NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
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.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.2547-1G>T
|
rs571304936
|
0.00001
|
NM_153676.4(USH1C):c.375del (p.Ser125fs)
|
rs756032457
|
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.586C>T (p.Arg196Ter)
|
rs1290295453
|
0.00001
|
NM_153676.4(USH1C):c.628A>T (p.Lys210Ter)
|
rs755601799
|
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.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
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.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005709.4(USH1C):c.1225G>T (p.Glu409Ter)
|
rs757625535
|
|
NM_005709.4(USH1C):c.1241_1242dup (p.Ala415fs)
|
rs2133853125
|
|
NM_005709.4(USH1C):c.1270G>T (p.Glu424Ter)
|
rs1244378437
|
|
NM_005709.4(USH1C):c.1277del (p.Gly426fs)
|
|
|
NM_005709.4(USH1C):c.1282C>T (p.Gln428Ter)
|
|
|
NM_153676.4(USH1C):c.1019+5G>C
|
rs1592002789
|
|
NM_153676.4(USH1C):c.1050del (p.Glu351fs)
|
rs2133870386
|
|
NM_153676.4(USH1C):c.1068C>G (p.Tyr356Ter)
|
|
|
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
|
|
|
NM_153676.4(USH1C):c.1099G>T (p.Glu367Ter)
|
rs2133868490
|
|
NM_153676.4(USH1C):c.1107dup (p.Phe370fs)
|
|
|
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.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1188del (p.Val397fs)
|
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153676.4(USH1C):c.183dup (p.Ile62fs)
|
|
|
NM_153676.4(USH1C):c.191del (p.Pro64fs)
|
rs1850976904
|
|
NM_153676.4(USH1C):c.2210_2211dup (p.Asp738fs)
|
|
|
NM_153676.4(USH1C):c.2227-1G>A
|
rs778110397
|
|
NM_153676.4(USH1C):c.2227-2A>G
|
rs2133786425
|
|
NM_153676.4(USH1C):c.2281G>T (p.Glu761Ter)
|
|
|
NM_153676.4(USH1C):c.2380+1G>C
|
rs1060499916
|
|
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.2401G>T (p.Glu801Ter)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2407del (p.Met803fs)
|
|
|
NM_153676.4(USH1C):c.2491-1G>T
|
rs1565017125
|
|
NM_153676.4(USH1C):c.24del (p.Glu8fs)
|
|
|
NM_153676.4(USH1C):c.263del (p.Val88fs)
|
rs1850961650
|
|
NM_153676.4(USH1C):c.348_373del (p.His116fs)
|
rs2133917820
|
|
NM_153676.4(USH1C):c.36+1G>A
|
rs1403777293
|
|
NM_153676.4(USH1C):c.36+1G>T
|
rs1403777293
|
|
NM_153676.4(USH1C):c.364C>T (p.Gln122Ter)
|
rs1850953103
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.480_481del (p.Ser161fs)
|
|
|
NM_153676.4(USH1C):c.491_492del (p.Val164fs)
|
rs1850741468
|
|
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_496+4del
|
|
|
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
|
|
|
NM_153676.4(USH1C):c.547C>T (p.Gln183Ter)
|
|
|
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.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.590del (p.Gly197fs)
|
|
|
NM_153676.4(USH1C):c.658del (p.Arg220fs)
|
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.694C>T (p.Gln232Ter)
|
|
|
NM_153676.4(USH1C):c.695del (p.Gln232fs)
|
|
|
NM_153676.4(USH1C):c.70del (p.Asp24fs)
|
|
|
NM_153676.4(USH1C):c.745G>T (p.Glu249Ter)
|
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.75T>G (p.Tyr25Ter)
|
|
|
NM_153676.4(USH1C):c.777del (p.Glu260fs)
|
|
|
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)
|
rs876657624
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.901del (p.Arg301fs)
|
|
|
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
|
|
|
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs)
|
rs761465345
|
|
NM_153676.4(USH1C):c.948_955del (p.Glu316fs)
|
rs1312118611
|
|