NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn)
|
rs747578300
|
0.00002
|
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp)
|
rs764113446
|
0.00001
|
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu)
|
rs1660298900
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.3812-2A>G
|
rs758733024
|
0.00001
|
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs)
|
rs1064797133
|
|
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr)
|
rs1553261461
|
|
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val)
|
rs1259758261
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)
|
rs1657992030
|
|
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
|
rs1657965422
|
|
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)
|
rs1064797130
|
|
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
|
rs1234273599
|
|
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu)
|
rs755099565
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
|
rs1657799383
|
|
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)
|
rs1064797129
|
|
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter)
|
rs948087886
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer)
|
rs1656646424
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)
|
rs2036152207
|
|
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser)
|
rs2036149054
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg)
|
rs1171264735
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser)
|
rs1064797137
|
|
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)
|
rs2034850724
|
|
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
|
rs2034849647
|
|
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)
|
rs1553312493
|
|
NM_206933.4(USH2A):c.4628-2A>G
|
rs2032462132
|
|
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro)
|
rs1558251712
|
|
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu)
|
rs1558251710
|
|
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala)
|
rs1558251708
|
|
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val)
|
rs760543320
|
|
NM_206933.4(USH2A):c.55del (p.Met19fs)
|
rs2039692173
|
|
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
|
rs2039616380
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
|
rs2038569132
|
|
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr)
|
rs1421761057
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu)
|
rs1667316070
|
|
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter)
|
rs1664490756
|
|
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
|
rs1662772955
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|