NM_004004.6(GJB2):c.*1152G>A
|
rs7623
|
0.89599
|
NM_004004.6(GJB2):c.-22-332C>A
|
rs7318163
|
0.89461
|
NC_000013.11:g.20193244A>G
|
rs9550621
|
0.82112
|
NC_000013.11:g.20193129T>C
|
rs9552101
|
0.78805
|
NM_004004.6(GJB2):c.*84T>C
|
rs3751385
|
0.73662
|
NM_004004.6(GJB2):c.-23+792C>T
|
rs7994748
|
0.60436
|
NC_000013.11:g.20193170A>G
|
rs117685390
|
0.16325
|
NM_004004.6(GJB2):c.-22-12C>T
|
rs9578260
|
0.07478
|
NM_004004.6(GJB2):c.*111C>T
|
rs7329857
|
0.06802
|
NM_004004.6(GJB2):c.*104A>T
|
rs7337074
|
0.06800
|
NM_004004.6(GJB2):c.*1197T>A
|
rs11841182
|
0.04451
|
NM_004004.6(GJB2):c.*168A>G
|
rs55704559
|
0.04011
|
NM_004004.6(GJB2):c.*931C>T
|
rs5030700
|
0.03992
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
NM_004004.6(GJB2):c.-15C>T
|
rs72561725
|
0.01589
|
NM_004004.6(GJB2):c.-216T>G
|
rs574815423
|
0.01243
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_004004.6(GJB2):c.-23+12G>A
|
rs397516866
|
0.00541
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
NM_004004.6(GJB2):c.-23+253C>T
|
rs7332397
|
0.00395
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
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.-45C>A
|
rs397516868
|
0.00245
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
0.00129
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_004004.6(GJB2):c.-174C>G
|
rs541058463
|
0.00097
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
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.*1C>T
|
rs111033327
|
0.00045
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
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.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
NM_004004.6(GJB2):c.186C>T (p.Asn62=)
|
rs397516869
|
0.00016
|
NM_004004.6(GJB2):c.225G>T (p.Arg75=)
|
rs149137695
|
0.00016
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
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.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_004004.6(GJB2):c.675A>T (p.Pro225=)
|
rs563151740
|
0.00010
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
0.00008
|
NM_004004.6(GJB2):c.177C>T (p.Gly59=)
|
rs375122728
|
0.00007
|
NM_004004.6(GJB2):c.24G>A (p.Thr8=)
|
rs533231493
|
0.00007
|
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser)
|
rs116769964
|
0.00007
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004004.6(GJB2):c.340G>A (p.Glu114Lys)
|
rs201855069
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004004.6(GJB2):c.-22-18T>A
|
rs778602324
|
0.00005
|
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)
|
rs374572413
|
0.00005
|
NM_004004.6(GJB2):c.477C>T (p.Asp159=)
|
rs935617755
|
0.00005
|
NM_004004.5(GJB2):c.-259C>T
|
rs1417111166
|
0.00004
|
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)
|
rs587783644
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
0.00004
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
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.78C>T (p.Thr26=)
|
rs201848820
|
0.00004
|
NM_004004.6(GJB2):c.-7G>A
|
rs398123813
|
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.208C>G (p.Pro70Ala)
|
rs200023879
|
0.00003
|
NM_004004.6(GJB2):c.21G>A (p.Gln7=)
|
rs137932057
|
0.00003
|
NM_004004.6(GJB2):c.258G>A (p.Thr86=)
|
rs139362103
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
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.488T>C (p.Met163Thr)
|
rs1273330603
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
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_004004.6(GJB2):c.647G>T (p.Arg216Ile)
|
rs767233008
|
0.00003
|
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)
|
rs111033296
|
0.00002
|
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
|
rs111033203
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.298del (p.His100fs)
|
rs775828835
|
0.00002
|
NM_004004.6(GJB2):c.299A>T (p.His100Leu)
|
rs1422767764
|
0.00002
|
NM_004004.6(GJB2):c.407dup (p.Tyr136Ter)
|
rs771409330
|
0.00002
|
NM_004004.6(GJB2):c.444C>T (p.Ala148=)
|
rs757029266
|
0.00002
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)
|
rs770330002
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
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_004004.6(GJB2):c.104T>G (p.Ile35Ser)
|
rs756467247
|
0.00001
|
NM_004004.6(GJB2):c.108C>G (p.Leu36=)
|
rs138547875
|
0.00001
|
NM_004004.6(GJB2):c.122A>G (p.Lys41Arg)
|
rs866127155
|
0.00001
|
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)
|
rs535635403
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
0.00001
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
NM_004004.6(GJB2):c.135A>T (p.Gly45=)
|
rs777528049
|
0.00001
|
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
|
rs781085903
|
0.00001
|
NM_004004.6(GJB2):c.15G>A (p.Thr5=)
|
rs757226502
|
0.00001
|
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
|
rs778922005
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
rs104894403
|
0.00001
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
NM_004004.6(GJB2):c.219C>T (p.His73=)
|
rs727504755
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.228A>G (p.Leu76=)
|
rs1959060799
|
0.00001
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
NM_004004.6(GJB2):c.267C>G (p.Leu89=)
|
rs727503067
|
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.291C>T (p.Tyr97=)
|
rs749070779
|
0.00001
|
NM_004004.6(GJB2):c.30G>C (p.Leu10=)
|
rs1215210213
|
0.00001
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
NM_004004.6(GJB2):c.32_45del (p.Gly11fs)
|
rs1290698257
|
0.00001
|
NM_004004.6(GJB2):c.331A>G (p.Ile111Val)
|
rs1003660637
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004004.6(GJB2):c.33G>T (p.Gly11=)
|
rs753943758
|
0.00001
|
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)
|
rs528216023
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.396G>A (p.Leu132=)
|
rs755058488
|
0.00001
|
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)
|
rs786204690
|
0.00001
|
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp)
|
rs1476034902
|
0.00001
|
NM_004004.6(GJB2):c.435C>T (p.Ile145=)
|
rs1210470150
|
0.00001
|
NM_004004.6(GJB2):c.438C>T (p.Phe146=)
|
rs750795475
|
0.00001
|
NM_004004.6(GJB2):c.453G>A (p.Met151Ile)
|
rs765115961
|
0.00001
|
NM_004004.6(GJB2):c.456C>T (p.Tyr152=)
|
rs111033420
|
0.00001
|
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)
|
rs375759781
|
0.00001
|
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu)
|
rs757699303
|
0.00001
|
NM_004004.6(GJB2):c.500T>C (p.Val167Ala)
|
rs201983374
|
0.00001
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
0.00001
|
NM_004004.6(GJB2):c.546G>A (p.Val182=)
|
rs752236261
|
0.00001
|
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)
|
rs1131691709
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
0.00001
|
NM_004004.6(GJB2):c.597T>A (p.Ser199=)
|
rs984555255
|
0.00001
|
NM_004004.6(GJB2):c.597T>C (p.Ser199=)
|
rs984555255
|
0.00001
|
NM_004004.6(GJB2):c.606C>T (p.Cys202=)
|
rs1176381370
|
0.00001
|
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)
|
rs749693224
|
0.00001
|
NM_004004.6(GJB2):c.628T>C (p.Leu210=)
|
rs1036073348
|
0.00001
|
NM_004004.6(GJB2):c.672G>A (p.Lys224=)
|
rs757510867
|
0.00001
|
NC_000013.11:g.20193112C>G
|
rs531356872
|
|
NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)
|
|
|
NM_004004.6(GJB2):c.*1067G>T
|
rs9237
|
|
NM_004004.6(GJB2):c.-112A>C
|
rs1555342240
|
|
NM_004004.6(GJB2):c.-14G>A
|
|
|
NM_004004.6(GJB2):c.-165del
|
|
|
NM_004004.6(GJB2):c.-169C>G
|
|
|
NM_004004.6(GJB2):c.-16C>T
|
rs759745271
|
|
NM_004004.6(GJB2):c.-173G>C
|
rs1016014284
|
|
NM_004004.6(GJB2):c.-22-12C>G
|
rs9578260
|
|
NM_004004.6(GJB2):c.-23+24_-23+32del
|
|
|
NM_004004.6(GJB2):c.-47C>G
|
rs1555342239
|
|
NM_004004.6(GJB2):c.100A>T (p.Met34Leu)
|
rs564084861
|
|
NM_004004.6(GJB2):c.101T>G (p.Met34Arg)
|
rs35887622
|
|
NM_004004.6(GJB2):c.108C>T (p.Leu36=)
|
rs138547875
|
|
NM_004004.6(GJB2):c.109G>T (p.Val37Phe)
|
rs72474224
|
|
NM_004004.6(GJB2):c.114G>A (p.Val38=)
|
|
|
NM_004004.6(GJB2):c.118G>A (p.Ala40Thr)
|
|
|
NM_004004.6(GJB2):c.11del (p.Gly4fs)
|
rs1555342014
|
|
NM_004004.6(GJB2):c.120A>G (p.Ala40=)
|
|
|
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
|
|
|
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn)
|
rs1064797088
|
|
NM_004004.6(GJB2):c.136G>C (p.Asp46His)
|
rs1064797088
|
|
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)
|
|
|
NM_004004.6(GJB2):c.145del (p.Ala49fs)
|
|
|
NM_004004.6(GJB2):c.147C>T (p.Ala49=)
|
|
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
|
NM_004004.6(GJB2):c.155_158del (p.Val52fs)
|
|
|
NM_004004.6(GJB2):c.159C>T (p.Cys53=)
|
|
|
NM_004004.6(GJB2):c.15G>C (p.Thr5=)
|
rs757226502
|
|
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser)
|
rs2137308512
|
|
NM_004004.6(GJB2):c.162C>T (p.Asn54=)
|
rs104894412
|
|
NM_004004.6(GJB2):c.166C>T (p.Leu56=)
|
rs1009769315
|
|
NM_004004.6(GJB2):c.168G>A (p.Leu56=)
|
|
|
NM_004004.6(GJB2):c.168G>T (p.Leu56=)
|
|
|
NM_004004.6(GJB2):c.171G>A (p.Gln57=)
|
rs1064797175
|
|
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)
|
rs104894410
|
|
NM_004004.6(GJB2):c.176G>T (p.Gly59Val)
|
rs104894404
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.178T>G (p.Cys60Gly)
|
|
|
NM_004004.6(GJB2):c.187G>A (p.Val63Met)
|
rs370696868
|
|
NM_004004.6(GJB2):c.187G>C (p.Val63Leu)
|
|
|
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
|
NM_004004.6(GJB2):c.189G>T (p.Val63=)
|
rs1959061331
|
|
NM_004004.6(GJB2):c.195C>A (p.Tyr65Ter)
|
|
|
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter)
|
rs763572195
|
|
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr)
|
rs104894403
|
|
NM_004004.6(GJB2):c.1A>T (p.Met1Leu)
|
rs111033293
|
|
NM_004004.6(GJB2):c.200dup (p.His67fs)
|
rs2137308372
|
|
NM_004004.6(GJB2):c.206T>C (p.Phe69Ser)
|
|
|
NM_004004.6(GJB2):c.207C>G (p.Phe69Leu)
|
|
|
NM_004004.6(GJB2):c.207C>T (p.Phe69=)
|
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
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>A (p.Ala78Thr)
|
rs1959060696
|
|
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser)
|
rs1959060696
|
|
NM_004004.6(GJB2):c.232dup (p.Ala78fs)
|
rs1555341960
|
|
NM_004004.6(GJB2):c.233C>A (p.Ala78Asp)
|
rs1481417187
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.237G>C (p.Leu79=)
|
|
|
NM_004004.6(GJB2):c.238C>A (p.Gln80Lys)
|
rs199883710
|
|
NM_004004.6(GJB2):c.239dup (p.Leu81fs)
|
rs1555341954
|
|
NM_004004.6(GJB2):c.241C>T (p.Leu81=)
|
|
|
NM_004004.6(GJB2):c.243G>A (p.Leu81=)
|
|
|
NM_004004.6(GJB2):c.249C>T (p.Phe83=)
|
rs111033218
|
|
NM_004004.6(GJB2):c.24G>C (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.251T>C (p.Val84Ala)
|
|
|
NM_004004.6(GJB2):c.252G>A (p.Val84=)
|
|
|
NM_004004.6(GJB2):c.255C>T (p.Ser85=)
|
|
|
NM_004004.6(GJB2):c.256A>G (p.Thr86Ala)
|
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
NM_004004.6(GJB2):c.258G>T (p.Thr86=)
|
rs139362103
|
|
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu)
|
rs1555341946
|
|
NM_004004.6(GJB2):c.263C>A (p.Ala88Glu)
|
|
|
NM_004004.6(GJB2):c.263C>T (p.Ala88Val)
|
rs1555341945
|
|
NM_004004.6(GJB2):c.264G>A (p.Ala88=)
|
rs754237172
|
|
NM_004004.6(GJB2):c.264G>C (p.Ala88=)
|
|
|
NM_004004.6(GJB2):c.266T>C (p.Leu89Pro)
|
rs1959060148
|
|
NM_004004.6(GJB2):c.267C>A (p.Leu89=)
|
|
|
NM_004004.6(GJB2):c.268C>T (p.Leu90=)
|
rs1959060111
|
|
NM_004004.6(GJB2):c.268del (p.Leu89_Leu90insTer)
|
rs2137308116
|
|
NM_004004.6(GJB2):c.275C>T (p.Ala92Val)
|
rs1959060006
|
|
NM_004004.6(GJB2):c.276C>T (p.Ala92=)
|
rs1593351392
|
|
NM_004004.6(GJB2):c.277A>C (p.Met93Leu)
|
|
|
NM_004004.6(GJB2):c.277A>G (p.Met93Val)
|
|
|
NM_004004.6(GJB2):c.27C>A (p.Ile9=)
|
rs1286249617
|
|
NM_004004.6(GJB2):c.280C>T (p.His94Tyr)
|
rs1593351383
|
|
NM_004004.6(GJB2):c.282C>T (p.His94=)
|
rs766998544
|
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
|
NM_004004.6(GJB2):c.288C>T (p.Ala96=)
|
|
|
NM_004004.6(GJB2):c.28del (p.Leu10fs)
|
rs1441862662
|
|
NM_004004.6(GJB2):c.293G>A (p.Arg98Gln)
|
|
|
NM_004004.6(GJB2):c.294G>C (p.Arg98=)
|
rs1334783390
|
|
NM_004004.6(GJB2):c.2T>G (p.Met1Arg)
|
rs371086981
|
|
NM_004004.6(GJB2):c.302AGA[2] (p.Lys103del)
|
rs1555341934
|
|
NM_004004.6(GJB2):c.303G>A (p.Glu101=)
|
|
|
NM_004004.6(GJB2):c.308A>G (p.Lys103Arg)
|
rs915521910
|
|
NM_004004.6(GJB2):c.308A>T (p.Lys103Met)
|
|
|
NM_004004.6(GJB2):c.310A>C (p.Arg104=)
|
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.318C>T (p.Phe106=)
|
|
|
NM_004004.6(GJB2):c.321C>T (p.Ile107=)
|
rs1057502788
|
|
NM_004004.6(GJB2):c.324G>A (p.Lys108=)
|
rs1959059239
|
|
NM_004004.6(GJB2):c.327G>A (p.Gly109=)
|
|
|
NM_004004.6(GJB2):c.328del (p.Glu110fs)
|
|
|
NM_004004.6(GJB2):c.330G>A (p.Glu110=)
|
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.342A>G (p.Glu114=)
|
|
|
NM_004004.6(GJB2):c.345dup (p.Lys116Ter)
|
|
|
NM_004004.6(GJB2):c.351C>T (p.Asp117=)
|
|
|
NM_004004.6(GJB2):c.353_356dup (p.Glu119fs)
|
|
|
NM_004004.6(GJB2):c.354C>T (p.Ile118=)
|
rs1260220204
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
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.363C>A (p.Ile121=)
|
rs1234807594
|
|
NM_004004.6(GJB2):c.36T>G (p.Gly12=)
|
rs2137308870
|
|
NM_004004.6(GJB2):c.371A>C (p.Gln124Pro)
|
|
|
NM_004004.6(GJB2):c.378C>A (p.Val126=)
|
rs2137307737
|
|
NM_004004.6(GJB2):c.379C>G (p.Arg127Gly)
|
rs727503066
|
|
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)
|
rs727503066
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.382A>G (p.Ile128Val)
|
rs1959058329
|
|
NM_004004.6(GJB2):c.384C>T (p.Ile128=)
|
rs111033298
|
|
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)
|
rs397516875
|
|
NM_004004.6(GJB2):c.387A>G (p.Glu129=)
|
rs2137307697
|
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
|
NM_004004.6(GJB2):c.393C>G (p.Ser131=)
|
|
|
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)
|
|
|
NM_004004.6(GJB2):c.39G>A (p.Val13=)
|
rs1415433002
|
|
NM_004004.6(GJB2):c.3G>A (p.Met1Ile)
|
|
|
NM_004004.6(GJB2):c.402del (p.Trp133_Trp134insTer)
|
rs1195692356
|
|
NM_004004.6(GJB2):c.405C>T (p.Thr135=)
|
|
|
NM_004004.6(GJB2):c.410C>G (p.Thr137Arg)
|
rs1959058054
|
|
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)
|
rs1555341907
|
|
NM_004004.6(GJB2):c.419T>G (p.Ile140Ser)
|
|
|
NM_004004.6(GJB2):c.41A>G (p.Asn14Ser)
|
|
|
NM_004004.6(GJB2):c.41dup (p.Asn14fs)
|
rs1165937383
|
|
NM_004004.6(GJB2):c.420C>T (p.Ile140=)
|
rs1214625738
|
|
NM_004004.6(GJB2):c.421TTC[1] (p.Phe142del)
|
|
|
NM_004004.6(GJB2):c.423C>T (p.Phe141=)
|
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.429G>T (p.Arg143=)
|
rs2137307608
|
|
NM_004004.6(GJB2):c.432C>A (p.Val144=)
|
|
|
NM_004004.6(GJB2):c.432C>T (p.Val144=)
|
|
|
NM_004004.6(GJB2):c.433_435del (p.Ile145del)
|
|
|
NM_004004.6(GJB2):c.440A>G (p.Glu147Gly)
|
rs1959057808
|
|
NM_004004.6(GJB2):c.441A>G (p.Glu147=)
|
|
|
NM_004004.6(GJB2):c.444C>G (p.Ala148=)
|
rs757029266
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
NM_004004.6(GJB2):c.447C>A (p.Ala149=)
|
rs2137307569
|
|
NM_004004.6(GJB2):c.447C>T (p.Ala149=)
|
|
|
NM_004004.6(GJB2):c.453_460delinsAGAGAAGAC (p.Met151fs)
|
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)
|
|
|
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys)
|
rs776335807
|
|
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)
|
rs772264564
|
|
NM_004004.6(GJB2):c.468C>T (p.Val156=)
|
rs2137307508
|
|
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)
|
rs373684994
|
|
NM_004004.6(GJB2):c.488T>G (p.Met163Arg)
|
rs1273330603
|
|
NM_004004.6(GJB2):c.48C>T (p.His16=)
|
|
|
NM_004004.6(GJB2):c.490C>T (p.Gln164Ter)
|
|
|
NM_004004.6(GJB2):c.504G>A (p.Lys168=)
|
rs2137307395
|
|
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)
|
rs760489970
|
|
NM_004004.6(GJB2):c.513C>G (p.Ala171=)
|
rs2137307355
|
|
NM_004004.6(GJB2):c.514del (p.Trp172fs)
|
rs1057517508
|
|
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter)
|
rs1302739538
|
|
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser)
|
rs1959056736
|
|
NM_004004.6(GJB2):c.518C>G (p.Pro173Arg)
|
|
|
NM_004004.6(GJB2):c.518C>T (p.Pro173Leu)
|
rs1555341843
|
|
NM_004004.6(GJB2):c.51C>A (p.Ser17=)
|
rs1959063254
|
|
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)
|
rs886037624
|
|
NM_004004.6(GJB2):c.522T>C (p.Cys174=)
|
rs2137307325
|
|
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.528C>A (p.Asn176Lys)
|
|
|
NM_004004.6(GJB2):c.531T>C (p.Thr177=)
|
|
|
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)
|
rs1275901105
|
|
NM_004004.6(GJB2):c.534G>C (p.Val178=)
|
|
|
NM_004004.6(GJB2):c.535G>C (p.Asp179His)
|
rs28931595
|
|
NM_004004.6(GJB2):c.537C>T (p.Asp179=)
|
|
|
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser)
|
rs1566529035
|
|
NM_004004.6(GJB2):c.53_63del (p.Thr18fs)
|
rs2137308791
|
|
NM_004004.6(GJB2):c.546G>T (p.Val182=)
|
|
|
NM_004004.6(GJB2):c.548C>T (p.Ser183Phe)
|
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.552G>A (p.Arg184=)
|
rs2137307254
|
|
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.561G>A (p.Glu187=)
|
|
|
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)
|
rs770116143
|
|
NM_004004.6(GJB2):c.567T>C (p.Thr189=)
|
|
|
NM_004004.6(GJB2):c.568_571del (p.Val190fs)
|
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004004.6(GJB2):c.56G>T (p.Ser19Ile)
|
|
|
NM_004004.6(GJB2):c.570C>T (p.Val190=)
|
|
|
NM_004004.6(GJB2):c.575_576del (p.Thr192fs)
|
rs1057517521
|
|
NM_004004.6(GJB2):c.576A>C (p.Thr192=)
|
|
|
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>T (p.Met195Leu)
|
|
|
NM_004004.6(GJB2):c.585G>A (p.Met195Ile)
|
rs570552952
|
|
NM_004004.6(GJB2):c.585G>C (p.Met195Ile)
|
rs570552952
|
|
NM_004004.6(GJB2):c.585G>T (p.Met195Ile)
|
rs570552952
|
|
NM_004004.6(GJB2):c.588T>C (p.Ile196=)
|
|
|
NM_004004.6(GJB2):c.592G>A (p.Val198Met)
|
rs2137307128
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
NM_004004.6(GJB2):c.594G>A (p.Val198=)
|
|
|
NM_004004.6(GJB2):c.595T>C (p.Ser199Pro)
|
|
|
NM_004004.6(GJB2):c.595T>G (p.Ser199Ala)
|
|
|
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)
|
rs786204597
|
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
|
NM_004004.6(GJB2):c.600A>C (p.Gly200=)
|
rs2137307091
|
|
NM_004004.6(GJB2):c.604T>C (p.Cys202Arg)
|
|
|
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)
|
rs104894406
|
|
NM_004004.6(GJB2):c.607A>C (p.Ile203Leu)
|
|
|
NM_004004.6(GJB2):c.609C>T (p.Ile203=)
|
rs1959055396
|
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NM_004004.6(GJB2):c.612G>T (p.Leu204=)
|
|
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NM_004004.6(GJB2):c.621C>T (p.Val207=)
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rs1959055309
|
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NM_004004.6(GJB2):c.624del (p.Glu209fs)
|
rs2137307021
|
|
NM_004004.6(GJB2):c.630_634del (p.Cys211fs)
|
|
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NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.641T>G (p.Leu214Arg)
|
|
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NM_004004.6(GJB2):c.645T>C (p.Ile215=)
|
rs750216973
|
|
NM_004004.6(GJB2):c.645del (p.Arg216fs)
|
rs1555341794
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004004.6(GJB2):c.66G>A (p.Lys22=)
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rs879253741
|
|
NM_004004.6(GJB2):c.680A>G (p.Ter227=)
|
|
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NM_004004.6(GJB2):c.6T>C (p.Asp2=)
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rs1463179125
|
|
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.76del (p.Thr26fs)
|
rs2137308765
|
|
NM_004004.6(GJB2):c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle)
|
rs398123815
|
|
NM_004004.6(GJB2):c.82C>G (p.Leu28Val)
|
|
|
NM_004004.6(GJB2):c.82_84del (p.Leu28del)
|
|
|
NM_004004.6(GJB2):c.85_87del (p.Phe29del)
|
rs1555342003
|
|
NM_004004.6(GJB2):c.88A>T (p.Ile30Phe)
|
|
|
NM_004004.6(GJB2):c.89T>C (p.Ile30Thr)
|
|
|
NM_004004.6(GJB2):c.8G>C (p.Trp3Ser)
|
|
|
NM_004004.6(GJB2):c.93del (p.Arg32fs)
|
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
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.98T>C (p.Ile33Thr)
|
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
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NM_004004.6(GJB2):c.9G>T (p.Trp3Cys)
|
rs111033401
|
|