NM_004004.6(GJB2):c.*111C>T
|
rs7329857
|
0.06802
|
NM_004004.6(GJB2):c.-216T>G
|
rs574815423
|
0.01243
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
0.00129
|
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)
|
rs144417952
|
0.00110
|
NM_000307.5(POU3F4):c.*105C>T
|
rs777244703
|
0.00107
|
NM_000307.5(POU3F4):c.*192T>C
|
rs775863791
|
0.00075
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.*115A>C
|
rs557953001
|
0.00058
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_000307.5(POU3F4):c.753G>A (p.Leu251=)
|
rs779713849
|
0.00013
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_000307.5(POU3F4):c.585A>G (p.Glu195=)
|
rs202020213
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_000307.5(POU3F4):c.*22C>G
|
rs201213510
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004004.6(GJB2):c.-1G>A
|
rs768338285
|
0.00006
|
NM_000307.5(POU3F4):c.24C>T (p.Pro8=)
|
rs756362293
|
0.00005
|
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)
|
rs374572413
|
0.00005
|
NM_001110219.3(GJB6):c.396G>A (p.Leu132=)
|
rs189971962
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
|
rs765172751
|
0.00004
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
0.00004
|
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)
|
rs374625633
|
0.00004
|
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)
|
rs770657036
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.195C>T (p.Tyr65=)
|
rs763572195
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_000307.5(POU3F4):c.*297T>C
|
rs1297004201
|
0.00002
|
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg)
|
rs773169987
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val)
|
rs1354177998
|
0.00001
|
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)
|
rs750540794
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)
|
rs751440971
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
|
rs781085903
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)
|
rs375759781
|
0.00001
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
0.00001
|
NM_004004.6(GJB2):c.512C>T (p.Ala171Val)
|
rs1555341850
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_000307.5(POU3F4):c.*141T>C
|
rs368408951
|
|
NM_000307.5(POU3F4):c.*41C>A
|
rs1057516008
|
|
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)
|
rs104894922
|
|
NM_000307.5(POU3F4):c.1060del (p.Thr354fs)
|
rs398122517
|
|
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
|
|
|
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter)
|
rs1454033665
|
|
NM_000307.5(POU3F4):c.220del (p.Ser74fs)
|
|
|
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter)
|
rs878853242
|
|
NM_000307.5(POU3F4):c.249dup (p.Gly84fs)
|
rs1569280138
|
|
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
|
|
|
NM_000307.5(POU3F4):c.340dup (p.Trp114fs)
|
rs2147996471
|
|
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)
|
rs1178113212
|
|
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter)
|
rs104894920
|
|
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs)
|
rs876657719
|
|
NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)
|
|
|
NM_000307.5(POU3F4):c.609_610del (p.Arg204fs)
|
rs2147996672
|
|
NM_000307.5(POU3F4):c.648del (p.Leu217fs)
|
rs1555984570
|
|
NM_000307.5(POU3F4):c.65_66del (p.Ser22fs)
|
rs2147996200
|
|
NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter)
|
rs1199790524
|
|
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr)
|
rs397516335
|
|
NM_000307.5(POU3F4):c.708= (p.Glu236=)
|
rs5921978
|
|
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)
|
|
|
NM_000307.5(POU3F4):c.710= (p.Ala237=)
|
rs5921979
|
|
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
|
|
|
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
|
|
|
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)
|
|
|
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)
|
rs1060499806
|
|
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)
|
rs397516336
|
|
NM_000307.5(POU3F4):c.854T>C (p.Ile285Thr)
|
|
|
NM_000307.5(POU3F4):c.862_865del (p.Val289fs)
|
rs730882189
|
|
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)
|
rs780027419
|
|
NM_000307.5(POU3F4):c.896del (p.Lys299fs)
|
rs267606974
|
|
NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)
|
|
|
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)
|
|
|
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)
|
rs387906502
|
|
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)
|
rs104894921
|
|
NM_000307.5(POU3F4):c.950dup (p.Leu317fs)
|
rs398122516
|
|
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly)
|
rs104894924
|
|
NM_000307.5(POU3F4):c.968G>A (p.Arg323His)
|
rs727505246
|
|
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter)
|
rs1569280385
|
|
NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)
|
|
|
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
|
|
|
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)
|
rs926775037
|
|
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
|
|
|
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser)
|
rs104894923
|
|
NM_001110219.3(GJB6):c.*227dup
|
rs368264636
|
|
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)
|
rs28937872
|
|
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)
|
rs571454176
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)
|
rs727503066
|
|
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)
|
rs878853241
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|