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_001097642.3(GJB1):c.-16-613C>T
|
rs185380563
|
0.00727
|
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.507C>T (p.Asp169=)
|
rs373334326
|
0.00022
|
NM_000166.6(GJB1):c.30C>T (p.Leu10=)
|
rs183702021
|
0.00018
|
NM_000166.6(GJB1):c.-101C>T
|
rs961829342
|
0.00008
|
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.637A>G (p.Ile213Val)
|
rs753503984
|
0.00004
|
NM_000166.6(GJB1):c.318A>G (p.Leu106=)
|
rs754804402
|
0.00003
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726
|
0.00003
|
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)
|
rs748095080
|
0.00003
|
NM_000166.6(GJB1):c.-27C>T
|
rs879254157
|
0.00002
|
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)
|
rs1064793139
|
0.00001
|
NM_000166.6(GJB1):c.268C>T (p.Leu90Phe)
|
rs1299325261
|
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.527C>T (p.Thr176Ile)
|
rs1273640670
|
0.00001
|
NM_000166.6(GJB1):c.546C>T (p.Ser182=)
|
rs781639935
|
0.00001
|
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)
|
rs144381053
|
0.00001
|
NM_000166.6(GJB1):c.705C>T (p.Phe235=)
|
rs760150310
|
0.00001
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_000166.6(GJB1):c.793C>T (p.Arg265Cys)
|
rs1324941945
|
0.00001
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971
|
|
NM_000166.6(GJB1):c.-16-82G>C
|
rs192195270
|
|
NM_000166.6(GJB1):c.-17+10C>A
|
rs2092541241
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.-17G>C
|
rs1555935794
|
|
NM_000166.6(GJB1):c.-45G>T
|
|
|
NM_000166.6(GJB1):c.100A>G (p.Met34Val)
|
rs1569215061
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.112G>A (p.Val38Met)
|
rs879254012
|
|
NM_000166.6(GJB1):c.113T>G (p.Val38Gly)
|
rs863224612
|
|
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
|
rs1602348782
|
|
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)
|
rs879253935
|
|
NM_000166.6(GJB1):c.139G>A (p.Glu47Lys)
|
rs2092542839
|
|
NM_000166.6(GJB1):c.147T>C (p.Ser49=)
|
rs2092542885
|
|
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)
|
rs913934445
|
|
NM_000166.6(GJB1):c.149C>G (p.Ser50Cys)
|
rs2092542910
|
|
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)
|
rs876661269
|
|
NM_000166.6(GJB1):c.152T>C (p.Phe51Ser)
|
rs1602348850
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
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.176G>A (p.Gly59Asp)
|
|
|
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg)
|
rs1060501004
|
|
NM_000166.6(GJB1):c.183C>A (p.Asn61Lys)
|
rs1364055284
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp)
|
rs2147945443
|
|
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)
|
rs104894819
|
|
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)
|
rs878853697
|
|
NM_000166.6(GJB1):c.215C>T (p.Ser72Phe)
|
rs2092543301
|
|
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.231G>A (p.Trp77Ter)
|
rs879254096
|
|
NM_000166.6(GJB1):c.235del (p.Leu79fs)
|
rs2147945607
|
|
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
|
rs879254097
|
|
NM_000166.6(GJB1):c.241C>G (p.Leu81Val)
|
rs876661143
|
|
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)
|
rs1602349017
|
|
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)
|
rs1602349021
|
|
NM_000166.6(GJB1):c.265C>G (p.Leu89Val)
|
rs1602349029
|
|
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)
|
rs1555937122
|
|
NM_000166.6(GJB1):c.268C>A (p.Leu90Ile)
|
rs1299325261
|
|
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser)
|
rs1569214971
|
|
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158
|
|
NM_000166.6(GJB1):c.282C>A (p.His94Gln)
|
rs756000896
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821
|
|
NM_000166.6(GJB1):c.299A>T (p.His100Leu)
|
rs1602349133
|
|
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu)
|
rs1131691322
|
|
NM_000166.6(GJB1):c.319del (p.Arg107fs)
|
rs1569215212
|
|
NM_000166.6(GJB1):c.324dup (p.Glu109Ter)
|
rs1555937143
|
|
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)
|
rs1555937145
|
|
NM_000166.6(GJB1):c.35del (p.Gly12fs)
|
rs2092542021
|
|
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)
|
rs876661119
|
|
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)
|
rs879253995
|
|
NM_000166.6(GJB1):c.380T>A (p.Ile127Asn)
|
rs1602349258
|
|
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)
|
rs1602349280
|
|
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
|
rs1602349283
|
|
NM_000166.6(GJB1):c.392T>G (p.Leu131Arg)
|
rs1555937166
|
|
NM_000166.6(GJB1):c.396del (p.Trp132fs)
|
rs879253946
|
|
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
|
rs1602349302
|
|
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)
|
rs1555937180
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
NM_000166.6(GJB1):c.439G>A (p.Ala147Thr)
|
rs760123011
|
|
NM_000166.6(GJB1):c.439G>T (p.Ala147Ser)
|
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.448A>G (p.Met150Val)
|
rs2147946197
|
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974
|
|
NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)
|
|
|
NM_000166.6(GJB1):c.462T>A (p.Tyr154Ter)
|
|
|
NM_000166.6(GJB1):c.462T>G (p.Tyr154Ter)
|
rs879254098
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818
|
|
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>G (p.His16Arg)
|
rs1602348610
|
|
NM_000166.6(GJB1):c.493C>G (p.Leu165Val)
|
rs2147946331
|
|
NM_000166.6(GJB1):c.502T>A (p.Cys168Ser)
|
rs1057518780
|
|
NM_000166.6(GJB1):c.508_551dup (p.Thr185fs)
|
rs2092545197
|
|
NM_000166.6(GJB1):c.524dup (p.Asn175fs)
|
rs1569215346
|
|
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup)
|
rs1555937221
|
|
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn)
|
rs1555937223
|
|
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822
|
|
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>A (p.Val181Glu)
|
rs876661252
|
|
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.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.559A>G (p.Lys187Glu)
|
rs1555937244
|
|
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
|
rs116840823
|
|
NM_000166.6(GJB1):c.566T>G (p.Val189Gly)
|
rs1064794244
|
|
NM_000166.6(GJB1):c.592T>C (p.Ser198Pro)
|
rs1555937259
|
|
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)
|
rs1602349730
|
|
NM_000166.6(GJB1):c.602del (p.Cys201fs)
|
rs1569215424
|
|
NM_000166.6(GJB1):c.605T>A (p.Ile202Asn)
|
rs1131691258
|
|
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile)
|
rs1064795540
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822
|
|
NM_000166.6(GJB1):c.617T>G (p.Val206Gly)
|
rs1569215431
|
|
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)
|
rs1555937270
|
|
NM_000166.6(GJB1):c.626T>G (p.Val209Gly)
|
rs1064795785
|
|
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)
|
rs1569215443
|
|
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.64C>T (p.Arg22Ter)
|
rs1555937020
|
|
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.668G>A (p.Arg223His)
|
rs1218391757
|
|
NM_000166.6(GJB1):c.689G>A (p.Arg230His)
|
rs780335726
|
|
NM_000166.6(GJB1):c.713G>T (p.Arg238Leu)
|
rs776206757
|
|
NM_000166.6(GJB1):c.728A>G (p.Tyr243Cys)
|
rs2147947218
|
|
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)
|
rs587777876
|
|
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
|
rs1602348537
|
|
NM_000166.6(GJB1):c.807_808del (p.Ala271fs)
|
rs1602350012
|
|
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr)
|
rs768834663
|
|
NM_000166.6(GJB1):c.842dup (p.Ala282fs)
|
rs1569215591
|
|
NM_000166.6(GJB1):c.843_846del (p.Cys283fs)
|
rs1602350059
|
|
NM_000166.6(GJB1):c.99_103dup (p.Val35fs)
|
rs1602348726
|
|
NM_001097642.3(GJB1):c.-16-523_-16-519delinsCAAGT
|
rs1131691690
|
|
NM_001097642.3(GJB1):c.-16-524C>G
|
rs1060501001
|
|
NM_001097642.3(GJB1):c.-16-580T>G
|
rs2147944267
|
|
NM_001097642.3(GJB1):c.-16-697G>A
|
rs6525485
|
|