NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_000166.6(GJB1):c.497T>G (p.Val166Gly)
|
rs199626569
|
0.00109
|
NM_000166.6(GJB1):c.*277A>G
|
rs759936874
|
0.00026
|
NM_000166.6(GJB1):c.*402G>A
|
rs753223616
|
0.00009
|
NM_000166.6(GJB1):c.-128G>A
|
rs1057515983
|
0.00007
|
NM_000166.6(GJB1):c.540C>T (p.Phe180=)
|
rs771022595
|
0.00007
|
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
|
rs104894820
|
0.00006
|
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys)
|
rs200774406
|
0.00005
|
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984
|
0.00004
|
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
|
rs781312706
|
0.00004
|
NM_000166.6(GJB1):c.*22C>T
|
rs745547989
|
0.00003
|
NM_000166.6(GJB1):c.318A>G (p.Leu106=)
|
rs754804402
|
0.00003
|
NM_000166.6(GJB1):c.438G>A (p.Glu146=)
|
rs776798195
|
0.00003
|
NM_000166.6(GJB1):c.565G>A (p.Val189Ile)
|
rs770116247
|
0.00003
|
NM_000166.6(GJB1):c.574G>A (p.Val192Ile)
|
rs771579861
|
0.00003
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726
|
0.00003
|
NM_000166.6(GJB1):c.505G>A (p.Asp169Asn)
|
rs754963933
|
0.00002
|
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
|
rs748095370
|
0.00002
|
NM_000166.6(GJB1):c.713G>A (p.Arg238His)
|
rs776206757
|
0.00002
|
NM_000166.6(GJB1):c.811G>A (p.Ala271Thr)
|
rs756258267
|
0.00002
|
NM_000166.6(GJB1):c.*443G>A
|
rs533182215
|
0.00001
|
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)
|
rs1064793139
|
0.00001
|
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)
|
rs779696968
|
0.00001
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
|
rs879254098
|
0.00001
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912
|
0.00001
|
NM_000166.6(GJB1):c.527C>T (p.Thr176Ile)
|
rs1273640670
|
0.00001
|
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)
|
rs144381053
|
0.00001
|
NM_000166.6(GJB1):c.656G>A (p.Arg219His)
|
rs199834862
|
0.00001
|
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)
|
rs1426533412
|
0.00001
|
NM_000166.6(GJB1):c.758G>A (p.Ser253Asn)
|
rs994060118
|
0.00001
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu)
|
rs763991026
|
0.00001
|
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)
|
rs768834663
|
0.00001
|
NM_000166.6(GJB1):c.*50G>C
|
rs2092547330
|
|
NM_000166.6(GJB1):c.-102G>A
|
rs753207004
|
|
NM_000166.6(GJB1):c.-16-3C>G
|
rs1602348508
|
|
NM_000166.6(GJB1):c.100A>G (p.Met34Val)
|
rs1569215061
|
|
NM_000166.6(GJB1):c.101T>A (p.Met34Lys)
|
rs1060500998
|
|
NM_000166.6(GJB1):c.101T>C (p.Met34Thr)
|
rs1060500998
|
|
NM_000166.6(GJB1):c.103G>A (p.Val35Met)
|
rs1602348735
|
|
NM_000166.6(GJB1):c.106C>G (p.Leu36Val)
|
rs2092542516
|
|
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)
|
rs1602348737
|
|
NM_000166.6(GJB1):c.109G>A (p.Val37Met)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.110del (p.Val37fs)
|
rs1602348754
|
|
NM_000166.6(GJB1):c.112G>A (p.Val38Met)
|
rs879254012
|
|
NM_000166.6(GJB1):c.113T>C (p.Val38Ala)
|
rs863224612
|
|
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)
|
rs1602348767
|
|
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro)
|
rs1602348769
|
|
NM_000166.6(GJB1):c.115del (p.Ala39fs)
|
rs1602348763
|
|
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly)
|
rs786204095
|
|
NM_000166.6(GJB1):c.116C>T (p.Ala39Val)
|
rs786204095
|
|
NM_000166.6(GJB1):c.116del (p.Ala39fs)
|
rs1602348779
|
|
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
|
rs1602348782
|
|
NM_000166.6(GJB1):c.119C>T (p.Ala40Val)
|
rs1602348786
|
|
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys)
|
rs1602348548
|
|
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)
|
rs1602348796
|
|
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816
|
|
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)
|
rs1602348801
|
|
NM_000166.6(GJB1):c.124_125del (p.Ser42fs)
|
rs1602348794
|
|
NM_000166.6(GJB1):c.127G>A (p.Val43Met)
|
rs1602348804
|
|
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu)
|
rs1555937063
|
|
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)
|
rs879253935
|
|
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)
|
rs879253935
|
|
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)
|
rs1602348820
|
|
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)
|
rs1602348552
|
|
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly)
|
rs1602348828
|
|
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)
|
rs1602348833
|
|
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817
|
|
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr)
|
rs1602348838
|
|
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)
|
rs913934445
|
|
NM_000166.6(GJB1):c.155del (p.Ile52fs)
|
rs1602348856
|
|
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser)
|
rs1602348863
|
|
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr)
|
rs1602348864
|
|
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser)
|
rs1602348864
|
|
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala)
|
rs863224613
|
|
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg)
|
rs104894824
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe)
|
rs1602348872
|
|
NM_000166.6(GJB1):c.171G>C (p.Gln57His)
|
rs1602348875
|
|
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
|
rs1602348876
|
|
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)
|
rs1555937077
|
|
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys)
|
rs1555937077
|
|
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)
|
rs1555937082
|
|
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe)
|
rs1555937082
|
|
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg)
|
rs1602348895
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.187G>T (p.Val63Phe)
|
rs116840818
|
|
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)
|
rs1602348897
|
|
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)
|
rs1602348897
|
|
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe)
|
rs1602348897
|
|
NM_000166.6(GJB1):c.193T>C (p.Tyr65His)
|
rs1602348902
|
|
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
|
rs1602348907
|
|
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn)
|
rs1602348911
|
|
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
|
rs1602348913
|
|
NM_000166.6(GJB1):c.1A>T (p.Met1Leu)
|
rs1602348517
|
|
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)
|
rs1602348917
|
|
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)
|
rs878853697
|
|
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)
|
rs878853697
|
|
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
|
rs1602348930
|
|
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys)
|
rs1602348554
|
|
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
|
rs1602348918
|
|
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser)
|
rs1602348932
|
|
NM_000166.6(GJB1):c.217del (p.His73fs)
|
rs1602348937
|
|
NM_000166.6(GJB1):c.220G>A (p.Val74Met)
|
rs772377652
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro)
|
rs863224972
|
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820
|
|
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg)
|
rs1602348960
|
|
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro)
|
rs1602348557
|
|
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser)
|
rs199570177
|
|
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)
|
rs879254096
|
|
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe)
|
rs1602348971
|
|
NM_000166.6(GJB1):c.234C>T (p.Ser78=)
|
rs1602348974
|
|
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)
|
rs1602348981
|
|
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
|
rs1602348981
|
|
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
|
rs879254097
|
|
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile)
|
rs1602348559
|
|
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)
|
rs876661143
|
|
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
|
rs1602348995
|
|
NM_000166.6(GJB1):c.246C>G (p.Ile82Met)
|
rs1602348999
|
|
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)
|
rs1602349004
|
|
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)
|
rs1602349004
|
|
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
|
rs1602349000
|
|
NM_000166.6(GJB1):c.250G>A (p.Val84Ile)
|
rs1602349007
|
|
NM_000166.6(GJB1):c.251T>G (p.Val84Gly)
|
rs1602349008
|
|
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)
|
rs104894823
|
|
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)
|
rs104894823
|
|
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
|
rs1602349014
|
|
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser)
|
rs1602349014
|
|
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)
|
rs1602349017
|
|
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)
|
rs1602349017
|
|
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser)
|
rs587777877
|
|
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)
|
rs1602349021
|
|
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)
|
rs1555937122
|
|
NM_000166.6(GJB1):c.268C>G (p.Leu90Val)
|
rs1299325261
|
|
NM_000166.6(GJB1):c.269T>A (p.Leu90His)
|
rs1602349045
|
|
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp)
|
rs1569214971
|
|
NM_000166.6(GJB1):c.271G>C (p.Val91Leu)
|
rs756928158
|
|
NM_000166.6(GJB1):c.272T>G (p.Val91Gly)
|
rs1602349050
|
|
NM_000166.6(GJB1):c.273_274del (p.Ala92fs)
|
rs1602349061
|
|
NM_000166.6(GJB1):c.275_276del (p.Ala92fs)
|
rs1602349065
|
|
NM_000166.6(GJB1):c.277A>G (p.Met93Val)
|
rs1602349066
|
|
NM_000166.6(GJB1):c.277_278del (p.Met93fs)
|
rs1602349068
|
|
NM_000166.6(GJB1):c.278T>A (p.Met93Lys)
|
rs1602349077
|
|
NM_000166.6(GJB1):c.278T>G (p.Met93Arg)
|
rs1602349077
|
|
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe)
|
rs1602348563
|
|
NM_000166.6(GJB1):c.280C>G (p.His94Asp)
|
rs1602349087
|
|
NM_000166.6(GJB1):c.280C>T (p.His94Tyr)
|
rs1602349087
|
|
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
|
rs1602349095
|
|
NM_000166.6(GJB1):c.282C>A (p.His94Gln)
|
rs756000896
|
|
NM_000166.6(GJB1):c.282C>G (p.His94Gln)
|
rs756000896
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821
|
|
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)
|
rs1602349112
|
|
NM_000166.6(GJB1):c.287C>T (p.Ala96Val)
|
rs11551260
|
|
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
|
rs1602349121
|
|
NM_000166.6(GJB1):c.298C>T (p.His100Tyr)
|
rs1602349131
|
|
NM_000166.6(GJB1):c.2T>G (p.Met1Arg)
|
rs1602348519
|
|
NM_000166.6(GJB1):c.300C>G (p.His100Gln)
|
rs1602349137
|
|
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)
|
rs1602349143
|
|
NM_000166.6(GJB1):c.304_306del (p.Glu102del)
|
rs1555937135
|
|
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu)
|
rs1131691322
|
|
NM_000166.6(GJB1):c.308dup (p.Lys104fs)
|
rs1602349159
|
|
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr)
|
rs1602349166
|
|
NM_000166.6(GJB1):c.313del (p.Met105fs)
|
rs1602349163
|
|
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly)
|
rs1602348569
|
|
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)
|
rs1602349183
|
|
NM_000166.6(GJB1):c.324dup (p.Glu109Ter)
|
rs1555937143
|
|
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)
|
rs1555937145
|
|
NM_000166.6(GJB1):c.332_349del (p.His111_His116del)
|
rs1602349197
|
|
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)
|
rs1602349208
|
|
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser)
|
rs1555936999
|
|
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)
|
rs1602349226
|
|
NM_000166.6(GJB1):c.358_360del (p.Val120del)
|
rs1602349233
|
|
NM_000166.6(GJB1):c.359T>A (p.Val120Glu)
|
rs1049663989
|
|
NM_000166.6(GJB1):c.371del (p.Lys124fs)
|
rs1602349248
|
|
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)
|
rs876661119
|
|
NM_000166.6(GJB1):c.374T>A (p.Val125Asp)
|
rs1602349254
|
|
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)
|
rs879253995
|
|
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe)
|
rs1602349257
|
|
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser)
|
rs1602349258
|
|
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
|
rs1602349264
|
|
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro)
|
rs1602349268
|
|
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)
|
rs1602349272
|
|
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)
|
rs1602349272
|
|
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)
|
rs1602349272
|
|
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
|
rs1602349283
|
|
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)
|
rs1555937166
|
|
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg)
|
rs1569215263
|
|
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)
|
rs1555937168
|
|
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)
|
rs1602349293
|
|
NM_000166.6(GJB1):c.397del (p.Trp133fs)
|
rs1602349299
|
|
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
|
rs1602349302
|
|
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
|
rs1602349302
|
|
NM_000166.6(GJB1):c.3G>T (p.Met1Ile)
|
rs1602348524
|
|
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys)
|
rs1602349309
|
|
NM_000166.6(GJB1):c.410del (p.Ile137fs)
|
rs1602349316
|
|
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
|
rs1602349322
|
|
NM_000166.6(GJB1):c.419T>A (p.Val140Glu)
|
rs923460745
|
|
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser)
|
rs1569214995
|
|
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)
|
rs1555937180
|
|
NM_000166.6(GJB1):c.424del (p.Arg142fs)
|
rs1602349328
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro)
|
rs1602349336
|
|
NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del)
|
rs1602349339
|
|
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
|
rs1602348598
|
|
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys)
|
rs1602349346
|
|
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
|
rs1602349347
|
|
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala)
|
rs1602349349
|
|
NM_000166.6(GJB1):c.439del (p.Ala147fs)
|
rs1602349352
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.43del (p.Arg15fs)
|
rs1602348594
|
|
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp)
|
rs1602349361
|
|
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
|
rs1602349369
|
|
NM_000166.6(GJB1):c.445T>G (p.Phe149Val)
|
rs1602349369
|
|
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
|
rs1602348605
|
|
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn)
|
rs1602349378
|
|
NM_000166.6(GJB1):c.451T>C (p.Tyr151His)
|
rs1602349378
|
|
NM_000166.6(GJB1):c.454del (p.Val152fs)
|
rs1602349383
|
|
NM_000166.6(GJB1):c.455T>A (p.Val152Asp)
|
rs1602349388
|
|
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser)
|
rs1602349399
|
|
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys)
|
rs1602349399
|
|
NM_000166.6(GJB1):c.459_460del (p.Phe153fs)
|
rs1602349393
|
|
NM_000166.6(GJB1):c.461A>G (p.Tyr154Cys)
|
rs1555937189
|
|
NM_000166.6(GJB1):c.463C>A (p.Leu155Met)
|
rs1057515984
|
|
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe)
|
rs1602349418
|
|
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys)
|
rs1602349427
|
|
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala)
|
rs1602349430
|
|
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser)
|
rs1602349430
|
|
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg)
|
rs1602349439
|
|
NM_000166.6(GJB1):c.474del (p.Gly159fs)
|
rs1602349441
|
|
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser)
|
rs1555937194
|
|
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)
|
rs1602349446
|
|
NM_000166.6(GJB1):c.478T>C (p.Tyr160His)
|
rs1555937197
|
|
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
|
rs1602349451
|
|
NM_000166.6(GJB1):c.47A>C (p.His16Pro)
|
rs1602348610
|
|
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
|
rs1602348610
|
|
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro)
|
rs1602349453
|
|
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp)
|
rs1602349454
|
|
NM_000166.6(GJB1):c.484dup (p.Met162fs)
|
rs1602349460
|
|
NM_000166.6(GJB1):c.48T>G (p.His16Gln)
|
rs1270518681
|
|
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly)
|
rs139643362
|
|
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro)
|
rs1602349468
|
|
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
|
rs1602349473
|
|
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu)
|
rs1602349482
|
|
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
|
rs766201464
|
|
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg)
|
rs1057518780
|
|
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr)
|
rs1602349495
|
|
NM_000166.6(GJB1):c.508G>T (p.Val170Phe)
|
rs748095370
|
|
NM_000166.6(GJB1):c.509T>A (p.Val170Asp)
|
rs1602349512
|
|
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr)
|
rs1555937009
|
|
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)
|
rs1555937009
|
|
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
|
rs104894811
|
|
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg)
|
rs1555937218
|
|
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)
|
rs1555937218
|
|
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg)
|
rs1602349527
|
|
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
|
rs1602349535
|
|
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu)
|
rs1602349540
|
|
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp)
|
rs1602349545
|
|
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser)
|
rs1602349555
|
|
NM_000166.6(GJB1):c.524dup (p.Asn175fs)
|
rs1569215346
|
|
NM_000166.6(GJB1):c.529G>A (p.Val177Met)
|
rs1569215351
|
|
NM_000166.6(GJB1):c.530T>A (p.Val177Glu)
|
rs1602349572
|
|
NM_000166.6(GJB1):c.530T>C (p.Val177Ala)
|
rs1602349572
|
|
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr)
|
rs1555937223
|
|
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly)
|
rs1555937224
|
|
NM_000166.6(GJB1):c.533A>T (p.Asp178Val)
|
rs1555937224
|
|
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
|
rs1602349585
|
|
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)
|
rs1602349591
|
|
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)
|
rs1602349591
|
|
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822
|
|
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
|
rs1602349603
|
|
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser)
|
rs1602349610
|
|
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
|
rs771022595
|
|
NM_000166.6(GJB1):c.541G>A (p.Val181Met)
|
rs879253909
|
|
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)
|
rs879253909
|
|
NM_000166.6(GJB1):c.542T>C (p.Val181Ala)
|
rs876661252
|
|
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
|
rs1602349628
|
|
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)
|
rs1602349631
|
|
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)
|
rs1602349631
|
|
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser)
|
rs863224471
|
|
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
|
rs863224471
|
|
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
|
rs1555937233
|
|
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)
|
rs1555937233
|
|
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)
|
rs1602349646
|
|
NM_000166.6(GJB1):c.553_555del (p.Thr185del)
|
rs1602349648
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)
|
rs116840821
|
|
NM_000166.6(GJB1):c.556dup (p.Glu186fs)
|
rs1602349655
|
|
NM_000166.6(GJB1):c.557A>T (p.Glu186Val)
|
rs1602349656
|
|
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)
|
rs1555937244
|
|
NM_000166.6(GJB1):c.566T>G (p.Val189Gly)
|
rs1064794244
|
|
NM_000166.6(GJB1):c.571A>G (p.Thr191Ala)
|
rs1555937248
|
|
NM_000166.6(GJB1):c.571dup (p.Thr191fs)
|
rs1602349676
|
|
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
|
rs776040132
|
|
NM_000166.6(GJB1):c.573_574insTCA (p.Thr191_Val192insSer)
|
rs1602349684
|
|
NM_000166.6(GJB1):c.574G>T (p.Val192Phe)
|
rs771579861
|
|
NM_000166.6(GJB1):c.576del (p.Phe193fs)
|
rs1602349692
|
|
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys)
|
rs1602349696
|
|
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu)
|
rs1602349697
|
|
NM_000166.6(GJB1):c.590C>T (p.Ala197Val)
|
rs1569215418
|
|
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)
|
rs1555937259
|
|
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)
|
rs1602349716
|
|
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg)
|
rs772529850
|
|
NM_000166.6(GJB1):c.596G>A (p.Gly199Asp)
|
rs2147946811
|
|
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
|
rs1569215025
|
|
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser)
|
rs1569215025
|
|
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg)
|
rs1602349726
|
|
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly)
|
rs1602349726
|
|
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)
|
rs1602349730
|
|
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe)
|
rs1602349730
|
|
NM_000166.6(GJB1):c.606del (p.Ile203fs)
|
rs1602349746
|
|
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn)
|
rs1602349749
|
|
NM_000166.6(GJB1):c.610C>G (p.Leu204Val)
|
rs1064795540
|
|
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)
|
rs1064795540
|
|
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile)
|
rs104894822
|
|
NM_000166.6(GJB1):c.617dup (p.Ala207fs)
|
rs1602349763
|
|
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro)
|
rs2147946898
|
|
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)
|
rs1602348633
|
|
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)
|
rs1555937270
|
|
NM_000166.6(GJB1):c.622del (p.Glu208fs)
|
rs2147946914
|
|
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly)
|
rs1602349768
|
|
NM_000166.6(GJB1):c.625GTG[1] (p.Val210del)
|
rs1602349772
|
|
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
|
rs1602349779
|
|
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp)
|
rs1602348640
|
|
NM_000166.6(GJB1):c.62G>T (p.Gly21Val)
|
rs1602348640
|
|
NM_000166.6(GJB1):c.62del (p.Gly21fs)
|
rs1602348638
|
|
NM_000166.6(GJB1):c.631T>C (p.Tyr211His)
|
rs1602349785
|
|
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)
|
rs1569215443
|
|
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe)
|
rs1602349796
|
|
NM_000166.6(GJB1):c.634del (p.Leu212fs)
|
rs1602349791
|
|
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn)
|
rs1602349801
|
|
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)
|
rs1602349807
|
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099
|
|
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)
|
rs2147947019
|
|
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)
|
rs1555937020
|
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020
|
|
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter)
|
rs1602349821
|
|
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)
|
rs104894814
|
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)
|
rs1057524799
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro)
|
rs1060501002
|
|
NM_000166.6(GJB1):c.68T>C (p.Val23Ala)
|
rs1602348650
|
|
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)
|
rs1602348530
|
|
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
|
rs760150310
|
|
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg)
|
rs1602348654
|
|
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile)
|
rs1602349901
|
|
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)
|
rs1602348658
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662
|
|
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro)
|
rs1602348665
|
|
NM_000166.6(GJB1):c.761dup (p.Gln255fs)
|
rs1602349920
|
|
NM_000166.6(GJB1):c.772del (p.Ser258fs)
|
rs1602349940
|
|
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)
|
rs1602349948
|
|
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu)
|
rs1602349951
|
|
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)
|
rs587777876
|
|
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp)
|
rs587777876
|
|
NM_000166.6(GJB1):c.77del (p.Ser26fs)
|
rs1602348679
|
|
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
|
rs1602349962
|
|
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)
|
rs1602349984
|
|
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
|
rs1602348537
|
|
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly)
|
rs1602348537
|
|
NM_000166.6(GJB1):c.800del (p.Pro267fs)
|
rs1602350003
|
|
NM_000166.6(GJB1):c.80T>C (p.Val27Ala)
|
rs1602348686
|
|
NM_000166.6(GJB1):c.822del (p.Glu275fs)
|
rs1602350029
|
|
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly)
|
rs1602350047
|
|
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr)
|
rs768834663
|
|
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter)
|
rs866253945
|
|
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
|
rs1602350062
|
|
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter)
|
rs748676943
|
|
NM_000166.6(GJB1):c.84del (p.Phe29fs)
|
rs1602348695
|
|
NM_000166.6(GJB1):c.851G>C (p.Ter284Ser)
|
|
|
NM_000166.6(GJB1):c.852A>G (p.Ter284Trp)
|
|
|
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)
|
rs1602348703
|
|
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)
|
rs104894817
|
|
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)
|
rs1555936989
|
|
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)
|
rs1555936989
|
|
NM_000166.6(GJB1):c.94A>G (p.Arg32Gly)
|
rs1602348720
|
|
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)
|
rs1602348722
|
|
NM_001097642.3(GJB1):c.-16-475C>G
|
rs2092540944
|
|