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.760-1G>T
|
rs1187887456
|
0.00004
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
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.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.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.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
|
|
|
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
|
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
|
|
|
NM_153676.4(USH1C):c.104+5G>C
|
rs2133927984
|
|
NM_153676.4(USH1C):c.105-2A>G
|
|
|
NM_153676.4(USH1C):c.1086-1G>T
|
|
|
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
|
|
|
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
|
|
|
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
|
|
|
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
|
|
|
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.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2185-1G>A
|
|
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232
|
|
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.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.2381-7_2381del
|
|
|
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
|
|
|
NM_153676.4(USH1C):c.249-1G>A
|
|
|
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.2520C>A (p.Cys840Ter)
|
|
|
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)
|
|
|
NM_153676.4(USH1C):c.2546+1G>A
|
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
|
|
|
NM_153676.4(USH1C):c.36+1G>A
|
rs1403777293
|
|
NM_153676.4(USH1C):c.37-1G>C
|
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)
|
rs1565058763
|
|
NM_153676.4(USH1C):c.541del (p.Thr181fs)
|
|
|
NM_153676.4(USH1C):c.579+1G>A
|
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
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.70del (p.Asp24fs)
|
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
|
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.877-2A>G
|
|
|
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
|
|
|