.Asp405=)
|
|
|
NM_005709.4(USH1C):c.1217A>T (p.Gln406Leu)
|
rs758807447
|
|
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)
|
rs143923730
|
|
NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala)
|
rs143923730
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005709.4(USH1C):c.1225G>T (p.Glu409Ter)
|
rs757625535
|
|
NM_005709.4(USH1C):c.1233G>A (p.Glu411=)
|
rs2133853195
|
|
NM_005709.4(USH1C):c.1236C>G (p.Leu412=)
|
|
|
NM_005709.4(USH1C):c.1237G>A (p.Glu413Lys)
|
|
|
NM_005709.4(USH1C):c.1241C>A (p.Pro414His)
|
|
|
NM_005709.4(USH1C):c.1241_1242dup (p.Ala415fs)
|
rs2133853125
|
|
NM_005709.4(USH1C):c.1242C>G (p.Pro414=)
|
rs759001163
|
|
NM_005709.4(USH1C):c.1244C>T (p.Ala415Val)
|
rs1460150108
|
|
NM_005709.4(USH1C):c.1245A>C (p.Ala415=)
|
rs766318556
|
|
NM_005709.4(USH1C):c.1249G>T (p.Asp417Tyr)
|
|
|
NM_005709.4(USH1C):c.1262G>A (p.Gly421Asp)
|
rs2133852863
|
|
NM_005709.4(USH1C):c.1270G>T (p.Glu424Ter)
|
rs1244378437
|
|
NM_005709.4(USH1C):c.1275G>A (p.Gln425=)
|
|
|
NM_005709.4(USH1C):c.1277del (p.Gly426fs)
|
|
|
NM_005709.4(USH1C):c.1282C>G (p.Gln428Glu)
|
|
|
NM_005709.4(USH1C):c.1282C>T (p.Gln428Ter)
|
|
|
NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg)
|
rs746527367
|
|
NM_153676.4(USH1C):c.1000C>G (p.Gln334Glu)
|
|
|
NM_153676.4(USH1C):c.1002G>A (p.Gln334=)
|
|
|
NM_153676.4(USH1C):c.1007A>G (p.Glu336Gly)
|
|
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
NM_153676.4(USH1C):c.1019+10G>A
|
rs2133875969
|
|
NM_153676.4(USH1C):c.1019+11C>T
|
|
|
NM_153676.4(USH1C):c.1019+14G>T
|
|
|
NM_153676.4(USH1C):c.1019+17C>G
|
|
|
NM_153676.4(USH1C):c.1019+19G>A
|
|
|
NM_153676.4(USH1C):c.1019+19G>C
|
|
|
NM_153676.4(USH1C):c.1019+20G>C
|
|
|
NM_153676.4(USH1C):c.1019+8C>T
|
rs764651408
|
|
NM_153676.4(USH1C):c.1020-16T>C
|
|
|
NM_153676.4(USH1C):c.1020-20A>G
|
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.1020-7G>T
|
|
|
NM_153676.4(USH1C):c.1020-9G>A
|
|
|
NM_153676.4(USH1C):c.1037C>A (p.Ala346Asp)
|
rs774753537
|
|
NM_153676.4(USH1C):c.1039C>G (p.Gln347Glu)
|
rs762551629
|
|
NM_153676.4(USH1C):c.103C>A (p.Gln35Lys)
|
rs1477925627
|
|
NM_153676.4(USH1C):c.104+10C>T
|
rs2133927942
|
|
NM_153676.4(USH1C):c.104+12G>A
|
|
|
NM_153676.4(USH1C):c.104+13G>A
|
|
|
NM_153676.4(USH1C):c.104+17C>A
|
rs1041508067
|
|
NM_153676.4(USH1C):c.104+19G>A
|
|
|
NM_153676.4(USH1C):c.104+295T>A
|
rs142593423
|
|
NM_153676.4(USH1C):c.104+3A>T
|
|
|
NM_153676.4(USH1C):c.104+5G>C
|
rs2133927984
|
|
NM_153676.4(USH1C):c.104+7G>C
|
|
|
NM_153676.4(USH1C):c.1042A>G (p.Lys348Glu)
|
|
|
NM_153676.4(USH1C):c.105-11C>T
|
|
|
NM_153676.4(USH1C):c.105-13G>A
|
|
|
NM_153676.4(USH1C):c.105-1G>T
|
rs2133920848
|
|
NM_153676.4(USH1C):c.105-6C>T
|
|
|
NM_153676.4(USH1C):c.105-8C>A
|
|
|
NM_153676.4(USH1C):c.1050del (p.Glu351fs)
|
rs2133870386
|
|
NM_153676.4(USH1C):c.1051G>C (p.Glu351Gln)
|
rs2133870365
|
|
NM_153676.4(USH1C):c.1053G>A (p.Glu351=)
|
|
|
NM_153676.4(USH1C):c.105G>T (p.Gln35His)
|
|
|
NM_153676.4(USH1C):c.1066T>C (p.Tyr356His)
|
|
|
NM_153676.4(USH1C):c.1068C>G (p.Tyr356Ter)
|
|
|
NM_153676.4(USH1C):c.1069C>A (p.Arg357=)
|
rs140934960
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960
|
|
NM_153676.4(USH1C):c.1074G>A (p.Lys358=)
|
rs2133870221
|
|
NM_153676.4(USH1C):c.1077G>A (p.Glu359=)
|
|
|
NM_153676.4(USH1C):c.1085+11C>G
|
|
|
NM_153676.4(USH1C):c.1085+13G>A
|
|
|
NM_153676.4(USH1C):c.1085+19C>G
|
|
|
NM_153676.4(USH1C):c.1085+1G>C
|
rs2133870164
|
|
NM_153676.4(USH1C):c.1085+20_1085+21delinsAG
|
|
|
NM_153676.4(USH1C):c.1085+5G>C
|
rs1850405247
|
|
NM_153676.4(USH1C):c.1085+7A>G
|
rs1025205332
|
|
NM_153676.4(USH1C):c.1086-10C>T
|
rs2133868688
|
|
NM_153676.4(USH1C):c.1086-13G>A
|
|
|
NM_153676.4(USH1C):c.1086-15G>A
|
rs537610769
|
|
NM_153676.4(USH1C):c.1086-15G>C
|
|
|
NM_153676.4(USH1C):c.1086G>A (p.Gln362=)
|
|
|
NM_153676.4(USH1C):c.1094A>G (p.Glu365Gly)
|
rs2133868538
|
|
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
|
|
|
NM_153676.4(USH1C):c.1099G>A (p.Glu367Lys)
|
rs2133868490
|
|
NM_153676.4(USH1C):c.1099G>T (p.Glu367Ter)
|
rs2133868490
|
|
NM_153676.4(USH1C):c.1104G>A (p.Glu368=)
|
|
|
NM_153676.4(USH1C):c.1106A>G (p.Lys369Arg)
|
|
|
NM_153676.4(USH1C):c.1107dup (p.Phe370fs)
|
|
|
NM_153676.4(USH1C):c.1119A>G (p.Gln373=)
|
rs2133868416
|
|
NM_153676.4(USH1C):c.1128A>G (p.Glu376=)
|
|
|
NM_153676.4(USH1C):c.1132_1133del (p.Trp378fs)
|
rs1850384410
|
|
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter)
|
rs1591999307
|
|
NM_153676.4(USH1C):c.1137C>T (p.Gly379=)
|
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
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NM_153676.4(USH1C):c.1140A>C (p.Ser380=)
|
rs2133868238
|
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NM_153676.4(USH1C):c.1146A>G (p.Glu382=)
|
rs2133868202
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
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NM_153676.4(USH1C):c.1150C>T (p.Leu384=)
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NM_153676.4(USH1C):c.1155C>G (p.Leu385=)
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NM_153676.4(USH1C):c.1167C>T (p.Thr389=)
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NM_153676.4(USH1C):c.116T>C (p.Val39Ala)
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NM_153676.4(USH1C):c.1184A>G (p.His395Arg)
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NM_153676.4(USH1C):c.1186C>G (p.Pro396Ala)
|
rs1850381453
|
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NM_153676.4(USH1C):c.1187C>G (p.Pro396Arg)
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|
NM_153676.4(USH1C):c.1187_1188inv (p.Pro396Leu)
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NM_153676.4(USH1C):c.1188del (p.Val397fs)
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NM_153676.4(USH1C):c.1190T>C (p.Val397Ala)
|
rs1166447896
|
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NM_153676.4(USH1C):c.1191A>T (p.Val397=)
|
rs747125926
|
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NM_153676.4(USH1C):c.1198C>T (p.Arg400Cys)
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NM_153676.4(USH1C):c.1210+10A>C
|
rs918131488
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NM_153676.4(USH1C):c.1210+12G>A
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NM_153676.4(USH1C):c.1210+15C>T
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NM_153676.4(USH1C):c.1210+19G>C
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NM_153676.4(USH1C):c.1210+19G>T
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NM_153676.4(USH1C):c.1210+2T>C
|
rs2133867701
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NM_153676.4(USH1C):c.1210+7T>C
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|
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NM_153676.4(USH1C):c.1210+9C>T
|
rs2133867678
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NM_153676.4(USH1C):c.1211-1093G>T
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NM_153676.4(USH1C):c.1211-1097C>T
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NM_153676.4(USH1C):c.1211-1099C>A
|
rs752356866
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NM_153676.4(USH1C):c.1211-1099C>G
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NM_153676.4(USH1C):c.1211-1099C>T
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NM_153676.4(USH1C):c.1211-1100C>T
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NM_153676.4(USH1C):c.1211-1102C>G
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NM_153676.4(USH1C):c.1211-1102C>T
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NM_153676.4(USH1C):c.1211-1102_1211-1101insA
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NM_153676.4(USH1C):c.1211-1103T>G
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NM_153676.4(USH1C):c.1221G>C (p.Trp407Cys)
|
rs1232470937
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NM_153676.4(USH1C):c.123G>A (p.Val41=)
|
rs2133920638
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NM_153676.4(USH1C):c.124C>T (p.Leu42Phe)
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NM_153676.4(USH1C):c.1250C>T (p.Thr417Ile)
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NM_153676.4(USH1C):c.1260+3A>G
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NM_153676.4(USH1C):c.1261-34C>T
|
rs2190454
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NM_153676.4(USH1C):c.127G>A (p.Val43Met)
|
rs145500807
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NM_153676.4(USH1C):c.127G>T (p.Val43Leu)
|
rs145500807
|
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NM_153676.4(USH1C):c.1287G>A (p.Lys429=)
|
rs1053537791
|
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NM_153676.4(USH1C):c.128T>G (p.Val43Gly)
|
rs1013399574
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NM_153676.4(USH1C):c.135C>A (p.Asp45Glu)
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NM_153676.4(USH1C):c.135C>T (p.Asp45=)
|
rs140319839
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NM_153676.4(USH1C):c.136C>T (p.Leu46=)
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NM_153676.4(USH1C):c.138G>A (p.Leu46=)
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NM_153676.4(USH1C):c.1413+1G>A
|
rs1591983169
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NM_153676.4(USH1C):c.1414G>A (p.Val472Met)
|
rs1381465423
|
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NM_153676.4(USH1C):c.142C>G (p.Leu48Val)
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NM_153676.4(USH1C):c.144G>A (p.Leu48=)
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NM_153676.4(USH1C):c.1457T>C (p.Ile486Thr)
|
rs756221230
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NM_153676.4(USH1C):c.145G>C (p.Val49Leu)
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NM_153676.4(USH1C):c.1471G>A (p.Glu491Lys)
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NM_153676.4(USH1C):c.148A>G (p.Ile50Val)
|
rs1257461261
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NM_153676.4(USH1C):c.1490G>T (p.Arg497Leu)
|
rs776650177
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NM_153676.4(USH1C):c.14T>G (p.Val5Gly)
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NM_153676.4(USH1C):c.1519G>A (p.Glu507Lys)
|
rs962425019
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NM_153676.4(USH1C):c.1531-3del
|
rs1591979546
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NM_153676.4(USH1C):c.1531A>C (p.Met511Leu)
|
rs886044610
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NM_153676.4(USH1C):c.1559dup (p.Ser521fs)
|
rs1554957167
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NM_153676.4(USH1C):c.1560T>C (p.Pro520=)
|
rs757006603
|
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NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr)
|
rs727503711
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NM_153676.4(USH1C):c.159C>T (p.Pro53=)
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NM_153676.4(USH1C):c.1637T>A (p.Ile546Asn)
|
rs1591979106
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NM_153676.4(USH1C):c.165T>G (p.Arg55=)
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NM_153676.4(USH1C):c.1664C>G (p.Pro555Arg)
|
rs766124113
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NM_153676.4(USH1C):c.168G>A (p.Leu56=)
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NM_153676.4(USH1C):c.1773A>G (p.Ser591=)
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NM_153676.4(USH1C):c.1781C>T (p.Pro594Leu)
|
rs758308462
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NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr)
|
rs727503710
|
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NM_153676.4(USH1C):c.1820C>T (p.Pro607Leu)
|
rs746490435
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NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
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NM_153676.4(USH1C):c.1823C>T (p.Pro608Leu)
|
rs41282932
|
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NM_153676.4(USH1C):c.1831G>A (p.Val611Ile)
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NM_153676.4(USH1C):c.1831G>T (p.Val611Phe)
|
rs560416690
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NM_153676.4(USH1C):c.183C>T (p.Ala61=)
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NM_153676.4(USH1C):c.183dup (p.Ile62fs)
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NM_153676.4(USH1C):c.1859G>A (p.Arg620His)
|
rs139996942
|
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NM_153676.4(USH1C):c.1868C>A (p.Pro623His)
|
rs745392903
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NM_153676.4(USH1C):c.1899T>C (p.His633=)
|
rs576183991
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NM_153676.4(USH1C):c.189G>C (p.Arg63=)
|
rs2133920083
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NM_153676.4(USH1C):c.18C>A (p.Ala6=)
|
rs1592049296
|
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NM_153676.4(USH1C):c.18C>T (p.Ala6=)
|
rs1592049296
|
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NM_153676.4(USH1C):c.191del (p.Pro64fs)
|
rs1850976904
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NM_153676.4(USH1C):c.192G>T (p.Pro64=)
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NM_153676.4(USH1C):c.1946C>A (p.Ala649Glu)
|
rs758940056
|
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NM_153676.4(USH1C):c.207G>A (p.Lys69=)
|
rs1850975340
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NM_153676.4(USH1C):c.20G>A (p.Arg7Gln)
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NM_153676.4(USH1C):c.210C>T (p.His70=)
|
rs1256576403
|
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NM_153676.4(USH1C):c.2122T>C (p.Ser708Pro)
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NM_153676.4(USH1C):c.2134-22dup
|
rs397848183
|
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NM_153676.4(USH1C):c.214G>A (p.Val72Met)
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NM_153676.4(USH1C):c.2184+7T>C
|
rs761925493
|
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NM_153676.4(USH1C):c.2185-16C>G
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NM_153676.4(USH1C):c.2185-1G>A
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NM_153676.4(USH1C):c.2185-8G>A
|
rs1318917179
|
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NM_153676.4(USH1C):c.2185-8G>C
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NM_153676.4(USH1C):c.2185-9T>G
|
rs2133788585
|
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NM_153676.4(USH1C):c.2208C>G (p.Gly736=)
|
rs1849464392
|
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NM_153676.4(USH1C):c.2210_2211dup (p.Asp738fs)
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NM_153676.4(USH1C):c.2215_2216delinsAA (p.Pro739Asn)
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NM_153676.4(USH1C):c.2224A>G (p.Met742Val)
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NM_153676.4(USH1C):c.2225T>C (p.Met742Thr)
|
rs200182990
|
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NM_153676.4(USH1C):c.2226+10G>A
|
rs751541429
|
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NM_153676.4(USH1C):c.2226+12C>A
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NM_153676.4(USH1C):c.2226+13G>A
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NM_153676.4(USH1C):c.2226+13G>C
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NM_153676.4(USH1C):c.2226+17C>T
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NM_153676.4(USH1C):c.2226+18T>C
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NM_153676.4(USH1C):c.2226+2T>C
|
rs1554954858
|
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NM_153676.4(USH1C):c.2226+3A>G
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NM_153676.4(USH1C):c.2226+7G>A
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NM_153676.4(USH1C):c.2226+9T>C
|
rs529646373
|
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NM_153676.4(USH1C):c.2227-2A>G
|
rs2133786425
|
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NM_153676.4(USH1C):c.2227-6C>A
|
rs548090508
|
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NM_153676.4(USH1C):c.2227-8C>G
|
|
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NM_153676.4(USH1C):c.2232C>G (p.Thr744=)
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NM_153676.4(USH1C):c.2232C>T (p.Thr744=)
|
rs1268620410
|
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NM_153676.4(USH1C):c.2237A>C (p.Glu746Ala)
|
|
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NM_153676.4(USH1C):c.2246T>C (p.Met749Thr)
|
|
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NM_153676.4(USH1C):c.2250G>A (p.Gly750=)
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NM_153676.4(USH1C):c.2250G>C (p.Gly750=)
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NM_153676.4(USH1C):c.225T>C (p.Asp75=)
|
rs111033279
|
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NM_153676.4(USH1C):c.2260C>A (p.Arg754=)
|
rs143803480
|
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NM_153676.4(USH1C):c.2261G>A (p.Arg754Gln)
|
|
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NM_153676.4(USH1C):c.2265C>G (p.Leu755=)
|
rs151251262
|
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NM_153676.4(USH1C):c.2266C>T (p.Leu756=)
|
rs1438151385
|
|
NM_153676.4(USH1C):c.2270G>T (p.Arg757Leu)
|
|
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NM_153676.4(USH1C):c.2271C>T (p.Arg757=)
|
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NM_153676.4(USH1C):c.2277G>A (p.Lys759=)
|
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NM_153676.4(USH1C):c.2280+10C>T
|
|
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NM_153676.4(USH1C):c.2280+18dup
|
rs569102513
|
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NM_153676.4(USH1C):c.2280+1G>T
|
|
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NM_153676.4(USH1C):c.2280+23G>A
|
rs370092421
|
|
NM_153676.4(USH1C):c.2280+7G>A
|
rs778799555
|
|
NM_153676.4(USH1C):c.2280+7G>T
|
|
|
NM_153676.4(USH1C):c.2281-17T>C
|
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NM_153676.4(USH1C):c.2281-18C>A
|
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NM_153676.4(USH1C):c.2281-20G>A
|
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NM_153676.4(USH1C):c.2281-4C>G
|
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NM_153676.4(USH1C):c.2281-7T>C
|
|
|
NM_153676.4(USH1C):c.2281G>T (p.Glu761Ter)
|
|
|
NM_153676.4(USH1C):c.2283G>A (p.Glu761=)
|
rs2133784400
|
|
NM_153676.4(USH1C):c.2286A>C (p.Gly762=)
|
|
|
NM_153676.4(USH1C):c.2286A>G (p.Gly762=)
|
rs2133784380
|
|
NM_153676.4(USH1C):c.2289C>A (p.Ser763=)
|
|
|
NM_153676.4(USH1C):c.2295C>G (p.Asp765Glu)
|
|
|
NM_153676.4(USH1C):c.2299G>T (p.Ala767Ser)
|
rs747220783
|
|
NM_153676.4(USH1C):c.229C>T (p.Leu77=)
|
|
|
NM_153676.4(USH1C):c.2300C>T (p.Ala767Val)
|
|
|
NM_153676.4(USH1C):c.2301C>T (p.Ala767=)
|
|
|
NM_153676.4(USH1C):c.2304G>A (p.Leu768=)
|
|
|
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)
|
rs775036726
|
|
NM_153676.4(USH1C):c.231G>T (p.Leu77=)
|
rs923814862
|
|
NM_153676.4(USH1C):c.2325C>T (p.Pro775=)
|
|
|
NM_153676.4(USH1C):c.2326A>T (p.Ile776Phe)
|
rs1186647324
|
|
NM_153676.4(USH1C):c.2334G>A (p.Lys778=)
|
rs1326150281
|
|
NM_153676.4(USH1C):c.2337G>C (p.Val779=)
|
|
|
NM_153676.4(USH1C):c.2344T>G (p.Ser782Ala)
|
rs2133783931
|
|
NM_153676.4(USH1C):c.2348C>T (p.Ala783Val)
|
|
|
NM_153676.4(USH1C):c.2349T>C (p.Ala783=)
|
|
|
NM_153676.4(USH1C):c.234C>A (p.Thr78=)
|
rs2133919710
|
|
NM_153676.4(USH1C):c.234C>G (p.Thr78=)
|
rs2133919710
|
|
NM_153676.4(USH1C):c.2351T>C (p.Val784Ala)
|
|
|
NM_153676.4(USH1C):c.2352G>A (p.Val784=)
|
rs1381782656
|
|
NM_153676.4(USH1C):c.2359C>T (p.Arg787Trp)
|
|
|
NM_153676.4(USH1C):c.2360G>A (p.Arg787Gln)
|
|
|
NM_153676.4(USH1C):c.2367T>C (p.Ala789=)
|
rs2133783771
|
|
NM_153676.4(USH1C):c.2374C>A (p.Arg792=)
|
rs200428926
|
|
NM_153676.4(USH1C):c.2375G>A (p.Arg792Gln)
|
|
|
NM_153676.4(USH1C):c.2375G>C (p.Arg792Pro)
|
rs563952065
|
|
NM_153676.4(USH1C):c.2380+12C>G
|
|
|
NM_153676.4(USH1C):c.2380+13T>G
|
|
|
NM_153676.4(USH1C):c.2380+15G>A
|
|
|
NM_153676.4(USH1C):c.2380+20A>C
|
|
|
NM_153676.4(USH1C):c.2380+4A>G
|
|
|
NM_153676.4(USH1C):c.2381-10C>G
|
|
|
NM_153676.4(USH1C):c.2381-11T>C
|
|
|
NM_153676.4(USH1C):c.2381-13C>T
|
|
|
NM_153676.4(USH1C):c.2381-14_2381-13del
|
|
|
NM_153676.4(USH1C):c.2381-15C>T
|
|
|
NM_153676.4(USH1C):c.2381-17G>A
|
|
|
NM_153676.4(USH1C):c.2382T>C (p.Gly794=)
|
|
|
NM_153676.4(USH1C):c.2386A>G (p.Ile796Val)
|
rs953438071
|
|
NM_153676.4(USH1C):c.2388T>C (p.Ile796=)
|
rs2133772801
|
|
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.238_239insT (p.Arg80fs)
|
rs2133919636
|
|
NM_153676.4(USH1C):c.238del (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2394A>G (p.Lys798=)
|
rs2133772780
|
|
NM_153676.4(USH1C):c.2395G>A (p.Gly799Arg)
|
|
|
NM_153676.4(USH1C):c.2397G>A (p.Gly799=)
|
rs2133772742
|
|
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2406C>T (p.Ile802=)
|
|
|
NM_153676.4(USH1C):c.2407del (p.Met803fs)
|
|
|
NM_153676.4(USH1C):c.2408T>C (p.Met803Thr)
|
|
|
NM_153676.4(USH1C):c.2412A>G (p.Ala804=)
|
|
|
NM_153676.4(USH1C):c.2415C>T (p.Ile805=)
|
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
NM_153676.4(USH1C):c.2423A>C (p.Lys808Thr)
|
rs1849310143
|
|
NM_153676.4(USH1C):c.2426T>C (p.Ile809Thr)
|
|
|
NM_153676.4(USH1C):c.2427T>C (p.Ile809=)
|
rs1849309859
|
|
NM_153676.4(USH1C):c.2430G>A (p.Val810=)
|
rs2133772570
|
|
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)
|
rs779253356
|
|
NM_153676.4(USH1C):c.2439C>T (p.Tyr813=)
|
|
|
NM_153676.4(USH1C):c.2442C>T (p.Thr814=)
|
|
|
NM_153676.4(USH1C):c.2443C>A (p.Leu815Met)
|
rs148477093
|
|
NM_153676.4(USH1C):c.2448T>C (p.Ala816=)
|
|
|
NM_153676.4(USH1C):c.244T>C (p.Ser82Pro)
|
rs2133919543
|
|
NM_153676.4(USH1C):c.2451G>A (p.Glu817=)
|
|
|
NM_153676.4(USH1C):c.2460T>A (p.Ala820=)
|
rs760474010
|
|
NM_153676.4(USH1C):c.2462C>G (p.Ala821Gly)
|
|
|
NM_153676.4(USH1C):c.2463C>G (p.Ala821=)
|
|
|
NM_153676.4(USH1C):c.2472G>A (p.Lys824=)
|
|
|
NM_153676.4(USH1C):c.2474C>G (p.Ala825Gly)
|
rs1565018184
|
|
NM_153676.4(USH1C):c.248+16C>T
|
|
|
NM_153676.4(USH1C):c.248+17C>T
|
|
|
NM_153676.4(USH1C):c.248+18A>T
|
|
|
NM_153676.4(USH1C):c.248+7_248+20del
|
rs749047869
|
|
NM_153676.4(USH1C):c.248+9G>A
|
rs1335503021
|
|
NM_153676.4(USH1C):c.2485G>A (p.Gly829Ser)
|
rs1849306526
|
|
NM_153676.4(USH1C):c.2486G>A (p.Gly829Asp)
|
rs773119803
|
|
NM_153676.4(USH1C):c.2487C>A (p.Gly829=)
|
|
|
NM_153676.4(USH1C):c.2487C>G (p.Gly829=)
|
rs142801489
|
|
NM_153676.4(USH1C):c.249-14C>T
|
|
|
NM_153676.4(USH1C):c.249-19G>A
|
|
|
NM_153676.4(USH1C):c.249-20C>T
|
|
|
NM_153676.4(USH1C):c.249-7G>T
|
rs2133918839
|
|
NM_153676.4(USH1C):c.249-8T>C
|
|
|
NM_153676.4(USH1C):c.2490+11G>A
|
|
|
NM_153676.4(USH1C):c.2490+12G>T
|
|
|
NM_153676.4(USH1C):c.2490+13C>T
|
|
|
NM_153676.4(USH1C):c.2490+15C>T
|
|
|
NM_153676.4(USH1C):c.2490+17T>G
|
|
|
NM_153676.4(USH1C):c.2490+18C>T
|
|
|
NM_153676.4(USH1C):c.2490+1G>A
|
|
|
NM_153676.4(USH1C):c.2490+1G>T
|
rs1554953746
|
|
NM_153676.4(USH1C):c.2490+7A>C
|
|
|
NM_153676.4(USH1C):c.2491-15G>A
|
rs772514718
|
|
NM_153676.4(USH1C):c.2491-17A>G
|
|
|
NM_153676.4(USH1C):c.2491-18C>T
|
|
|
NM_153676.4(USH1C):c.2491-1G>C
|
|
|
NM_153676.4(USH1C):c.2491-24_2491-19del
|
|
|
NM_153676.4(USH1C):c.2491-5C>A
|
|
|
NM_153676.4(USH1C):c.2491-5C>G
|
|
|
NM_153676.4(USH1C):c.2491-6C>T
|
|
|
NM_153676.4(USH1C):c.2491-7C>T
|
|
|
NM_153676.4(USH1C):c.24del (p.Glu8fs)
|
|
|
NM_153676.4(USH1C):c.2500G>A (p.Asp834Asn)
|
|
|
NM_153676.4(USH1C):c.2502C>T (p.Asp834=)
|
|
|
NM_153676.4(USH1C):c.2503C>T (p.Leu835Phe)
|
|
|
NM_153676.4(USH1C):c.2508G>A (p.Val836=)
|
|
|
NM_153676.4(USH1C):c.2522C>A (p.Pro841His)
|
rs754015985
|
|
NM_153676.4(USH1C):c.2525C>G (p.Pro842Arg)
|
|
|
NM_153676.4(USH1C):c.2525del (p.Pro842fs)
|
rs754257195
|
|
NM_153676.4(USH1C):c.2529G>A (p.Lys843=)
|
|
|
NM_153676.4(USH1C):c.2540A>G (p.Asp847Gly)
|
|
|
NM_153676.4(USH1C):c.2546+125A>G
|
rs2072229
|
|
NM_153676.4(USH1C):c.2546+14A>G
|
|
|
NM_153676.4(USH1C):c.2546+15G>T
|
|
|
NM_153676.4(USH1C):c.2546+19C>T
|
|
|
NM_153676.4(USH1C):c.2546+19del
|
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.2546+4A>C
|
|
|
NM_153676.4(USH1C):c.2546+8T>G
|
rs1849261496
|
|
NM_153676.4(USH1C):c.2546+9G>A
|
rs1565016955
|
|
NM_153676.4(USH1C):c.258G>A (p.Lys86=)
|
rs1850962082
|
|
NM_153676.4(USH1C):c.264G>A (p.Val88=)
|
rs397517879
|
|
NM_153676.4(USH1C):c.2655+33T>A
|
rs180973453
|
|
NM_153676.4(USH1C):c.2656-11C>T
|
|
|
NM_153676.4(USH1C):c.2656-12A>G
|
|
|
NM_153676.4(USH1C):c.2656-14C>T
|
|
|
NM_153676.4(USH1C):c.2656-15T>C
|
|
|
NM_153676.4(USH1C):c.2656-18G>A
|
|
|
NM_153676.4(USH1C):c.2656-6C>G
|
|
|
NM_153676.4(USH1C):c.2656-8C>T
|
rs916434099
|
|
NM_153676.4(USH1C):c.2657A>G (p.Asp886Gly)
|
|
|
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)
|
rs1474458620
|
|
NM_153676.4(USH1C):c.2665C>T (p.Leu889=)
|
rs1186199578
|
|
NM_153676.4(USH1C):c.268C>T (p.Leu90=)
|
rs1850960839
|
|
NM_153676.4(USH1C):c.2695C>G (p.Arg899Gly)
|
rs757572697
|
|
NM_153676.4(USH1C):c.2696G>A (p.Arg899His)
|
|
|
NM_153676.4(USH1C):c.2696G>T (p.Arg899Leu)
|
rs148376296
|
|
NM_153676.4(USH1C):c.274C>A (p.Arg92Ser)
|
rs775407483
|
|
NM_153676.4(USH1C):c.279G>C (p.Leu93=)
|
rs2133918556
|
|
NM_153676.4(USH1C):c.281A>G (p.His94Arg)
|
|
|
NM_153676.4(USH1C):c.282C>T (p.His94=)
|
|
|
NM_153676.4(USH1C):c.285C>G (p.Pro95=)
|
|
|
NM_153676.4(USH1C):c.285C>T (p.Pro95=)
|
|
|
NM_153676.4(USH1C):c.291C>G (p.Gly97=)
|
rs2133918412
|
|
NM_153676.4(USH1C):c.291C>T (p.Gly97=)
|
rs2133918412
|
|
NM_153676.4(USH1C):c.294C>G (p.Leu98=)
|
|
|
NM_153676.4(USH1C):c.295G>T (p.Gly99Cys)
|
rs370054635
|
|
NM_153676.4(USH1C):c.297C>G (p.Gly99=)
|
rs751057721
|
|
NM_153676.4(USH1C):c.298C>T (p.Leu100=)
|
|
|
NM_153676.4(USH1C):c.306G>A (p.Val102=)
|
rs779846750
|
|
NM_153676.4(USH1C):c.307C>A (p.Arg103Ser)
|
rs397517880
|
|
NM_153676.4(USH1C):c.308G>C (p.Arg103Pro)
|
|
|
NM_153676.4(USH1C):c.30G>T (p.Arg10=)
|
|
|
NM_153676.4(USH1C):c.324T>C (p.Phe108=)
|
rs549758189
|
|
NM_153676.4(USH1C):c.326G>A (p.Gly109Asp)
|
|
|
NM_153676.4(USH1C):c.326G>T (p.Gly109Val)
|
|
|
NM_153676.4(USH1C):c.332G>T (p.Gly111Val)
|
rs1850955520
|
|
NM_153676.4(USH1C):c.333G>A (p.Gly111=)
|
|
|
NM_153676.4(USH1C):c.336C>T (p.Leu112=)
|
|
|
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr)
|
rs767655370
|
|
NM_153676.4(USH1C):c.348_373del (p.His116fs)
|
rs2133917820
|
|
NM_153676.4(USH1C):c.354C>T (p.Ile118=)
|
|
|
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser)
|
rs1850953775
|
|
NM_153676.4(USH1C):c.36+10G>T
|
rs1419217210
|
|
NM_153676.4(USH1C):c.36+17G>A
|
|
|
NM_153676.4(USH1C):c.36+19C>G
|
|
|
NM_153676.4(USH1C):c.36+1G>A
|
rs1403777293
|
|
NM_153676.4(USH1C):c.36+20C>A
|
|
|
NM_153676.4(USH1C):c.36+2T>A
|
rs1851605100
|
|
NM_153676.4(USH1C):c.36+7G>A
|
|
|
NM_153676.4(USH1C):c.36+9T>C
|
rs2133974302
|
|
NM_153676.4(USH1C):c.363T>C (p.Gly121=)
|
|
|
NM_153676.4(USH1C):c.364C>T (p.Gln122Ter)
|
rs1850953103
|
|
NM_153676.4(USH1C):c.368C>G (p.Ala123Gly)
|
|
|
NM_153676.4(USH1C):c.37-13T>C
|
|
|
NM_153676.4(USH1C):c.37-14A>C
|
|
|
NM_153676.4(USH1C):c.37-168G>A
|
rs77999105
|
|
NM_153676.4(USH1C):c.37-19C>A
|
|
|
NM_153676.4(USH1C):c.37-19C>T
|
|
|
NM_153676.4(USH1C):c.37-1G>C
|
|
|
NM_153676.4(USH1C):c.37-3C>T
|
|
|
NM_153676.4(USH1C):c.37-3_46del
|
rs2133928467
|
|
NM_153676.4(USH1C):c.37-44G>T
|
rs539980644
|
|
NM_153676.4(USH1C):c.37-44_37-42dup
|
rs5789992
|
|
NM_153676.4(USH1C):c.37-44_37-43dup
|
rs5789992
|
|
NM_153676.4(USH1C):c.37-44dup
|
rs5789992
|
|
NM_153676.4(USH1C):c.37-49_37-48insC
|
rs374928611
|
|
NM_153676.4(USH1C):c.37-49_37-48insTT
|
rs374928611
|
|
NM_153676.4(USH1C):c.37-4C>T
|
|
|
NM_153676.4(USH1C):c.37-7T>C
|
|
|
NM_153676.4(USH1C):c.37-9A>G
|
rs2133928540
|
|
NM_153676.4(USH1C):c.372C>G (p.Asp124Glu)
|
|
|
NM_153676.4(USH1C):c.376G>A (p.Val126Ile)
|
rs1280648795
|
|
NM_153676.4(USH1C):c.384C>G (p.Leu128=)
|
rs2133917671
|
|
NM_153676.4(USH1C):c.387+11dup
|
|
|
NM_153676.4(USH1C):c.387+14G>A
|
|
|
NM_153676.4(USH1C):c.387+17C>G
|
rs78718533
|
|
NM_153676.4(USH1C):c.387+17_387+20del
|
|
|
NM_153676.4(USH1C):c.387+18G>A
|
|
|
NM_153676.4(USH1C):c.387+19G>A
|
|
|
NM_153676.4(USH1C):c.387+1G>A
|
|
|
NM_153676.4(USH1C):c.387+1G>C
|
rs1850950786
|
|
NM_153676.4(USH1C):c.387+20G>A
|
|
|
NM_153676.4(USH1C):c.387+20G>T
|
rs1229006449
|
|
NM_153676.4(USH1C):c.387+5G>C
|
|
|
NM_153676.4(USH1C):c.387+6C>A
|
|
|
NM_153676.4(USH1C):c.387+8_387+11del
|
rs1258477298
|
|
NM_153676.4(USH1C):c.388-11C>T
|
rs1370716833
|
|
NM_153676.4(USH1C):c.388-15C>G
|
|
|
NM_153676.4(USH1C):c.388-15C>T
|
|
|
NM_153676.4(USH1C):c.388-17CT[5]
|
rs750322163
|
|
NM_153676.4(USH1C):c.388-18C>A
|
|
|
NM_153676.4(USH1C):c.388-6G>C
|
|
|
NM_153676.4(USH1C):c.388-9G>A
|
rs1850749845
|
|
NM_153676.4(USH1C):c.389T>C (p.Val130Ala)
|
rs1421385034
|
|
NM_153676.4(USH1C):c.390A>G (p.Val130=)
|
rs1380888214
|
|
NM_153676.4(USH1C):c.397G>A (p.Glu133Lys)
|
|
|
NM_153676.4(USH1C):c.405C>A (p.Val135=)
|
rs762298047
|
|
NM_153676.4(USH1C):c.405C>G (p.Val135=)
|
rs762298047
|
|
NM_153676.4(USH1C):c.408G>C (p.Arg136=)
|
rs200335331
|
|
NM_153676.4(USH1C):c.408G>T (p.Arg136=)
|
rs200335331
|
|
NM_153676.4(USH1C):c.409A>G (p.Ile137Val)
|
rs1850747142
|
|
NM_153676.4(USH1C):c.417A>G (p.Gly139=)
|
|
|
NM_153676.4(USH1C):c.419A>C (p.Tyr140Ser)
|
rs775231512
|
|
NM_153676.4(USH1C):c.436A>G (p.Thr146Ala)
|
|
|
NM_153676.4(USH1C):c.441T>C (p.His147=)
|
rs769438169
|
|
NM_153676.4(USH1C):c.448G>A (p.Val150Ile)
|
rs1850744294
|
|
NM_153676.4(USH1C):c.453C>A (p.Ile151=)
|
rs1048394303
|
|
NM_153676.4(USH1C):c.453C>T (p.Ile151=)
|
rs1048394303
|
|
NM_153676.4(USH1C):c.459C>T (p.Leu153=)
|
rs1480220736
|
|
NM_153676.4(USH1C):c.471G>A (p.Lys157=)
|
rs2133900058
|
|
NM_153676.4(USH1C):c.480_481del (p.Ser161fs)
|
|
|
NM_153676.4(USH1C):c.486C>T (p.Ile162=)
|
|
|
NM_153676.4(USH1C):c.491_492del (p.Val164fs)
|
rs1850741468
|
|
NM_153676.4(USH1C):c.492G>A (p.Val164=)
|
rs1592014365
|
|
NM_153676.4(USH1C):c.496+11C>G
|
rs1404166649
|
|
NM_153676.4(USH1C):c.496+11_496+13del
|
rs1239667277
|
|
NM_153676.4(USH1C):c.496+12C>G
|
rs2133899700
|
|
NM_153676.4(USH1C):c.496+13A>C
|
|
|
NM_153676.4(USH1C):c.496+13A>G
|
rs111033277
|
|
NM_153676.4(USH1C):c.496+14_496+15insGG
|
|
|
NM_153676.4(USH1C):c.496+14_496+15insGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG
|
|
|
NM_153676.4(USH1C):c.496+15A>G
|
|
|
NM_153676.4(USH1C):c.496+16_496+17insGAGGGAGGGCGGGG
|
rs2133899631
|
|
NM_153676.4(USH1C):c.496+18A>C
|
rs1327668205
|
|
NM_153676.4(USH1C):c.496+18A>G
|
|
|
NM_153676.4(USH1C):c.496+19G>A
|
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+20G>A
|
rs1426047101
|
|
NM_153676.4(USH1C):c.496+20G>C
|
|
|
NM_153676.4(USH1C):c.496+20G>T
|
|
|
NM_153676.4(USH1C):c.496+2T>A
|
|
|
NM_153676.4(USH1C):c.496+33=
|
rs12795083
|
|
NM_153676.4(USH1C):c.496+6T>C
|
|
|
NM_153676.4(USH1C):c.496+6T>G
|
|
|
NM_153676.4(USH1C):c.496+7G>T
|
rs2133899761
|
|
NM_153676.4(USH1C):c.496+8A>G
|
rs1469160203
|
|
NM_153676.4(USH1C):c.496_496+4del
|
|
|
NM_153676.4(USH1C):c.497-14C>T
|
|
|
NM_153676.4(USH1C):c.497-15G>T
|
|
|
NM_153676.4(USH1C):c.497-19dup
|
rs1241075457
|
|
NM_153676.4(USH1C):c.497-2A>C
|
rs2133897518
|
|
NM_153676.4(USH1C):c.497-5C>G
|
rs749319911
|
|
NM_153676.4(USH1C):c.497-6C>T
|
rs771186352
|
|
NM_153676.4(USH1C):c.497-9C>G
|
rs1291206612
|
|
NM_153676.4(USH1C):c.498C>T (p.His166=)
|
|
|
NM_153676.4(USH1C):c.501C>T (p.Ile167=)
|
rs1382747364
|
|
NM_153676.4(USH1C):c.502G>C (p.Gly168Arg)
|
|
|
NM_153676.4(USH1C):c.503G>C (p.Gly168Ala)
|
|
|
NM_153676.4(USH1C):c.505C>T (p.Leu169=)
|
|
|
NM_153676.4(USH1C):c.506T>C (p.Leu169Pro)
|
|
|
NM_153676.4(USH1C):c.507G>C (p.Leu169=)
|
rs1439982181
|
|
NM_153676.4(USH1C):c.514G>A (p.Val172Met)
|
|
|
NM_153676.4(USH1C):c.514G>T (p.Val172Leu)
|
rs748703138
|
|
NM_153676.4(USH1C):c.51T>C (p.Ile17=)
|
|
|
NM_153676.4(USH1C):c.521+11C>G
|
|
|
NM_153676.4(USH1C):c.521+13T>C
|
rs993568936
|
|
NM_153676.4(USH1C):c.521+15C>T
|
|
|
NM_153676.4(USH1C):c.521+17C>G
|
|
|
NM_153676.4(USH1C):c.521+17C>T
|
|
|
NM_153676.4(USH1C):c.521+1G>A
|
|
|
NM_153676.4(USH1C):c.521+7G>A
|
rs1205662320
|
|
NM_153676.4(USH1C):c.521+8G>A
|
|
|
NM_153676.4(USH1C):c.522-15T>C
|
|
|
NM_153676.4(USH1C):c.522-21_522-14dup
|
|
|
NM_153676.4(USH1C):c.522-4T>C
|
|
|
NM_153676.4(USH1C):c.522-5A>C
|
rs1850699743
|
|
NM_153676.4(USH1C):c.522-5A>G
|
rs1850699743
|
|
NM_153676.4(USH1C):c.522-9T>C
|
rs2133895939
|
|
NM_153676.4(USH1C):c.525T>C (p.Ser175=)
|
|
|
NM_153676.4(USH1C):c.526C>G (p.Pro176Ala)
|
|
|
NM_153676.4(USH1C):c.527C>T (p.Pro176Leu)
|
rs1461558857
|
|
NM_153676.4(USH1C):c.530A>G (p.Asp177Gly)
|
rs1850699098
|
|
NM_153676.4(USH1C):c.534G>A (p.Glu178=)
|
rs1320294264
|
|
NM_153676.4(USH1C):c.535C>A (p.Pro179Thr)
|
rs2133895786
|
|
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
|
|
|
NM_153676.4(USH1C):c.547C>T (p.Gln183Ter)
|
|
|
NM_153676.4(USH1C):c.549G>A (p.Gln183=)
|
|
|
NM_153676.4(USH1C):c.551A>C (p.Tyr184Ser)
|
|
|
NM_153676.4(USH1C):c.554T>G (p.Val185Gly)
|
|
|
NM_153676.4(USH1C):c.556G>A (p.Asp186Asn)
|
|
|
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.573A>G (p.Glu191=)
|
rs2133895540
|
|
NM_153676.4(USH1C):c.579+10A>G
|
|
|
NM_153676.4(USH1C):c.579+14C>G
|
|
|
NM_153676.4(USH1C):c.579+15T>C
|
|
|
NM_153676.4(USH1C):c.579+1G>A
|
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.579+1G>T
|
|
|
NM_153676.4(USH1C):c.579+2T>G
|
rs2133895509
|
|
NM_153676.4(USH1C):c.579+5G>A
|
rs1850695435
|
|
NM_153676.4(USH1C):c.579+7G>T
|
|
|
NM_153676.4(USH1C):c.57T>C (p.Asn19=)
|
rs1851071899
|
|
NM_153676.4(USH1C):c.580-12T>C
|
|
|
NM_153676.4(USH1C):c.580-13A>C
|
|
|
NM_153676.4(USH1C):c.580-13A>G
|
|
|
NM_153676.4(USH1C):c.580-17T>C
|
|
|
NM_153676.4(USH1C):c.580-18C>T
|
|
|
NM_153676.4(USH1C):c.580-27G>T
|
rs6486378
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.580-5T>C
|
|
|
NM_153676.4(USH1C):c.580-9_580-6del
|
rs2133894049
|
|
NM_153676.4(USH1C):c.582C>A (p.Gly194=)
|
rs397517882
|
|
NM_153676.4(USH1C):c.585G>A (p.Val195=)
|
|
|
NM_153676.4(USH1C):c.586C>A (p.Arg196=)
|
|
|
NM_153676.4(USH1C):c.590del (p.Gly197fs)
|
|
|
NM_153676.4(USH1C):c.591C>T (p.Gly197=)
|
|
|
NM_153676.4(USH1C):c.594C>G (p.Ser198Arg)
|
|
|
NM_153676.4(USH1C):c.595C>T (p.Leu199=)
|
rs2133893883
|
|
NM_153676.4(USH1C):c.600C>A (p.Gly200=)
|
|
|
NM_153676.4(USH1C):c.601T>C (p.Ser201Pro)
|
|
|
NM_153676.4(USH1C):c.603C>T (p.Ser201=)
|
rs2133893762
|
|
NM_153676.4(USH1C):c.610A>C (p.Asn204His)
|
|
|
NM_153676.4(USH1C):c.614G>C (p.Arg205Pro)
|
rs777321803
|
|
NM_153676.4(USH1C):c.615G>T (p.Arg205=)
|
rs2133893680
|
|
NM_153676.4(USH1C):c.627G>C (p.Glu209Asp)
|
|
|
NM_153676.4(USH1C):c.634G>A (p.Val212Ile)
|
rs886048060
|
|
NM_153676.4(USH1C):c.636C>G (p.Val212=)
|
rs2133893552
|
|
NM_153676.4(USH1C):c.639C>T (p.Phe213=)
|
rs2133893518
|
|
NM_153676.4(USH1C):c.63A>C (p.Ala21=)
|
rs914156135
|
|
NM_153676.4(USH1C):c.642C>A (p.Ile214=)
|
|
|
NM_153676.4(USH1C):c.650T>A (p.Val217Glu)
|
|
|
NM_153676.4(USH1C):c.650T>C (p.Val217Ala)
|
|
|
NM_153676.4(USH1C):c.653G>T (p.Gly218Val)
|
|
|
NM_153676.4(USH1C):c.658del (p.Arg220fs)
|
|
|
NM_153676.4(USH1C):c.659G>A (p.Arg220Gln)
|
rs754055631
|
|
NM_153676.4(USH1C):c.673A>G (p.Ser225Gly)
|
|
|
NM_153676.4(USH1C):c.674+12G>A
|
|
|
NM_153676.4(USH1C):c.674+14A>G
|
|
|
NM_153676.4(USH1C):c.674+15T>G
|
|
|
NM_153676.4(USH1C):c.674+16G>A
|
|
|
NM_153676.4(USH1C):c.674+18C>G
|
|
|
NM_153676.4(USH1C):c.674+19C>A
|
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+20del
|
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.674+7G>A
|
|
|
NM_153676.4(USH1C):c.674+8G>A
|
rs1850670287
|
|
NM_153676.4(USH1C):c.675-12C>G
|
|
|
NM_153676.4(USH1C):c.675-133G>A
|
rs114117710
|
|
NM_153676.4(USH1C):c.675-14C>T
|
|
|
NM_153676.4(USH1C):c.675-18A>G
|
|
|
NM_153676.4(USH1C):c.675-1G>T
|
|
|
NM_153676.4(USH1C):c.690C>T (p.Pro230=)
|
|
|
NM_153676.4(USH1C):c.693C>A (p.Ile231=)
|
|
|
NM_153676.4(USH1C):c.694C>T (p.Gln232Ter)
|
|
|
NM_153676.4(USH1C):c.695del (p.Gln232fs)
|
|
|
NM_153676.4(USH1C):c.6C>T (p.Asp2=)
|
|
|
NM_153676.4(USH1C):c.702T>A (p.Pro234=)
|
rs1447923038
|
|
NM_153676.4(USH1C):c.702T>G (p.Pro234=)
|
rs1447923038
|
|
NM_153676.4(USH1C):c.70del (p.Asp24fs)
|
|
|
NM_153676.4(USH1C):c.714C>T (p.Ile238=)
|
rs2133885330
|
|
NM_153676.4(USH1C):c.720T>C (p.His240=)
|
rs2133885286
|
|
NM_153676.4(USH1C):c.726A>G (p.Lys242=)
|
|
|
NM_153676.4(USH1C):c.729T>C (p.Pro243=)
|
|
|
NM_153676.4(USH1C):c.732C>A (p.Gly244=)
|
|
|
NM_153676.4(USH1C):c.732C>G (p.Gly244=)
|
rs1292479601
|
|
NM_153676.4(USH1C):c.732C>T (p.Gly244=)
|
|
|
NM_153676.4(USH1C):c.734C>G (p.Ser245Cys)
|
|
|
NM_153676.4(USH1C):c.742G>T (p.Ala248Ser)
|
|
|
NM_153676.4(USH1C):c.745G>T (p.Glu249Ter)
|
|
|
NM_153676.4(USH1C):c.747G>A (p.Glu249=)
|
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.756G>A (p.Leu252=)
|
rs1850566068
|
|
NM_153676.4(USH1C):c.759+10G>A
|
rs368528034
|
|
NM_153676.4(USH1C):c.759+14G>A
|
|
|
NM_153676.4(USH1C):c.759+17C>G
|
rs373148928
|
|
NM_153676.4(USH1C):c.759+18G>A
|
|
|
NM_153676.4(USH1C):c.759+18G>T
|
|
|
NM_153676.4(USH1C):c.759+79G>A
|
rs190764916
|
|
NM_153676.4(USH1C):c.759+7G>T
|
|
|
NM_153676.4(USH1C):c.75T>G (p.Tyr25Ter)
|
|
|
NM_153676.4(USH1C):c.760-10T>C
|
|
|
NM_153676.4(USH1C):c.760-15C>T
|
|
|
NM_153676.4(USH1C):c.760-1G>C
|
|
|
NM_153676.4(USH1C):c.760-20T>C
|
|
|
NM_153676.4(USH1C):c.760-5A>G
|
|
|
NM_153676.4(USH1C):c.760-7C>T
|
rs2133880932
|
|
NM_153676.4(USH1C):c.760-8C>G
|
|
|
NM_153676.4(USH1C):c.760-8C>T
|
|
|
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
|
rs267602805
|
|
NM_153676.4(USH1C):c.777del (p.Glu260fs)
|
|
|
NM_153676.4(USH1C):c.789C>T (p.Gly263=)
|
rs376197674
|
|
NM_153676.4(USH1C):c.792C>A (p.Val264=)
|
rs750856849
|
|
NM_153676.4(USH1C):c.792C>T (p.Val264=)
|
rs750856849
|
|
NM_153676.4(USH1C):c.795C>T (p.Asp265=)
|
rs974736193
|
|
NM_153676.4(USH1C):c.7C>A (p.Arg3=)
|
rs876657624
|
|
NM_153676.4(USH1C):c.804C>T (p.Asn268=)
|
|
|
NM_153676.4(USH1C):c.808G>T (p.Asp270Tyr)
|
|
|
NM_153676.4(USH1C):c.816G>A (p.Lys272=)
|
|
|
NM_153676.4(USH1C):c.818A>T (p.Glu273Val)
|
rs2133880564
|
|
NM_153676.4(USH1C):c.819+11G>A
|
|
|
NM_153676.4(USH1C):c.819+13G>T
|
|
|
NM_153676.4(USH1C):c.819+2T>G
|
rs2133880503
|
|
NM_153676.4(USH1C):c.819+7T>A
|
rs2133880480
|
|
NM_153676.4(USH1C):c.820-17T>A
|
|
|
NM_153676.4(USH1C):c.820-17T>C
|
|
|
NM_153676.4(USH1C):c.820-18G>A
|
|
|
NM_153676.4(USH1C):c.820-2A>T
|
rs200702266
|
|
NM_153676.4(USH1C):c.825A>G (p.Val275=)
|
rs2133879463
|
|
NM_153676.4(USH1C):c.830T>G (p.Val277Gly)
|
|
|
NM_153676.4(USH1C):c.831G>A (p.Val277=)
|
|
|
NM_153676.4(USH1C):c.837G>A (p.Lys279=)
|
|
|
NM_153676.4(USH1C):c.838A>C (p.Ser280Arg)
|
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.846C>T (p.Arg282=)
|
|
|
NM_153676.4(USH1C):c.84T>C (p.Asp28=)
|
|
|
NM_153676.4(USH1C):c.852G>C (p.Leu284=)
|
rs1318343066
|
|
NM_153676.4(USH1C):c.855C>T (p.Thr285=)
|
|
|
NM_153676.4(USH1C):c.861C>T (p.Ser287=)
|
rs2133879123
|
|
NM_153676.4(USH1C):c.863T>C (p.Ile288Thr)
|
rs1850498077
|
|
NM_153676.4(USH1C):c.864T>A (p.Ile288=)
|
|
|
NM_153676.4(USH1C):c.876+2T>C
|
rs2133878965
|
|
NM_153676.4(USH1C):c.876+8C>A
|
|
|
NM_153676.4(USH1C):c.877-10C>T
|
|
|
NM_153676.4(USH1C):c.877-15C>T
|
|
|
NM_153676.4(USH1C):c.877-17C>T
|
|
|
NM_153676.4(USH1C):c.877-19G>T
|
|
|
NM_153676.4(USH1C):c.877-19del
|
rs771559169
|
|
NM_153676.4(USH1C):c.877-2A>C
|
|
|
NM_153676.4(USH1C):c.877-3G>C
|
|
|
NM_153676.4(USH1C):c.877-4T>C
|
|
|
NM_153676.4(USH1C):c.877-5A>C
|
|
|
NM_153676.4(USH1C):c.877-5A>T
|
rs975526751
|
|
NM_153676.4(USH1C):c.885G>T (p.Glu295Asp)
|
|
|
NM_153676.4(USH1C):c.886C>T (p.Leu296=)
|
|
|
NM_153676.4(USH1C):c.888G>A (p.Leu296=)
|
rs1592003565
|
|
NM_153676.4(USH1C):c.888G>T (p.Leu296=)
|
|
|
NM_153676.4(USH1C):c.891C>T (p.Phe297=)
|
rs1350529996
|
|
NM_153676.4(USH1C):c.896C>T (p.Thr299Ile)
|
|
|
NM_153676.4(USH1C):c.901C>A (p.Arg301=)
|
rs574790229
|
|
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)
|
rs574790229
|
|
NM_153676.4(USH1C):c.901del (p.Arg301fs)
|
|
|
NM_153676.4(USH1C):c.902G>A (p.Arg301Gln)
|
|
|
NM_153676.4(USH1C):c.910C>T (p.Leu304=)
|
|
|
NM_153676.4(USH1C):c.912G>A (p.Leu304=)
|
|
|
NM_153676.4(USH1C):c.913G>A (p.Ala305Thr)
|
rs1187754133
|
|
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
|
rs1554960929
|
|
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
|
|
|
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs)
|
rs761465345
|
|
NM_153676.4(USH1C):c.918G>A (p.Glu306=)
|
rs1253427305
|
|
NM_153676.4(USH1C):c.920C>T (p.Ala307Val)
|
|
|
NM_153676.4(USH1C):c.922C>A (p.Arg308=)
|
|
|
NM_153676.4(USH1C):c.922C>G (p.Arg308Gly)
|
|
|
NM_153676.4(USH1C):c.929G>A (p.Arg310His)
|
|
|
NM_153676.4(USH1C):c.933G>A (p.Glu311=)
|
rs2133876802
|
|
NM_153676.4(USH1C):c.940C>T (p.Arg314Trp)
|
|
|
NM_153676.4(USH1C):c.941G>A (p.Arg314Gln)
|
|
|
NM_153676.4(USH1C):c.942G>T (p.Arg314=)
|
rs1183830862
|
|
NM_153676.4(USH1C):c.948G>A (p.Glu316=)
|
|
|
NM_153676.4(USH1C):c.948_955del (p.Glu316fs)
|
rs1312118611
|
|
NM_153676.4(USH1C):c.949C>A (p.Leu317Ile)
|
|
|
NM_153676.4(USH1C):c.951T>C (p.Leu317=)
|
rs2133876559
|
|
NM_153676.4(USH1C):c.954C>A (p.Leu318=)
|
|
|
NM_153676.4(USH1C):c.956T>G (p.Met319Arg)
|
|
|
NM_153676.4(USH1C):c.95T>C (p.Met32Thr)
|
|
|
NM_153676.4(USH1C):c.963G>A (p.Lys321=)
|
|
|
NM_153676.4(USH1C):c.964C>A (p.Arg322=)
|
|
|
NM_153676.4(USH1C):c.966G>A (p.Arg322=)
|
rs748749433
|
|
NM_153676.4(USH1C):c.976G>A (p.Glu326Lys)
|
rs2133876297
|
|
NM_153676.4(USH1C):c.981C>G (p.Ser327=)
|
rs2133876268
|
|
NM_153676.4(USH1C):c.984C>G (p.Asn328Lys)
|
|
|
NM_153676.4(USH1C):c.984C>T (p.Asn328=)
|
rs1328527104
|
|
NM_153676.4(USH1C):c.985A>G (p.Lys329Glu)
|
rs1850472072
|
|
NM_153676.4(USH1C):c.988A>T (p.Ile330Phe)
|
rs767460132
|
|
NM_153676.4(USH1C):c.993C>G (p.Leu331=)
|
|
|
NM_153676.4(USH1C):c.993C>T (p.Leu331=)
|
|
|