NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
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.1906C>T (p.Arg636Cys)
|
rs149510892
|
0.00134
|
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.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
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.275G>A (p.Arg92His)
|
rs147954324
|
0.00024
|
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln)
|
rs187147906
|
0.00022
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
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.1591C>T (p.Arg531Cys)
|
rs140528164
|
0.00018
|
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.1399C>T (p.Arg467Trp)
|
rs138996642
|
0.00017
|
NM_153676.4(USH1C):c.*427T>C
|
rs1216254308
|
0.00016
|
NM_153676.4(USH1C):c.1889T>C (p.Leu630Pro)
|
rs377002861
|
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.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.2566G>A (p.Val856Ile)
|
rs201308481
|
0.00009
|
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)
|
rs371856107
|
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.587G>A (p.Arg196Gln)
|
rs397517883
|
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.1678G>C (p.Ala560Pro)
|
rs367952604
|
0.00006
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)
|
rs377510653
|
0.00006
|
NM_153676.4(USH1C):c.66G>A (p.Glu22=)
|
rs768165881
|
0.00006
|
NM_153676.4(USH1C):c.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.1234G>A (p.Asp412Asn)
|
rs727503712
|
0.00005
|
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)
|
rs201104489
|
0.00005
|
NM_153676.4(USH1C):c.2310C>T (p.Gly770=)
|
rs375492038
|
0.00005
|
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
|
rs199729381
|
0.00005
|
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys)
|
rs141771249
|
0.00005
|
NM_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.464G>C (p.Arg155Pro)
|
rs142730611
|
0.00004
|
NM_153676.4(USH1C):c.540C>T (p.Leu180=)
|
rs145510974
|
0.00004
|
NM_153676.4(USH1C):c.579+8C>T
|
rs368634906
|
0.00004
|
NM_153676.4(USH1C):c.781G>A (p.Val261Ile)
|
rs749119650
|
0.00004
|
NM_153676.4(USH1C):c.864T>G (p.Ile288Met)
|
rs754717329
|
0.00004
|
NM_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.163C>T (p.Arg55Cys)
|
rs117171411
|
0.00003
|
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu)
|
rs747675437
|
0.00003
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247
|
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.2374C>T (p.Arg792Trp)
|
rs200428926
|
0.00003
|
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)
|
rs397517878
|
0.00003
|
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala)
|
rs200779709
|
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_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.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.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.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.583G>A (p.Val195Met)
|
rs760703501
|
0.00002
|
NM_153676.4(USH1C):c.614G>A (p.Arg205Gln)
|
rs777321803
|
0.00002
|
NM_153676.4(USH1C):c.778G>A (p.Glu260Lys)
|
rs369461618
|
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.1255G>A (p.Asp419Asn)
|
rs977658619
|
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.105G>C (p.Gln35His)
|
rs369151395
|
0.00001
|
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
|
rs746789590
|
0.00001
|
NM_153676.4(USH1C):c.1085A>G (p.Gln362Arg)
|
rs970072244
|
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.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.1476G>T (p.Arg492Ser)
|
rs765918184
|
0.00001
|
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp)
|
rs868001349
|
0.00001
|
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser)
|
rs775363189
|
0.00001
|
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)
|
rs778703128
|
0.00001
|
NM_153676.4(USH1C):c.1570C>T (p.Pro524Ser)
|
rs576189967
|
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.1942G>A (p.Glu648Lys)
|
rs368729447
|
0.00001
|
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro)
|
rs1186965957
|
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.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
NM_153676.4(USH1C):c.2270G>A (p.Arg757His)
|
rs753703742
|
0.00001
|
NM_153676.4(USH1C):c.2280+15G>A
|
rs886048059
|
0.00001
|
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe)
|
rs140313023
|
0.00001
|
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser)
|
rs727505083
|
0.00001
|
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe)
|
rs1309991987
|
0.00001
|
NM_153676.4(USH1C):c.2360G>C (p.Arg787Pro)
|
rs747189986
|
0.00001
|
NM_153676.4(USH1C):c.2378A>G (p.His793Arg)
|
rs868121889
|
0.00001
|
NM_153676.4(USH1C):c.2391G>A (p.Val797=)
|
rs375973884
|
0.00001
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
0.00001
|
NM_153676.4(USH1C):c.248+6G>A
|
rs368224880
|
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.2577C>A (p.Ser859Arg)
|
rs199827989
|
0.00001
|
NM_153676.4(USH1C):c.2656-1G>A
|
rs747133793
|
0.00001
|
NM_153676.4(USH1C):c.2656-3C>T
|
rs1219323712
|
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.424A>G (p.Ile142Val)
|
rs771861342
|
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.481T>C (p.Ser161Pro)
|
rs1260933169
|
0.00001
|
NM_153676.4(USH1C):c.497-3C>A
|
rs958295779
|
0.00001
|
NM_153676.4(USH1C):c.49A>G (p.Ile17Val)
|
rs1179635643
|
0.00001
|
NM_153676.4(USH1C):c.538C>G (p.Leu180Val)
|
rs747331051
|
0.00001
|
NM_153676.4(USH1C):c.600C>T (p.Gly200=)
|
rs748975874
|
0.00001
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934
|
0.00001
|
NM_153676.4(USH1C):c.652G>A (p.Gly218Ser)
|
rs1850672659
|
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.789C>G (p.Gly263=)
|
rs376197674
|
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.881G>A (p.Arg294Gln)
|
rs773481791
|
0.00001
|
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys)
|
rs200127622
|
0.00001
|
NM_153676.4(USH1C):c.892A>C (p.Met298Leu)
|
rs999871420
|
0.00001
|
NM_153676.4(USH1C):c.893T>C (p.Met298Thr)
|
rs1461497965
|
0.00001
|
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp)
|
rs749821587
|
0.00001
|
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
|
rs763948115
|
0.00001
|
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys)
|
rs760448018
|
0.00001
|
NM_153676.4(USH1C):c.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
|
NC_000011.9:g.(?_17519689)_(17523547_?)del
|
|
|
NM_005709.4(USH1C):c.1217A>T (p.Gln406Leu)
|
rs758807447
|
|
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.1237G>A (p.Glu413Lys)
|
|
|
NM_005709.4(USH1C):c.1241C>A (p.Pro414His)
|
|
|
NM_005709.4(USH1C):c.1244C>T (p.Ala415Val)
|
rs1460150108
|
|
NM_005709.4(USH1C):c.1249G>T (p.Asp417Tyr)
|
|
|
NM_005709.4(USH1C):c.1262G>A (p.Gly421Asp)
|
rs2133852863
|
|
NM_005709.4(USH1C):c.1282C>G (p.Gln428Glu)
|
|
|
NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg)
|
rs746527367
|
|
NM_005709.4(USH1C):c.1284+6880del
|
rs745622612
|
|
NM_153676.4(USH1C):c.*95C>T
|
rs552838747
|
|
NM_153676.4(USH1C):c.-15G>C
|
rs1554965975
|
|
NM_153676.4(USH1C):c.-60T>G
|
rs371444878
|
|
NM_153676.4(USH1C):c.1000C>G (p.Gln334Glu)
|
|
|
NM_153676.4(USH1C):c.1007A>G (p.Glu336Gly)
|
|
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
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+3A>T
|
|
|
NM_153676.4(USH1C):c.1042A>G (p.Lys348Glu)
|
|
|
NM_153676.4(USH1C):c.1051G>C (p.Glu351Gln)
|
rs2133870365
|
|
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp)
|
rs1850407138
|
|
NM_153676.4(USH1C):c.105G>T (p.Gln35His)
|
|
|
NM_153676.4(USH1C):c.1066T>C (p.Tyr356His)
|
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960
|
|
NM_153676.4(USH1C):c.1079T>C (p.Met360Thr)
|
|
|
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.1086G>A (p.Gln362=)
|
|
|
NM_153676.4(USH1C):c.1094A>G (p.Glu365Gly)
|
rs2133868538
|
|
NM_153676.4(USH1C):c.1099G>A (p.Glu367Lys)
|
rs2133868490
|
|
NM_153676.4(USH1C):c.1106A>G (p.Lys369Arg)
|
|
|
NM_153676.4(USH1C):c.1151T>C (p.Leu384Pro)
|
|
|
NM_153676.4(USH1C):c.116T>C (p.Val39Ala)
|
|
|
NM_153676.4(USH1C):c.1184A>G (p.His395Arg)
|
|
|
NM_153676.4(USH1C):c.1186C>G (p.Pro396Ala)
|
rs1850381453
|
|
NM_153676.4(USH1C):c.1187C>G (p.Pro396Arg)
|
|
|
NM_153676.4(USH1C):c.1187_1188inv (p.Pro396Leu)
|
|
|
NM_153676.4(USH1C):c.1190T>C (p.Val397Ala)
|
rs1166447896
|
|
NM_153676.4(USH1C):c.1198C>T (p.Arg400Cys)
|
|
|
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter)
|
rs1554959148
|
|
NM_153676.4(USH1C):c.124C>T (p.Leu42Phe)
|
|
|
NM_153676.4(USH1C):c.1260+3A>G
|
|
|
NM_153676.4(USH1C):c.1265del (p.Gly422fs)
|
rs1554957912
|
|
NM_153676.4(USH1C):c.127G>A (p.Val43Met)
|
rs145500807
|
|
NM_153676.4(USH1C):c.127G>T (p.Val43Leu)
|
rs145500807
|
|
NM_153676.4(USH1C):c.128T>G (p.Val43Gly)
|
rs1013399574
|
|
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1])
|
rs1554957867
|
|
NM_153676.4(USH1C):c.135C>A (p.Asp45Glu)
|
|
|
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.142C>G (p.Leu48Val)
|
|
|
NM_153676.4(USH1C):c.145G>C (p.Val49Leu)
|
|
|
NM_153676.4(USH1C):c.1471G>A (p.Glu491Lys)
|
|
|
NM_153676.4(USH1C):c.148A>G (p.Ile50Val)
|
rs1257461261
|
|
NM_153676.4(USH1C):c.14T>G (p.Val5Gly)
|
|
|
NM_153676.4(USH1C):c.1519G>A (p.Glu507Lys)
|
rs962425019
|
|
NM_153676.4(USH1C):c.1531A>C (p.Met511Leu)
|
rs886044610
|
|
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.1574T>C (p.Leu525Pro)
|
rs727504790
|
|
NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr)
|
rs727503711
|
|
NM_153676.4(USH1C):c.158C>G (p.Pro53Arg)
|
|
|
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs)
|
rs758580540
|
|
NM_153676.4(USH1C):c.1699C>T (p.Pro567Ser)
|
rs549628785
|
|
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.1801C>A (p.Pro601Thr)
|
rs727503710
|
|
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.1831G>A (p.Val611Ile)
|
|
|
NM_153676.4(USH1C):c.1831G>T (p.Val611Phe)
|
rs560416690
|
|
NM_153676.4(USH1C):c.1838C>T (p.Thr613Ile)
|
rs146191588
|
|
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter)
|
rs778700091
|
|
NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser)
|
rs754365594
|
|
NM_153676.4(USH1C):c.1944G>T (p.Glu648Asp)
|
rs1213612823
|
|
NM_153676.4(USH1C):c.1956_1957del (p.His652fs)
|
rs766725582
|
|
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs)
|
rs1554956821
|
|
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)
|
rs1850975781
|
|
NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser)
|
rs397517873
|
|
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter)
|
rs139116036
|
|
NM_153676.4(USH1C):c.20G>A (p.Arg7Gln)
|
|
|
NM_153676.4(USH1C):c.210C>G (p.His70Gln)
|
|
|
NM_153676.4(USH1C):c.2122T>C (p.Ser708Pro)
|
|
|
NM_153676.4(USH1C):c.214G>A (p.Val72Met)
|
|
|
NM_153676.4(USH1C):c.2215_2216delinsAA (p.Pro739Asn)
|
|
|
NM_153676.4(USH1C):c.2224A>G (p.Met742Val)
|
|
|
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr)
|
rs200182990
|
|
NM_153676.4(USH1C):c.2226+3A>G
|
|
|
NM_153676.4(USH1C):c.2231C>T (p.Thr744Ile)
|
|
|
NM_153676.4(USH1C):c.2237A>C (p.Glu746Ala)
|
|
|
NM_153676.4(USH1C):c.2246T>C (p.Met749Thr)
|
|
|
NM_153676.4(USH1C):c.2261G>A (p.Arg754Gln)
|
|
|
NM_153676.4(USH1C):c.2265C>G (p.Leu755=)
|
rs151251262
|
|
NM_153676.4(USH1C):c.2270G>T (p.Arg757Leu)
|
|
|
NM_153676.4(USH1C):c.2280+10C>T
|
|
|
NM_153676.4(USH1C):c.2281-4C>G
|
|
|
NM_153676.4(USH1C):c.2295C>G (p.Asp765Glu)
|
|
|
NM_153676.4(USH1C):c.2299G>T (p.Ala767Ser)
|
rs747220783
|
|
NM_153676.4(USH1C):c.2300C>T (p.Ala767Val)
|
|
|
NM_153676.4(USH1C):c.2302C>A (p.Leu768Met)
|
rs876658110
|
|
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)
|
rs775036726
|
|
NM_153676.4(USH1C):c.2326A>T (p.Ile776Phe)
|
rs1186647324
|
|
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn)
|
rs1019237939
|
|
NM_153676.4(USH1C):c.2344T>G (p.Ser782Ala)
|
rs2133783931
|
|
NM_153676.4(USH1C):c.2348C>T (p.Ala783Val)
|
|
|
NM_153676.4(USH1C):c.2351T>C (p.Val784Ala)
|
|
|
NM_153676.4(USH1C):c.2359C>T (p.Arg787Trp)
|
|
|
NM_153676.4(USH1C):c.2360G>A (p.Arg787Gln)
|
|
|
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+1G>C
|
rs1060499916
|
|
NM_153676.4(USH1C):c.2380+4A>G
|
|
|
NM_153676.4(USH1C):c.2386A>G (p.Ile796Val)
|
rs953438071
|
|
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.2395G>A (p.Gly799Arg)
|
|
|
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2408T>C (p.Met803Thr)
|
|
|
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.2431_2451del (p.Thr811_Glu817del)
|
rs779253356
|
|
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)
|
rs1849309216
|
|
NM_153676.4(USH1C):c.2443C>A (p.Leu815Met)
|
rs148477093
|
|
NM_153676.4(USH1C):c.244T>C (p.Ser82Pro)
|
rs2133919543
|
|
NM_153676.4(USH1C):c.2457delinsCGCTGAC (p.Glu819delinsAspAlaAsp)
|
|
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971
|
|
NM_153676.4(USH1C):c.2462C>G (p.Ala821Gly)
|
|
|
NM_153676.4(USH1C):c.2474C>G (p.Ala825Gly)
|
rs1565018184
|
|
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.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2500G>A (p.Asp834Asn)
|
|
|
NM_153676.4(USH1C):c.2503C>T (p.Leu835Phe)
|
|
|
NM_153676.4(USH1C):c.2513C>T (p.Ala838Val)
|
|
|
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.2528dup (p.Glu844fs)
|
rs1554953360
|
|
NM_153676.4(USH1C):c.2540A>G (p.Asp847Gly)
|
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.2546+4A>C
|
|
|
NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu)
|
rs876658112
|
|
NM_153676.4(USH1C):c.2657A>G (p.Asp886Gly)
|
|
|
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.2695C>G (p.Arg899Gly)
|
rs757572697
|
|
NM_153676.4(USH1C):c.2696G>A (p.Arg899His)
|
|
|
NM_153676.4(USH1C):c.274C>A (p.Arg92Ser)
|
rs775407483
|
|
NM_153676.4(USH1C):c.281A>G (p.His94Arg)
|
|
|
NM_153676.4(USH1C):c.295G>A (p.Gly99Ser)
|
|
|
NM_153676.4(USH1C):c.295G>T (p.Gly99Cys)
|
rs370054635
|
|
NM_153676.4(USH1C):c.307C>A (p.Arg103Ser)
|
rs397517880
|
|
NM_153676.4(USH1C):c.308G>C (p.Arg103Pro)
|
|
|
NM_153676.4(USH1C):c.326G>A (p.Gly109Asp)
|
|
|
NM_153676.4(USH1C):c.326G>T (p.Gly109Val)
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NM_153676.4(USH1C):c.332G>T (p.Gly111Val)
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rs1850955520
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NM_153676.4(USH1C):c.341T>C (p.Ile114Thr)
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rs767655370
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NM_153676.4(USH1C):c.358G>A (p.Gly120Ser)
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rs1850953775
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NM_153676.4(USH1C):c.368C>G (p.Ala123Gly)
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NM_153676.4(USH1C):c.37-3C>T
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NM_153676.4(USH1C):c.372C>G (p.Asp124Glu)
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NM_153676.4(USH1C):c.376G>A (p.Val126Ile)
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rs1280648795
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NM_153676.4(USH1C):c.387+5G>C
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NM_153676.4(USH1C):c.387+6C>A
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NM_153676.4(USH1C):c.389T>C (p.Val130Ala)
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rs1421385034
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NM_153676.4(USH1C):c.397G>A (p.Glu133Lys)
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NM_153676.4(USH1C):c.405C>G (p.Val135=)
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rs762298047
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NM_153676.4(USH1C):c.409A>G (p.Ile137Val)
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rs1850747142
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NM_153676.4(USH1C):c.412A>G (p.Asn138Asp)
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rs1850746868
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NM_153676.4(USH1C):c.419A>C (p.Tyr140Ser)
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rs775231512
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NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)
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NM_153676.4(USH1C):c.436A>G (p.Thr146Ala)
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NM_153676.4(USH1C):c.448G>A (p.Val150Ile)
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rs1850744294
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NM_153676.4(USH1C):c.496+6T>C
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NM_153676.4(USH1C):c.496+6T>G
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NM_153676.4(USH1C):c.501C>T (p.Ile167=)
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rs1382747364
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NM_153676.4(USH1C):c.502G>C (p.Gly168Arg)
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NM_153676.4(USH1C):c.503G>C (p.Gly168Ala)
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NM_153676.4(USH1C):c.506T>C (p.Leu169Pro)
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NM_153676.4(USH1C):c.514G>A (p.Val172Met)
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NM_153676.4(USH1C):c.514G>T (p.Val172Leu)
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rs748703138
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NM_153676.4(USH1C):c.526C>G (p.Pro176Ala)
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NM_153676.4(USH1C):c.527C>T (p.Pro176Leu)
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rs1461558857
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NM_153676.4(USH1C):c.530A>G (p.Asp177Gly)
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rs1850699098
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NM_153676.4(USH1C):c.535C>A (p.Pro179Thr)
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rs2133895786
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NM_153676.4(USH1C):c.551A>C (p.Tyr184Ser)
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NM_153676.4(USH1C):c.554T>G (p.Val185Gly)
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NM_153676.4(USH1C):c.556G>A (p.Asp186Asn)
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NM_153676.4(USH1C):c.567G>T (p.Val189=)
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rs1850696503
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NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)
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rs200319849
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NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)
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rs200319849
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NM_153676.4(USH1C):c.579+5G>A
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rs1850695435
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NM_153676.4(USH1C):c.594C>G (p.Ser198Arg)
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NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)
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rs770543827
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NM_153676.4(USH1C):c.601T>C (p.Ser201Pro)
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NM_153676.4(USH1C):c.610A>C (p.Asn204His)
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NM_153676.4(USH1C):c.614G>C (p.Arg205Pro)
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rs777321803
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NM_153676.4(USH1C):c.627G>C (p.Glu209Asp)
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NM_153676.4(USH1C):c.634G>A (p.Val212Ile)
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rs886048060
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NM_153676.4(USH1C):c.650T>A (p.Val217Glu)
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NM_153676.4(USH1C):c.650T>C (p.Val217Ala)
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NM_153676.4(USH1C):c.653G>T (p.Gly218Val)
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NM_153676.4(USH1C):c.658C>G (p.Arg220Gly)
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rs766327614
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NM_153676.4(USH1C):c.659G>A (p.Arg220Gln)
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rs754055631
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NM_153676.4(USH1C):c.671G>A (p.Cys224Tyr)
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NM_153676.4(USH1C):c.673A>G (p.Ser225Gly)
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NM_153676.4(USH1C):c.700C>T (p.Pro234Ser)
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NM_153676.4(USH1C):c.701C>T (p.Pro234Leu)
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rs1554961433
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NM_153676.4(USH1C):c.734C>G (p.Ser245Cys)
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NM_153676.4(USH1C):c.742G>T (p.Ala248Ser)
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NM_153676.4(USH1C):c.760A>C (p.Ile254Leu)
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NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
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rs267602805
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NM_153676.4(USH1C):c.776T>G (p.Val259Gly)
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rs772108970
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NM_153676.4(USH1C):c.808G>T (p.Asp270Tyr)
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|
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NM_153676.4(USH1C):c.818A>T (p.Glu273Val)
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rs2133880564
|
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NM_153676.4(USH1C):c.830T>G (p.Val277Gly)
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NM_153676.4(USH1C):c.838A>C (p.Ser280Arg)
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NM_153676.4(USH1C):c.863T>C (p.Ile288Thr)
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rs1850498077
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NM_153676.4(USH1C):c.876T>C (p.Ala292=)
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NM_153676.4(USH1C):c.877-3G>C
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NM_153676.4(USH1C):c.885G>T (p.Glu295Asp)
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NM_153676.4(USH1C):c.896C>T (p.Thr299Ile)
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NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)
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rs574790229
|
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NM_153676.4(USH1C):c.902G>A (p.Arg301Gln)
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NM_153676.4(USH1C):c.913G>A (p.Ala305Thr)
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rs1187754133
|
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NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
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rs1554960929
|
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NM_153676.4(USH1C):c.920C>T (p.Ala307Val)
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|
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NM_153676.4(USH1C):c.922C>G (p.Arg308Gly)
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NM_153676.4(USH1C):c.929G>A (p.Arg310His)
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NM_153676.4(USH1C):c.940C>T (p.Arg314Trp)
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NM_153676.4(USH1C):c.941G>A (p.Arg314Gln)
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NM_153676.4(USH1C):c.949C>A (p.Leu317Ile)
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NM_153676.4(USH1C):c.956T>G (p.Met319Arg)
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NM_153676.4(USH1C):c.95T>C (p.Met32Thr)
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NM_153676.4(USH1C):c.96G>A (p.Met32Ile)
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NM_153676.4(USH1C):c.976G>A (p.Glu326Lys)
|
rs2133876297
|
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NM_153676.4(USH1C):c.984C>G (p.Asn328Lys)
|
|
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NM_153676.4(USH1C):c.985A>G (p.Lys329Glu)
|
rs1850472072
|
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NM_153676.4(USH1C):c.988A>T (p.Ile330Phe)
|
rs767460132
|
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