NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00065
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456
|
0.00004
|
NM_153676.4(USH1C):c.121G>A (p.Val41Met)
|
rs780439529
|
0.00003
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.310G>C (p.Gly104Arg)
|
rs1387867750
|
0.00002
|
NM_005709.4(USH1C):c.1211-3_1232del
|
rs1246699436
|
0.00001
|
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)
|
rs1278026061
|
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.1824del (p.Pro609fs)
|
rs1389725640
|
0.00001
|
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)
|
rs369369849
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
0.00001
|
NM_153676.4(USH1C):c.249-1G>A
|
rs1850962546
|
0.00001
|
NM_153676.4(USH1C):c.2547-1G>T
|
rs571304936
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.375del (p.Ser125fs)
|
rs756032457
|
0.00001
|
NM_153676.4(USH1C):c.387+1G>A
|
rs1850950786
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
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.759+1G>A
|
rs968918465
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)
|
rs776511246
|
0.00001
|
NC_000011.10:g.17526347dup
|
rs1554961872
|
|
NM_005709.4(USH1C):c.1211-5_1232delinsCGG
|
|
|
NM_005709.4(USH1C):c.1216C>T (p.Gln406Ter)
|
|
|
NM_005709.4(USH1C):c.1284+5347_1284+5350del
|
rs2497073190
|
|
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
|
rs935876011
|
|
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
|
rs776644722
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
|
rs2497144443
|
|
NM_153676.4(USH1C):c.104+2T>C
|
rs2497240788
|
|
NM_153676.4(USH1C):c.104+5G>C
|
rs2133927984
|
|
NM_153676.4(USH1C):c.105-1G>T
|
rs2133920848
|
|
NM_153676.4(USH1C):c.105-2A>G
|
rs1850985627
|
|
NM_153676.4(USH1C):c.1085+1G>C
|
rs2133870164
|
|
NM_153676.4(USH1C):c.1086-1G>T
|
rs2497139905
|
|
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
|
rs2497139677
|
|
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
|
rs1565047971
|
|
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
|
rs2497228517
|
|
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
|
rs2497139451
|
|
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter)
|
rs1591999307
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1144G>T (p.Glu382Ter)
|
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1210+2T>C
|
rs2133867701
|
|
NM_153676.4(USH1C):c.1210+2T>G
|
|
|
NM_153676.4(USH1C):c.1508_1509dup (p.Ala504fs)
|
|
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2185-1G>A
|
rs746871920
|
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232
|
|
NM_153676.4(USH1C):c.2217dup (p.Tyr740fs)
|
|
|
NM_153676.4(USH1C):c.2226+2T>C
|
rs1554954858
|
|
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
|
rs2497003503
|
|
NM_153676.4(USH1C):c.2280+1G>T
|
rs2497003399
|
|
NM_153676.4(USH1C):c.2280+2T>C
|
rs1554954681
|
|
NM_153676.4(USH1C):c.2281-1G>A
|
rs1554954574
|
|
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer)
|
rs1591961566
|
|
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
|
rs2496999266
|
|
NM_153676.4(USH1C):c.2371G>T (p.Glu791Ter)
|
|
|
NM_153676.4(USH1C):c.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.2381-7_2381del
|
rs2496984080
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
|
rs2496983878
|
|
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
|
rs748171099
|
|
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
|
rs2496983474
|
|
NM_153676.4(USH1C):c.2490+1G>A
|
rs1554953746
|
|
NM_153676.4(USH1C):c.2490+1G>T
|
rs1554953746
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2490+2T>C
|
rs1554953745
|
|
NM_153676.4(USH1C):c.2491-1G>C
|
rs1565017125
|
|
NM_153676.4(USH1C):c.2491-2A>G
|
|
|
NM_153676.4(USH1C):c.2525dup (p.Glu844fs)
|
rs754257195
|
|
NM_153676.4(USH1C):c.2535del (p.Glu844_Tyr845insTer)
|
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.286G>T (p.Glu96Ter)
|
rs769420899
|
|
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
|
rs2497223701
|
|
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
|
rs2497223524
|
|
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
|
rs2497222958
|
|
NM_153676.4(USH1C):c.36+1G>A
|
rs1403777293
|
|
NM_153676.4(USH1C):c.36+2T>A
|
rs1851605100
|
|
NM_153676.4(USH1C):c.37-1G>C
|
rs2497242255
|
|
NM_153676.4(USH1C):c.37-3_46del
|
rs2133928467
|
|
NM_153676.4(USH1C):c.380_381insTTT (p.Leu128_Gln129insLeu)
|
|
|
NM_153676.4(USH1C):c.387+1G>C
|
rs1850950786
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.38T>C (p.Val13Ala)
|
|
|
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)
|
rs1565058763
|
|
NM_153676.4(USH1C):c.491_492del (p.Val164fs)
|
rs1850741468
|
|
NM_153676.4(USH1C):c.497-2A>C
|
rs2133897518
|
|
NM_153676.4(USH1C):c.497-2A>G
|
|
|
NM_153676.4(USH1C):c.497_498delAC (p.Ile167fs)
|
rs1850715505
|
|
NM_153676.4(USH1C):c.521+1G>A
|
rs2497189770
|
|
NM_153676.4(USH1C):c.541del (p.Thr181fs)
|
rs2497187090
|
|
NM_153676.4(USH1C):c.544T>C (p.Trp182Arg)
|
|
|
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
|
rs2497187064
|
|
NM_153676.4(USH1C):c.560del (p.Gln187fs)
|
rs1850697098
|
|
NM_153676.4(USH1C):c.579+1G>A
|
rs1283092935
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.579+2T>C
|
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+1del
|
rs1554961872
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.675-1G>T
|
rs2497171137
|
|
NM_153676.4(USH1C):c.70del (p.Asp24fs)
|
rs2497241574
|
|
NM_153676.4(USH1C):c.711del (p.Phe237fs)
|
rs1427085382
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.760-1G>C
|
rs1187887456
|
|
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
|
rs2497163229
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
|
rs2497241282
|
|
NM_153676.4(USH1C):c.820-2A>T
|
rs200702266
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
|
rs2497241170
|
|
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
|
rs2497241170
|
|
NM_153676.4(USH1C):c.876+2T>C
|
rs2133878965
|
|
NM_153676.4(USH1C):c.876+2_876+19del
|
|
|
NM_153676.4(USH1C):c.876+2_876+3del
|
|
|
NM_153676.4(USH1C):c.877-2A>C
|
rs2497156629
|
|
NM_153676.4(USH1C):c.877-2A>G
|
rs2497156629
|
|
NM_153676.4(USH1C):c.878_882delinsA (p.Gly293fs)
|
|
|
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
|
rs2497156421
|
|
NM_153676.4(USH1C):c.912_934dup (p.Leu312fs)
|
|
|
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
|
rs2497155760
|
|
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
|
rs2497155958
|
|
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
|
rs2497155607
|
|
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs)
|
rs761465345
|
|
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
|
rs2497155740
|
|
NP_005700.2(USH1C):p.Arg357Trp
|
|
|