NC_000013.11:g.20192983G>C
|
|
NM_004004.5(GJB2):c.*1447G>A
|
rs11839674
|
NM_004004.5(GJB2):c.-208G>T
|
rs1555342246
|
NM_004004.5(GJB2):c.-216T>G
|
rs574815423
|
NM_004004.5(GJB2):c.-259C>T
|
rs1417111166
|
NM_004004.5(GJB2):c.-260C>T
|
rs886037626
|
NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)
|
|
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs)
|
rs111033335
|
NM_004004.5(GJB2):c.[134G>A;408C>A]
|
|
NM_004004.5(GJB2):c.[79G>A;341A>G]
|
|
NM_004004.6(GJB2):c.*1016A>G
|
rs537683957
|
NM_004004.6(GJB2):c.*1033G>A
|
rs185790172
|
NM_004004.6(GJB2):c.*1040A>G
|
|
NM_004004.6(GJB2):c.*104A>T
|
rs7337074
|
NM_004004.6(GJB2):c.*1067G>T
|
rs9237
|
NM_004004.6(GJB2):c.*111C>T
|
rs7329857
|
NM_004004.6(GJB2):c.*114T>C
|
rs182085649
|
NM_004004.6(GJB2):c.*1152G>A
|
rs7623
|
NM_004004.6(GJB2):c.*115A>C
|
|
NM_004004.6(GJB2):c.*1197T>A
|
rs11841182
|
NM_004004.6(GJB2):c.*1206T>G
|
rs886050026
|
NM_004004.6(GJB2):c.*1277T>C
|
rs7988691
|
NM_004004.6(GJB2):c.*1291_*1294del
|
rs886050025
|
NM_004004.6(GJB2):c.*168A>G
|
rs55704559
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
NM_004004.6(GJB2):c.*236A>T
|
|
NM_004004.6(GJB2):c.*308G>A
|
|
NM_004004.6(GJB2):c.*385G>C
|
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
NM_004004.6(GJB2):c.*412A>C
|
rs547859391
|
NM_004004.6(GJB2):c.*423C>T
|
rs112457424
|
NM_004004.6(GJB2):c.*482A>G
|
rs886050028
|
NM_004004.6(GJB2):c.*4A>G
|
|
NM_004004.6(GJB2):c.*52C>T
|
|
NM_004004.6(GJB2):c.*544T>C
|
rs564755659
|
NM_004004.6(GJB2):c.*550A>G
|
|
NM_004004.6(GJB2):c.*598C>A
|
rs550600399
|
NM_004004.6(GJB2):c.*679T>C
|
|
NM_004004.6(GJB2):c.*786G>A
|
rs187158699
|
NM_004004.6(GJB2):c.*800A>G
|
rs886050027
|
NM_004004.6(GJB2):c.*84T>C
|
rs3751385
|
NM_004004.6(GJB2):c.*931C>T
|
rs5030700
|
NM_004004.6(GJB2):c.*979A>G
|
rs546826225
|
NM_004004.6(GJB2):c.-112A>C
|
rs1555342240
|
NM_004004.6(GJB2):c.-127G>C
|
rs727503068
|
NM_004004.6(GJB2):c.-12C>T
|
|
NM_004004.6(GJB2):c.-15C>T
|
rs72561725
|
NM_004004.6(GJB2):c.-16C>T
|
|
NM_004004.6(GJB2):c.-170C>G
|
|
NM_004004.6(GJB2):c.-173G>C
|
|
NM_004004.6(GJB2):c.-174C>G
|
rs541058463
|
NM_004004.6(GJB2):c.-1G>A
|
|
NM_004004.6(GJB2):c.-22-12C>G
|
rs9578260
|
NM_004004.6(GJB2):c.-22-12C>T
|
rs9578260
|
NM_004004.6(GJB2):c.-22-18T>A
|
rs778602324
|
NM_004004.6(GJB2):c.-22-1G>A
|
rs551625098
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
NM_004004.6(GJB2):c.-22-2A>G
|
rs201895089
|
NM_004004.6(GJB2):c.-22-35G>T
|
rs191461105
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
NM_004004.6(GJB2):c.-22-7T>C
|
|
NM_004004.6(GJB2):c.-23+12G>A
|
rs397516866
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
NM_004004.6(GJB2):c.-263C>G
|
|
NM_004004.6(GJB2):c.-30C>T
|
rs397516867
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
NM_004004.6(GJB2):c.-47C>G
|
rs1555342239
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
NM_004004.6(GJB2):c.-7G>A
|
rs398123813
|
NM_004004.6(GJB2):c.100A>T (p.Met34Leu)
|
rs564084861
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
NM_004004.6(GJB2):c.101T>G (p.Met34Arg)
|
rs35887622
|
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)
|
rs587783644
|
NM_004004.6(GJB2):c.108C>T (p.Leu36=)
|
rs138547875
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
NM_004004.6(GJB2):c.109G>T (p.Val37Phe)
|
rs72474224
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
NM_004004.6(GJB2):c.111_113del (p.Val38del)
|
|
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)
|
rs111033296
|
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)
|
rs111033296
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
NM_004004.6(GJB2):c.11del (p.Gly4fs)
|
rs1555342014
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
NM_004004.6(GJB2):c.122_124AGG[1] (p.Glu42del)
|
rs1566528901
|
NM_004004.6(GJB2):c.128_129TG[1] (p.Trp44fs)
|
rs1555341993
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)
|
rs104894413
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys)
|
rs104894407
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
NM_004004.6(GJB2):c.134del (p.Gly45fs)
|
rs1057517491
|
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn)
|
rs1064797088
|
NM_004004.6(GJB2):c.137_141del (p.Asp46fs)
|
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr)
|
rs28931594
|
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
|
rs781085903
|
NM_004004.6(GJB2):c.154G>C (p.Val52Leu)
|
rs1555341987
|
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg)
|
rs1555341986
|
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)
|
rs587783645
|
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)
|
rs587783645
|
NM_004004.6(GJB2):c.162C>A (p.Asn54Lys)
|
rs104894412
|
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn)
|
rs1064797089
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
NM_004004.6(GJB2):c.171G>A (p.Gln57=)
|
rs1064797175
|
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala)
|
rs1064797090
|
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)
|
rs1064797090
|
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
|
|
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)
|
rs104894410
|
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg)
|
rs104894410
|
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp)
|
rs104894404
|
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala)
|
rs104894404
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
NM_004004.6(GJB2):c.177C>T (p.Gly59=)
|
rs375122728
|
NM_004004.6(GJB2):c.186C>T (p.Asn62=)
|
rs397516869
|
NM_004004.6(GJB2):c.187G>A (p.Val63Met)
|
rs370696868
|
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
NM_004004.6(GJB2):c.193T>C (p.Tyr65His)
|
rs886037849
|
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
|
rs111033203
|
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter)
|
rs763572195
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
|
NM_004004.6(GJB2):c.196G>C (p.Asp66His)
|
rs104894403
|
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr)
|
rs104894403
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
NM_004004.6(GJB2):c.1A>T (p.Met1Leu)
|
rs111033293
|
NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys)
|
rs397516870
|
NM_004004.6(GJB2):c.205T>C (p.Phe69Leu)
|
rs1593351503
|
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr)
|
rs1373154561
|
NM_004004.6(GJB2):c.218A>G (p.His73Arg)
|
rs121912968
|
NM_004004.6(GJB2):c.219C>T (p.His73=)
|
rs727504755
|
NM_004004.6(GJB2):c.21G>A (p.Gln7=)
|
rs137932057
|
NM_004004.6(GJB2):c.221T>C (p.Ile74Thr)
|
|
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)
|
rs104894402
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
NM_004004.6(GJB2):c.226C>G (p.Leu76Val)
|
rs1566528748
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)
|
rs104894395
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser)
|
|
NM_004004.6(GJB2):c.232dup (p.Ala78fs)
|
rs1555341960
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro)
|
rs1555341957
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
NM_004004.6(GJB2):c.239dup (p.Leu81fs)
|
rs1555341954
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)
|
rs145216882
|
NM_004004.6(GJB2):c.244A>G (p.Ile82Val)
|
rs1566528711
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
NM_004004.6(GJB2):c.24G>A (p.Thr8=)
|
rs533231493
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
|
rs104894409
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)
|
rs104894409
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
NM_004004.6(GJB2):c.257C>T (p.Thr86Met)
|
rs1291519904
|
NM_004004.6(GJB2):c.257del (p.Thr86fs)
|
rs1555341949
|
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu)
|
rs1555341946
|
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly)
|
rs1555341945
|
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)
|
rs765921870
|
NM_004004.6(GJB2):c.267C>G (p.Leu89=)
|
rs727503067
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
NM_004004.6(GJB2):c.275C>T (p.Ala92Val)
|
|
NM_004004.6(GJB2):c.276C>T (p.Ala92=)
|
rs1593351392
|
NM_004004.6(GJB2):c.278T>C (p.Met93Thr)
|
rs1461894310
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
NM_004004.6(GJB2):c.280C>T (p.His94Tyr)
|
rs1593351383
|
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs)
|
rs886037625
|
NM_004004.6(GJB2):c.281A>T (p.His94Leu)
|
rs397516872
|
NM_004004.6(GJB2):c.282C>T (p.His94=)
|
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
|
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
NM_004004.6(GJB2):c.294G>C (p.Arg98=)
|
rs1334783390
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
NM_004004.6(GJB2):c.298del (p.His100fs)
|
rs775828835
|
NM_004004.6(GJB2):c.299A>T (p.His100Leu)
|
rs1422767764
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
NM_004004.6(GJB2):c.29T>C (p.Leu10Pro)
|
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
NM_004004.6(GJB2):c.2T>G (p.Met1Arg)
|
rs371086981
|
NM_004004.6(GJB2):c.300T>C (p.His100=)
|
rs1317569039
|
NM_004004.6(GJB2):c.301_303del (p.Glu101del)
|
rs1555341937
|
NM_004004.6(GJB2):c.302_304AGA[2] (p.Lys103del)
|
rs1555341934
|
NM_004004.6(GJB2):c.312G>A (p.Arg104=)
|
rs267603770
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
NM_004004.6(GJB2):c.314_329del (p.Lys105fs)
|
rs797045596
|
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu)
|
rs779358271
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
NM_004004.6(GJB2):c.322A>G (p.Lys108Glu)
|
|
NM_004004.6(GJB2):c.326G>T (p.Gly109Val)
|
|
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs)
|
rs1555341931
|
NM_004004.6(GJB2):c.32_45del (p.Gly11fs)
|
rs1290698257
|
NM_004004.6(GJB2):c.331A>G (p.Ile111Val)
|
rs1003660637
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
NM_004004.6(GJB2):c.338_341dup (p.Phe115_Lys116insTer)
|
rs1555341926
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg)
|
rs104894408
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly)
|
rs111033441
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)
|
rs150529554
|
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del)
|
rs80338947
|
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)
|
rs528216023
|
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)
|
rs1801002
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
NM_004004.6(GJB2):c.362T>C (p.Ile121Thr)
|
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)
|
rs727503066
|
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
|
rs768130937
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
NM_004004.6(GJB2):c.384C>T (p.Ile128=)
|
rs111033298
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)
|
rs397516875
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
NM_004004.6(GJB2):c.38T>G (p.Val13Gly)
|
rs1593351795
|
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)
|
rs878853241
|
NM_004004.6(GJB2):c.401_403del (p.Trp134_Thr135delinsSer)
|
rs1555341910
|
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)
|
rs786204690
|
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp)
|
|
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly)
|
rs397516876
|
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)
|
rs1555341907
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser)
|
rs116769964
|
NM_004004.6(GJB2):c.426C>A (p.Phe142Leu)
|
rs397516877
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
NM_004004.6(GJB2):c.435C>T (p.Ile145=)
|
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del)
|
rs1555341874
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
NM_004004.6(GJB2):c.456C>T (p.Tyr152=)
|
rs111033420
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)
|
rs772264564
|
NM_004004.6(GJB2):c.470T>C (p.Met157Thr)
|
rs727504789
|
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)
|
rs375759781
|
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)
|
rs373684994
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
NM_004004.6(GJB2):c.487A>C (p.Met163Leu)
|
rs80338949
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
NM_004004.6(GJB2):c.488T>C (p.Met163Thr)
|
rs1273330603
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
NM_004004.6(GJB2):c.49_50del (p.Ser17fs)
|
rs1555342007
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys)
|
rs28929485
|
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe)
|
rs28929485
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
NM_004004.6(GJB2):c.512C>T (p.Ala171Val)
|
rs1555341850
|
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)
|
rs770330002
|
NM_004004.6(GJB2):c.514del (p.Trp172fs)
|
rs1057517508
|
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter)
|
|
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)
|
rs1302739538
|
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser)
|
|
NM_004004.6(GJB2):c.518C>T (p.Pro173Leu)
|
rs1555341843
|
NM_004004.6(GJB2):c.51C>T (p.Ser17=)
|
|
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)
|
rs886037624
|
NM_004004.6(GJB2):c.523_533del (p.Pro175fs)
|
rs876657693
|
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp)
|
rs781767722
|
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser)
|
rs1555341840
|
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)
|
rs1275901105
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn)
|
rs28931595
|
NM_004004.6(GJB2):c.535G>C (p.Asp179His)
|
rs28931595
|
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser)
|
rs1566529035
|
NM_004004.6(GJB2):c.546G>A (p.Val182=)
|
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
|
|
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)
|
rs1451982228
|
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)
|
rs1566528185
|
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)
|
rs1131691709
|
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)
|
rs770116143
|
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn)
|
rs199790409
|
NM_004004.6(GJB2):c.569T>A (p.Val190Asp)
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
NM_004004.6(GJB2):c.573_574CA[1] (p.Thr192fs)
|
rs1057517521
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
NM_004004.6(GJB2):c.582C>T (p.Phe194=)
|
rs794727271
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
NM_004004.6(GJB2):c.585G>A (p.Met195Ile)
|
rs570552952
|
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
|
rs765172751
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)
|
rs786204597
|
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)
|
rs786204597
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)
|
rs104894406
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)
|
rs749693224
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
NM_004004.6(GJB2):c.628T>C (p.Leu210=)
|
rs1036073348
|
NM_004004.6(GJB2):c.630_631GT[1] (p.Cys211fs)
|
rs587783646
|
NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)
|
|
NM_004004.6(GJB2):c.645del (p.Arg216fs)
|
rs1555341794
|
NM_004004.6(GJB2):c.646A>C (p.Arg216=)
|
rs1446334784
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)
|
rs752812448
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter)
|
rs766975999
|
NM_004004.6(GJB2):c.668_671del (p.Lys223fs)
|
rs1555341783
|
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn)
|
rs879253741
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)
|
rs1555341782
|
NM_004004.6(GJB2):c.675A>T (p.Pro225=)
|
rs563151740
|
NM_004004.6(GJB2):c.677T>A (p.Val226Asp)
|
rs773846324
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter)
|
rs769486081
|
NM_004004.6(GJB2):c.73C>T (p.Leu25Phe)
|
rs1555342006
|
NM_004004.6(GJB2):c.77_106dup (p.Leu36_Val37insProValLeuPheIlePheArgIleMetIle)
|
rs398123815
|
NM_004004.6(GJB2):c.78C>T (p.Thr26=)
|
rs201848820
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
NM_004004.6(GJB2):c.85_87del (p.Phe29del)
|
rs1555342003
|
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)
|
rs374625633
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
NM_004004.6(GJB2):c.95G>A (p.Arg32His)
|
rs111033190
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys)
|
|
Single allele
|
|