NM_000166.6(GJB1):c.*117C>T
|
rs41307256
|
0.03266
|
NM_000166.6(GJB1):c.*163G>T
|
rs139775308
|
0.02210
|
NM_000166.6(GJB1):c.*34C>A
|
rs113014279
|
0.02074
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_000166.6(GJB1):c.-6G>A
|
rs201344743
|
0.00043
|
NM_000166.6(GJB1):c.*309G>A
|
rs181881705
|
0.00040
|
NM_000166.6(GJB1):c.*277A>G
|
rs759936874
|
0.00026
|
NM_000166.6(GJB1):c.507C>T (p.Asp169=)
|
rs373334326
|
0.00022
|
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)
|
rs587781246
|
0.00014
|
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.37G>A (p.Val13Met)
|
rs104894820
|
0.00006
|
NM_000166.6(GJB1):c.671G>A (p.Arg224His)
|
rs201697702
|
0.00006
|
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973
|
0.00005
|
NM_000166.6(GJB1):c.*22C>T
|
rs745547989
|
0.00003
|
NM_000166.6(GJB1):c.565G>A (p.Val189Ile)
|
rs770116247
|
0.00003
|
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
|
rs748095370
|
0.00002
|
NM_000166.6(GJB1):c.*443G>A
|
rs533182215
|
0.00001
|
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)
|
rs779696968
|
0.00001
|
NM_000166.6(GJB1):c.320G>A (p.Arg107Gln)
|
rs1383588318
|
0.00001
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)
|
rs104894810
|
0.00001
|
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)
|
rs139643362
|
0.00001
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912
|
0.00001
|
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)
|
rs104894811
|
0.00001
|
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)
|
rs1426533412
|
0.00001
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)
|
rs768834663
|
0.00001
|
NM_000166.6(GJB1):c.*15C>T
|
rs1057520778
|
|
NM_000166.6(GJB1):c.*50G>C
|
rs2092547330
|
|
NM_000166.6(GJB1):c.-102G>A
|
rs753207004
|
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971
|
|
NM_000166.6(GJB1):c.-16-2A>G
|
rs751230398
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.110del (p.Val37fs)
|
rs1602348754
|
|
NM_000166.6(GJB1):c.116del (p.Ala39fs)
|
rs1602348779
|
|
NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)
|
rs1602348782
|
|
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.132G>A (p.Trp44Ter)
|
rs879253935
|
|
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)
|
rs1602348820
|
|
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.155del (p.Ile52fs)
|
rs1602348856
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.164_184dup (p.Thr55_Asn61dup)
|
rs1555937071
|
|
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser)
|
rs483352926
|
|
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)
|
rs1555937082
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)
|
rs104894819
|
|
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
|
rs1602348907
|
|
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
|
rs1602348913
|
|
NM_000166.6(GJB1):c.1A>G (p.Met1Val)
|
|
|
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
|
rs1602348930
|
|
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
|
rs1602348918
|
|
NM_000166.6(GJB1):c.217del (p.His73fs)
|
rs1602348937
|
|
NM_000166.6(GJB1):c.21C>A (p.Tyr7Ter)
|
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)
|
rs863224972
|
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820
|
|
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)
|
rs879254096
|
|
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
|
rs1602348981
|
|
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
|
rs1602349000
|
|
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)
|
rs104894823
|
|
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
|
rs1602349014
|
|
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)
|
rs587777877
|
|
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158
|
|
NM_000166.6(GJB1):c.272T>A (p.Val91Glu)
|
|
|
NM_000166.6(GJB1):c.272T>C (p.Val91Ala)
|
|
|
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.277_278del (p.Met93fs)
|
rs1602349068
|
|
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
|
rs1602349095
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821
|
|
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly)
|
rs11551260
|
|
NM_000166.6(GJB1):c.287C>T (p.Ala96Val)
|
rs11551260
|
|
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)
|
rs2092543877
|
|
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
|
rs1602349121
|
|
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.313del (p.Met105fs)
|
rs1602349163
|
|
NM_000166.6(GJB1):c.324dup (p.Glu109Ter)
|
rs1555937143
|
|
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.355G>T (p.Glu119Ter)
|
rs1602349226
|
|
NM_000166.6(GJB1):c.358_360del (p.Val120del)
|
rs1602349233
|
|
NM_000166.6(GJB1):c.371del (p.Lys124fs)
|
rs1602349248
|
|
NM_000166.6(GJB1):c.37G>T (p.Val13Leu)
|
rs104894820
|
|
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.386G>A (p.Gly129Glu)
|
rs1602349280
|
|
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.395G>A (p.Trp132Ter)
|
rs2147946047
|
|
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)
|
rs1602349293
|
|
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)
|
rs104894813
|
|
NM_000166.6(GJB1):c.397del (p.Trp133fs)
|
rs1602349299
|
|
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
|
rs1602349302
|
|
NM_000166.6(GJB1):c.406_407dup (p.Ile137fs)
|
|
|
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826
|
|
NM_000166.6(GJB1):c.410del (p.Ile137fs)
|
rs1602349316
|
|
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
|
rs1602349322
|
|
NM_000166.6(GJB1):c.424del (p.Arg142fs)
|
rs1602349328
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del)
|
rs1602349339
|
|
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)
|
rs1262031967
|
|
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
|
rs1602348598
|
|
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
|
rs1602349347
|
|
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.445T>A (p.Phe149Ile)
|
rs1602349369
|
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974
|
|
NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)
|
|
|
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
|
rs1602348605
|
|
NM_000166.6(GJB1):c.454del (p.Val152fs)
|
rs1602349383
|
|
NM_000166.6(GJB1):c.455T>C (p.Val152Ala)
|
|
|
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.467T>A (p.Leu156His)
|
rs104894818
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818
|
|
NM_000166.6(GJB1):c.468_469del (p.Tyr157fs)
|
rs1602349420
|
|
NM_000166.6(GJB1):c.474del (p.Gly159fs)
|
rs1602349441
|
|
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
|
rs1602348610
|
|
NM_000166.6(GJB1):c.484dup (p.Met162fs)
|
rs1602349460
|
|
NM_000166.6(GJB1):c.48T>C (p.His16=)
|
|
|
NM_000166.6(GJB1):c.494T>A (p.Leu165Gln)
|
rs1602349468
|
|
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
|
rs1602349473
|
|
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly)
|
rs1057518780
|
|
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
|
rs104894811
|
|
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
|
rs1602349535
|
|
NM_000166.6(GJB1):c.520C>G (p.Pro174Ala)
|
rs2147946493
|
|
NM_000166.6(GJB1):c.524dup (p.Asn175fs)
|
rs1569215346
|
|
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
|
rs1602349585
|
|
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.541G>A (p.Val181Met)
|
rs879253909
|
|
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
|
rs1602349628
|
|
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.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.571dup (p.Thr191fs)
|
rs1602349676
|
|
NM_000166.6(GJB1):c.573_574insTCA (p.Thr191_Val192insSer)
|
rs1602349684
|
|
NM_000166.6(GJB1):c.576del (p.Phe193fs)
|
rs1602349692
|
|
NM_000166.6(GJB1):c.57C>T (p.Ala19=)
|
|
|
NM_000166.6(GJB1):c.580A>G (p.Met194Val)
|
rs587777878
|
|
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro)
|
rs1569215413
|
|
NM_000166.6(GJB1):c.58A>T (p.Ile20Phe)
|
|
|
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.596G>A (p.Gly199Asp)
|
rs2147946811
|
|
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
|
rs1569215025
|
|
NM_000166.6(GJB1):c.606del (p.Ile203fs)
|
rs1602349746
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
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.622del (p.Glu208fs)
|
rs2147946914
|
|
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.62del (p.Gly21fs)
|
rs1602348638
|
|
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)
|
rs1569215443
|
|
NM_000166.6(GJB1):c.634del (p.Leu212fs)
|
rs1602349791
|
|
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.644G>C (p.Arg215Pro)
|
rs864622215
|
|
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)
|
rs2147947019
|
|
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>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
|
rs760150310
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662
|
|
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.77C>A (p.Ser26Ter)
|
rs587777876
|
|
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)
|
rs587777876
|
|
NM_000166.6(GJB1):c.77del (p.Ser26fs)
|
rs1602348679
|
|
NM_000166.6(GJB1):c.783_784del (p.Ile262fs)
|
rs1602349955
|
|
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.800del (p.Pro267fs)
|
rs1602350003
|
|
NM_000166.6(GJB1):c.822del (p.Glu275fs)
|
rs1602350029
|
|
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.88A>T (p.Ile30Phe)
|
|
|
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn)
|
rs104894817
|
|
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.90C>G (p.Ile30Met)
|
|
|
NM_000166.6(GJB1):c.95G>A (p.Arg32Lys)
|
|
|
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)
|
rs116840823
|
|
NM_001097642.3(GJB1):c.-16-475C>G
|
rs2092540944
|
|
NM_001097642.3(GJB1):c.-16-511G>C
|
rs2147944334
|
|
NM_001097642.3(GJB1):c.-16-513T>G
|
rs1003232768
|
|