NM_153676.4(USH1C):c.2656-260A>G
|
rs7108947
|
0.95611
|
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.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.*186C>T
|
rs1055577
|
0.43773
|
NM_153676.4(USH1C):c.1085+21C>G
|
rs2240488
|
0.43168
|
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.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.1414-34G>A
|
rs2237964
|
0.16591
|
NM_153676.4(USH1C):c.2490+12G>C
|
rs2072232
|
0.12422
|
NM_153676.4(USH1C):c.2381-46G>A
|
rs2072233
|
0.10738
|
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.2226+12C>T
|
rs17703528
|
0.05274
|
NM_153676.4(USH1C):c.2134-12T>C
|
rs76769358
|
0.04923
|
NM_153676.4(USH1C):c.1770C>T (p.Ala590=)
|
rs17776775
|
0.03494
|
NM_153676.4(USH1C):c.651A>G (p.Val217=)
|
rs75977878
|
0.02584
|
NM_153676.4(USH1C):c.294C>T (p.Leu98=)
|
rs34055234
|
0.02295
|
NM_153676.4(USH1C):c.-60T>C
|
rs371444878
|
0.01736
|
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser)
|
rs115931035
|
0.01559
|
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.819+10G>C
|
rs41282936
|
0.01105
|
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)
|
rs34581703
|
0.00789
|
NM_153676.4(USH1C):c.*405C>G
|
rs11827649
|
0.00654
|
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_005709.4(USH1C):c.1243G>A (p.Ala415Thr)
|
rs116996553
|
0.00479
|
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.381G>T (p.Gly127=)
|
rs41282942
|
0.00290
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
NM_153676.4(USH1C):c.-71T>G
|
rs571065113
|
0.00109
|
NM_153676.4(USH1C):c.*241C>G
|
rs551263680
|
0.00091
|
NM_153676.4(USH1C):c.114C>T (p.Asp38=)
|
rs137962152
|
0.00081
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
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.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
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.2487C>T (p.Gly829=)
|
rs142801489
|
0.00029
|
NM_153676.4(USH1C):c.275G>A (p.Arg92His)
|
rs147954324
|
0.00024
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)
|
rs138123405
|
0.00019
|
NM_153676.4(USH1C):c.186T>C (p.Ile62=)
|
rs200239508
|
0.00018
|
NM_153676.4(USH1C):c.*117C>G
|
rs534567723
|
0.00017
|
NM_153676.4(USH1C):c.*427T>C
|
rs1216254308
|
0.00016
|
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=)
|
rs377439949
|
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_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
NM_153676.4(USH1C):c.2617G>A (p.Val873Met)
|
rs201533059
|
0.00014
|
NM_153676.4(USH1C):c.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.*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_153676.4(USH1C):c.1414-2_1414-1insCTG
|
rs769675063
|
0.00010
|
NM_153676.4(USH1C):c.1199G>A (p.Arg400His)
|
rs750721690
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
NM_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.2590C>T (p.Arg864Ter)
|
rs767767573
|
0.00008
|
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_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.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.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_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_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.760-1G>T
|
rs1187887456
|
0.00004
|
NM_153676.4(USH1C):c.781G>A (p.Val261Ile)
|
rs749119650
|
0.00004
|
NM_153676.4(USH1C):c.864T>G (p.Ile288Met)
|
rs754717329
|
0.00004
|
NM_153676.4(USH1C):c.121G>A (p.Val41Met)
|
rs780439529
|
0.00003
|
NM_153676.4(USH1C):c.1548G>A (p.Pro516=)
|
rs780428813
|
0.00003
|
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys)
|
rs117171411
|
0.00003
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247
|
0.00003
|
NM_153676.4(USH1C):c.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_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.216G>A (p.Val72=)
|
rs151045328
|
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.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_005709.4(USH1C):c.1236C>T (p.Leu412=)
|
rs755834769
|
0.00001
|
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)
|
rs977658619
|
0.00001
|
NM_153676.4(USH1C):c.*131G>C
|
rs550402400
|
0.00001
|
NM_153676.4(USH1C):c.*140C>T
|
rs886048058
|
0.00001
|
NM_153676.4(USH1C):c.-109A>T
|
rs556793498
|
0.00001
|
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln)
|
rs765571023
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691
|
0.00001
|
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
|
rs746789590
|
0.00001
|
NM_153676.4(USH1C):c.1101A>G (p.Glu367=)
|
rs764975771
|
0.00001
|
NM_153676.4(USH1C):c.1210+5G>A
|
rs372285784
|
0.00001
|
NM_153676.4(USH1C):c.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.1531-11A>G
|
rs397517872
|
0.00001
|
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)
|
rs778703128
|
0.00001
|
NM_153676.4(USH1C):c.164G>A (p.Arg55His)
|
rs1042393529
|
0.00001
|
NM_153676.4(USH1C):c.1824del (p.Pro609fs)
|
rs1389725640
|
0.00001
|
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val)
|
rs727505187
|
0.00001
|
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp)
|
rs375741564
|
0.00001
|
NM_153676.4(USH1C):c.192G>A (p.Pro64=)
|
rs1040470628
|
0.00001
|
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro)
|
rs1186965957
|
0.00001
|
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)
|
rs369369849
|
0.00001
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2270G>A (p.Arg757His)
|
rs753703742
|
0.00001
|
NM_153676.4(USH1C):c.2280+15G>A
|
rs886048059
|
0.00001
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529
|
0.00001
|
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe)
|
rs140313023
|
0.00001
|
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser)
|
rs727505083
|
0.00001
|
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe)
|
rs1309991987
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.2378A>G (p.His793Arg)
|
rs868121889
|
0.00001
|
NM_153676.4(USH1C):c.2400C>T (p.Asp800=)
|
rs139787873
|
0.00001
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
0.00001
|
NM_153676.4(USH1C):c.2490+6A>C
|
rs1456998238
|
0.00001
|
NM_153676.4(USH1C):c.2541T>C (p.Asp847=)
|
rs1849262183
|
0.00001
|
NM_153676.4(USH1C):c.2547-1G>T
|
rs571304936
|
0.00001
|
NM_153676.4(USH1C):c.2656-1G>A
|
rs747133793
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys)
|
rs747960087
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_153676.4(USH1C):c.497-3C>A
|
rs958295779
|
0.00001
|
NM_153676.4(USH1C):c.538C>G (p.Leu180Val)
|
rs747331051
|
0.00001
|
NM_153676.4(USH1C):c.582C>T (p.Gly194=)
|
rs397517882
|
0.00001
|
NM_153676.4(USH1C):c.600C>T (p.Gly200=)
|
rs748975874
|
0.00001
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.789C>G (p.Gly263=)
|
rs376197674
|
0.00001
|
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln)
|
rs756485601
|
0.00001
|
NM_153676.4(USH1C):c.870T>A (p.Ala290=)
|
rs765955209
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln)
|
rs773481791
|
0.00001
|
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys)
|
rs200127622
|
0.00001
|
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp)
|
rs749821587
|
0.00001
|
NM_153676.4(USH1C):c.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_005709.4(USH1C):c.1218G>T (p.Gln406His)
|
rs928672021
|
|
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)
|
rs143923730
|
|
NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala)
|
rs143923730
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg)
|
rs746527367
|
|
NM_005709.4(USH1C):c.1284+6880del
|
rs745622612
|
|
NM_153676.4(USH1C):c.*419_*420insAACA
|
rs10626485
|
|
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.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.104+2T>C
|
|
|
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp)
|
rs1850407138
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960
|
|
NM_153676.4(USH1C):c.1085+7A>G
|
rs1025205332
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter)
|
rs1554959148
|
|
NM_153676.4(USH1C):c.1261-34C>T
|
rs2190454
|
|
NM_153676.4(USH1C):c.1265del (p.Gly422fs)
|
rs1554957912
|
|
NM_153676.4(USH1C):c.127G>A (p.Val43Met)
|
rs145500807
|
|
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1])
|
rs1554957867
|
|
NM_153676.4(USH1C):c.135C>T (p.Asp45=)
|
rs140319839
|
|
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter)
|
rs148115969
|
|
NM_153676.4(USH1C):c.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.1840C>T (p.Gln614Ter)
|
rs1554956913
|
|
NM_153676.4(USH1C):c.1840del (p.Gln614fs)
|
rs1554956916
|
|
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter)
|
rs778700091
|
|
NM_153676.4(USH1C):c.1956_1957del (p.His652fs)
|
rs766725582
|
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs)
|
rs1554956821
|
|
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)
|
rs1850975781
|
|
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter)
|
rs139116036
|
|
NM_153676.4(USH1C):c.2134-22dup
|
rs397848183
|
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232
|
|
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr)
|
rs200182990
|
|
NM_153676.4(USH1C):c.2227-1G>A
|
rs778110397
|
|
NM_153676.4(USH1C):c.225T>C (p.Asp75=)
|
rs111033279
|
|
NM_153676.4(USH1C):c.2265C>G (p.Leu755=)
|
rs151251262
|
|
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
|
|
|
NM_153676.4(USH1C):c.2280+2T>C
|
rs1554954681
|
|
NM_153676.4(USH1C):c.2281-1G>A
|
rs1554954574
|
|
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)
|
rs775036726
|
|
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn)
|
rs1019237939
|
|
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
|
|
|
NM_153676.4(USH1C):c.2374C>A (p.Arg792=)
|
rs200428926
|
|
NM_153676.4(USH1C):c.2380+1G>C
|
rs1060499916
|
|
NM_153676.4(USH1C):c.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly)
|
rs774005703
|
|
NM_153676.4(USH1C):c.238C>T (p.Arg80Trp)
|
rs774005703
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
|
|
|
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
|
|
|
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+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.2528dup (p.Glu844fs)
|
rs1554953360
|
|
NM_153676.4(USH1C):c.2546+125A>G
|
rs2072229
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.263del (p.Val88fs)
|
rs1850961650
|
|
NM_153676.4(USH1C):c.2655+12G>A
|
rs727504552
|
|
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del)
|
rs1474458620
|
|
NM_153676.4(USH1C):c.2681del (p.Gly894fs)
|
rs1554952757
|
|
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs)
|
rs1554952752
|
|
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
|
|
|
NM_153676.4(USH1C):c.324T>C (p.Phe108=)
|
rs549758189
|
|
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
|
|
|
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.36+1G>T
|
rs1403777293
|
|
NM_153676.4(USH1C):c.387+1G>A
|
|
|
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.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148
|
|
NM_153676.4(USH1C):c.496+33=
|
rs12795083
|
|
NM_153676.4(USH1C):c.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.546G>A (p.Trp182Ter)
|
|
|
NM_153676.4(USH1C):c.567G>T (p.Val189=)
|
rs1850696503
|
|
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)
|
rs200319849
|
|
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)
|
rs200319849
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)
|
rs770543827
|
|
NM_153676.4(USH1C):c.634G>A (p.Val212Ile)
|
rs886048060
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+1del
|
rs1554961872
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
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.777del (p.Glu260fs)
|
|
|
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)
|
rs876657624
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
|
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
|
|
|
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
|
|
|
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
|
|
|
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)
|
rs574790229
|
|
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
|
|
|
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
|
rs1554960929
|
|
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
|
|
|
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs)
|
rs761465345
|
|
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
|
|
|
NP_005700.2(USH1C):p.Arg357Trp
|
|
|