ClinVar Miner

List of variants in gene GJB1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 788
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.*117C>T rs41307256 0.03266
NM_000166.6(GJB1):c.-17+116C>T rs111853447 0.02274
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.-77G>A rs190676487 0.00500
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.497T>G (p.Val166Gly) rs199626569 0.00109
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.30C>T (p.Leu10=) rs183702021 0.00018
NM_000166.6(GJB1):c.36C>T (p.Gly12=) rs756086307 0.00014
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.-101C>T rs961829342 0.00008
NM_000166.6(GJB1):c.-128G>A rs1057515983 0.00007
NM_000166.6(GJB1):c.442G>A (p.Val148Ile) rs775956201 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.441C>T (p.Ala147=) rs765686240 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.504C>T (p.Cys168=) rs757808220 0.00005
NM_000166.6(GJB1):c.627G>T (p.Val209=) rs376113695 0.00005
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.297A>G (p.Gln99=) rs1213746899 0.00003
NM_000166.6(GJB1):c.318A>G (p.Leu106=) rs754804402 0.00003
NM_000166.6(GJB1):c.414C>T (p.Ser138=) rs1317916250 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.768T>C (p.Asp256=) rs1248389821 0.00003
NM_000166.6(GJB1):c.78G>A (p.Ser26=) rs749174507 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_000166.6(GJB1):c.849C>T (p.Cys283=) rs748676943 0.00003
NM_000166.6(GJB1):c.-27C>T rs879254157 0.00002
NM_000166.6(GJB1):c.354G>A (p.Glu118=) rs1174424501 0.00002
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.522C>T (p.Pro174=) rs1271866184 0.00002
NM_000166.6(GJB1):c.564C>T (p.Thr188=) rs746270194 0.00002
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084 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.843G>A (p.Ser281=) rs779327968 0.00002
NM_000166.6(GJB1):c.*443G>A rs533182215 0.00001
NM_000166.6(GJB1):c.108G>C (p.Leu36=) rs149350998 0.00001
NM_000166.6(GJB1):c.120A>G (p.Ala40=) rs1481496306 0.00001
NM_000166.6(GJB1):c.126T>C (p.Ser42=) rs1184846357 0.00001
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139 0.00001
NM_000166.6(GJB1):c.165A>G (p.Thr55=) rs1173034334 0.00001
NM_000166.6(GJB1):c.183C>T (p.Asn61=) rs1364055284 0.00001
NM_000166.6(GJB1):c.21C>T (p.Tyr7=) rs2092541958 0.00001
NM_000166.6(GJB1):c.261A>G (p.Pro87=) rs376994837 0.00001
NM_000166.6(GJB1):c.268C>T (p.Leu90Phe) rs1299325261 0.00001
NM_000166.6(GJB1):c.282C>T (p.His94=) rs756000896 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.462T>C (p.Tyr154=) rs879254098 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.501G>A (p.Lys167=) rs766201464 0.00001
NM_000166.6(GJB1):c.510C>G (p.Val170=) rs758610223 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.606C>T (p.Ile202=) rs1323117815 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.682C>T (p.Pro228Ser) rs1408060576 0.00001
NM_000166.6(GJB1):c.69A>G (p.Val23=) rs780076535 0.00001
NM_000166.6(GJB1):c.705C>T (p.Phe235=) rs760150310 0.00001
NM_000166.6(GJB1):c.732G>A (p.Lys244=) rs1198937821 0.00001
NM_000166.6(GJB1):c.757A>G (p.Ser253Gly) rs1233208182 0.00001
NM_000166.6(GJB1):c.758G>A (p.Ser253Asn) rs994060118 0.00001
NM_000166.6(GJB1):c.766G>A (p.Asp256Asn) rs1474185231 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.793C>T (p.Arg265Cys) rs1324941945 0.00001
NM_000166.6(GJB1):c.807C>T (p.Thr269=) rs750620543 0.00001
NM_000166.6(GJB1):c.808G>A (p.Gly270Arg) rs1244231648 0.00001
NM_000166.6(GJB1):c.832G>A (p.Asp278Asn) rs1192074631 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NC_000023.10:g.(?_70443558)_(70444409_?)del
NC_000023.11:g.(?_71223168)_(71224569_?)del
NC_000023.11:g.(?_71223168)_(71224579_?)del
NM_000166.6(GJB1):c.*15C>T rs1057520778
NM_000166.6(GJB1):c.*18C>G rs2092547149
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.-109C>T
NM_000166.6(GJB1):c.-16-1G>A
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000166.6(GJB1):c.-16-35_264del
NM_000166.6(GJB1):c.-16-3C>G rs1602348508
NM_000166.6(GJB1):c.-16-4G>T
NM_000166.6(GJB1):c.-16-82G>C rs192195270
NM_000166.6(GJB1):c.-16-8_-12del rs2147944724
NM_000166.6(GJB1):c.-17+10C>A rs2092541241
NM_000166.6(GJB1):c.-17+2T>G
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.101T>A (p.Met34Lys) rs1060500998
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.102G>A (p.Met34Ile) rs1060501000
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.108G>T (p.Leu36=) rs149350998
NM_000166.6(GJB1):c.109G>A (p.Val37Met) rs1057518946
NM_000166.6(GJB1):c.109G>C (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.110T>A (p.Val37Glu)
NM_000166.6(GJB1):c.110del (p.Val37fs) rs1602348754
NM_000166.6(GJB1):c.111_112dup (p.Val38fs) rs2092542575
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.113T>G (p.Val38Gly) rs863224612
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs) rs1602348767
NM_000166.6(GJB1):c.115G>A (p.Ala39Thr)
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.118G>T (p.Ala40Ser) 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.120_121insCCACCAGCT (p.Ala40_Glu41insProProAla) rs1569215082
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>G (p.Ser42Gly)
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.127G>C (p.Val43Leu) rs1602348804
NM_000166.6(GJB1):c.128T>A (p.Val43Glu) rs1555937059
NM_000166.6(GJB1):c.129G>A (p.Val43=) rs2147945183
NM_000166.6(GJB1):c.131G>A (p.Trp44Ter)
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.133G>C (p.Gly45Arg)
NM_000166.6(GJB1):c.134dup (p.Gly45_Asp46insTer)
NM_000166.6(GJB1):c.135T>G (p.Gly45=) rs1602348813
NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly) rs1602348820
NM_000166.6(GJB1):c.137A>T (p.Asp46Val) rs1602348820
NM_000166.6(GJB1):c.138T>G (p.Asp46Glu) rs1419095893
NM_000166.6(GJB1):c.139G>A (p.Glu47Lys) rs2092542839
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.140A>T (p.Glu47Val) 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.147T>C (p.Ser49=) rs2092542885
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.148T>G (p.Ser50Ala)
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.153C>A (p.Phe51Leu) rs2147945283
NM_000166.6(GJB1):c.155del (p.Ile52fs) rs1602348856
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser) rs1602348863
NM_000166.6(GJB1):c.157del (p.Cys53fs)
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.158G>T (p.Cys53Phe)
NM_000166.6(GJB1):c.160A>C (p.Asn54His) rs2092542986
NM_000166.6(GJB1):c.162C>T (p.Asn54=) rs2147945331
NM_000166.6(GJB1):c.163A>C (p.Thr55Pro) rs863224613
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.164_184dup (p.Thr55_Asn61dup) rs1555937071
NM_000166.6(GJB1):c.165_166insGAT (p.Thr55_Leu56insAsp) rs2147945352
NM_000166.6(GJB1):c.166C>G (p.Leu56Val) rs1602348872
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe) rs1602348872
NM_000166.6(GJB1):c.171G>A (p.Gln57=) rs1602348875
NM_000166.6(GJB1):c.171G>C (p.Gln57His) rs1602348875
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) rs483352926
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.176G>A (p.Gly59Asp)
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg) rs1060501004
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.17T>C (p.Leu6Ser) rs2092541936
NM_000166.6(GJB1):c.183C>A (p.Asn61Lys) rs1364055284
NM_000166.6(GJB1):c.183C>G (p.Asn61Lys)
NM_000166.6(GJB1):c.183dup (p.Ser62fs) rs1555937084
NM_000166.6(GJB1):c.184A>C (p.Ser62Arg)
NM_000166.6(GJB1):c.185G>C (p.Ser62Thr)
NM_000166.6(GJB1):c.186C>A (p.Ser62Arg)
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.192C>A (p.Cys64Ter)
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp) rs2147945443
NM_000166.6(GJB1):c.193T>C (p.Tyr65His) rs1602348902
NM_000166.6(GJB1):c.194A>C (p.Tyr65Ser) rs104894819
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.196G>A (p.Asp66Asn) rs1602348911
NM_000166.6(GJB1):c.196G>T (p.Asp66Tyr) rs1602348911
NM_000166.6(GJB1):c.196_198del (p.Asp66del) rs1602348913
NM_000166.6(GJB1):c.197A>G (p.Asp66Gly)
NM_000166.6(GJB1):c.198C>G (p.Asp66Glu)
NM_000166.6(GJB1):c.198C>T (p.Asp66=)
NM_000166.6(GJB1):c.199C>T (p.Gln67Ter) rs2092543211
NM_000166.6(GJB1):c.1A>G (p.Met1Val)
NM_000166.6(GJB1):c.1A>T (p.Met1Leu) rs1602348517
NM_000166.6(GJB1):c.201A>G (p.Gln67=)
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu) rs1602348917
NM_000166.6(GJB1):c.206T>G (p.Phe69Cys)
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.211A>G (p.Ile71Val) rs2092543276
NM_000166.6(GJB1):c.212T>A (p.Ile71Asn) rs1602348932
NM_000166.6(GJB1):c.212T>C (p.Ile71Thr)
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser) rs1602348932
NM_000166.6(GJB1):c.215C>G (p.Ser72Cys) rs2092543301
NM_000166.6(GJB1):c.215C>T (p.Ser72Phe) rs2092543301
NM_000166.6(GJB1):c.216C>G (p.Ser72=)
NM_000166.6(GJB1):c.216C>T (p.Ser72=)
NM_000166.6(GJB1):c.217del (p.His73fs) rs1602348937
NM_000166.6(GJB1):c.218A>G (p.His73Arg) rs748384293
NM_000166.6(GJB1):c.21C>A (p.Tyr7Ter)
NM_000166.6(GJB1):c.220G>A (p.Val74Met) rs772377652
NM_000166.6(GJB1):c.220G>C (p.Val74Leu) rs772377652
NM_000166.6(GJB1):c.221T>C (p.Val74Ala) rs2092543367
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.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.227dup (p.Trp77fs)
NM_000166.6(GJB1):c.228G>A (p.Leu76=)
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.230G>T (p.Trp77Leu) rs199570177
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.231G>T (p.Trp77Cys)
NM_000166.6(GJB1):c.232T>G (p.Ser78Ala) rs1569215156
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.235del (p.Leu79fs) rs2147945607
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.240G>T (p.Gln80His)
NM_000166.6(GJB1):c.241C>G (p.Leu81Val) rs876661143
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) rs876661143
NM_000166.6(GJB1):c.242T>A (p.Leu81His) rs1555937111
NM_000166.6(GJB1):c.244A>C (p.Ile82Leu)
NM_000166.6(GJB1):c.244A>G (p.Ile82Val) rs1602348995
NM_000166.6(GJB1):c.245T>A (p.Ile82Asn) rs2147945641
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.250del (p.Val84fs) rs2147945660
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>G (p.Pro87Ala) rs587777877
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.263C>G (p.Ala88Gly) rs2092543662
NM_000166.6(GJB1):c.264_280del (p.Leu89fs) rs2147945690
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.268C>G (p.Leu90Val) rs1299325261
NM_000166.6(GJB1):c.269T>A (p.Leu90His) rs1602349045
NM_000166.6(GJB1):c.269T>C (p.Leu90Pro) rs1602349045
NM_000166.6(GJB1):c.269T>G (p.Leu90Arg)
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser) rs1569214971
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp) rs1569214971
NM_000166.6(GJB1):c.270C>G (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.270C>T (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) rs756928158
NM_000166.6(GJB1):c.272T>A (p.Val91Glu)
NM_000166.6(GJB1):c.272T>C (p.Val91Ala)
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>G (p.Ala96Gly) rs11551260
NM_000166.6(GJB1):c.287C>T (p.Ala96Val) rs11551260
NM_000166.6(GJB1):c.290A>G (p.His97Arg) rs2147945782
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter) rs2092543877
NM_000166.6(GJB1):c.294G>A (p.Gln98=) rs2147945792
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter) rs1602349121
NM_000166.6(GJB1):c.297_299dup (p.Gln99dup) rs1569215197
NM_000166.6(GJB1):c.298C>T (p.His100Tyr) rs1602349131
NM_000166.6(GJB1):c.299A>T (p.His100Leu) rs1602349133
NM_000166.6(GJB1):c.2T>A (p.Met1Lys) rs1602348519
NM_000166.6(GJB1):c.2T>C (p.Met1Thr) rs1602348519
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.300C>T (p.His100=)
NM_000166.6(GJB1):c.301A>C (p.Ile101Leu)
NM_000166.6(GJB1):c.302T>C (p.Ile101Thr)
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.309G>A (p.Lys103=)
NM_000166.6(GJB1):c.30C>A (p.Leu10=)
NM_000166.6(GJB1):c.30C>G (p.Leu10=)
NM_000166.6(GJB1):c.310A>T (p.Lys104Ter)
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr) rs1602349166
NM_000166.6(GJB1):c.311A>T (p.Lys104Ile) rs1602349166
NM_000166.6(GJB1):c.313del (p.Met105fs) rs1602349163
NM_000166.6(GJB1):c.316C>G (p.Leu106Val)
NM_000166.6(GJB1):c.316_320del (p.Leu106fs) rs2147945853
NM_000166.6(GJB1):c.318dup (p.Arg107fs) rs2147945859
NM_000166.6(GJB1):c.319del (p.Arg107fs) rs1569215212
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.327G>A (p.Glu109=)
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) rs1555937145
NM_000166.6(GJB1):c.329G>T (p.Gly110Val)
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.33T>C (p.Ser11=) rs2147944838
NM_000166.6(GJB1):c.33T>G (p.Ser11Arg)
NM_000166.6(GJB1):c.340C>A (p.Pro114Thr) rs748187922
NM_000166.6(GJB1):c.343dup (p.Leu115fs) rs1555937150
NM_000166.6(GJB1):c.344T>C (p.Leu115Pro) rs2092544190
NM_000166.6(GJB1):c.345A>G (p.Leu115=) rs2092544200
NM_000166.6(GJB1):c.345dup (p.His116fs)
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.35G>A (p.Gly12Asp) rs1569214985
NM_000166.6(GJB1):c.35del (p.Gly12fs) rs2092542021
NM_000166.6(GJB1):c.360G>A (p.Val120=) rs747185844
NM_000166.6(GJB1):c.363G>A (p.Lys121=) rs1341256650
NM_000166.6(GJB1):c.364A>C (p.Arg122=)
NM_000166.6(GJB1):c.364_372del (p.Arg122_Lys124del) rs1555937156
NM_000166.6(GJB1):c.369C>A (p.His123Gln)
NM_000166.6(GJB1):c.36C>A (p.Gly12=) rs756086307
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) rs1555937161
NM_000166.6(GJB1):c.371_377delinsTCTTCACCT (p.Lys124fs)
NM_000166.6(GJB1):c.371del (p.Lys124fs) rs1602349248
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.372G>T (p.Lys124Asn)
NM_000166.6(GJB1):c.374T>A (p.Val125Asp) rs1602349254
NM_000166.6(GJB1):c.374T>G (p.Val125Gly) rs1602349254
NM_000166.6(GJB1):c.375C>T (p.Val125=) rs2092544353
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.378C>T (p.His126=) rs2147945987
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe) rs1602349257
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_000166.6(GJB1):c.380T>A (p.Ile127Asn) rs1602349258
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.384A>G (p.Ser128=)
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000166.6(GJB1):c.388A>G (p.Thr130Ala)
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile) rs1602349283
NM_000166.6(GJB1):c.38T>G (p.Val13Gly) rs1220424626
NM_000166.6(GJB1):c.391C>G (p.Leu131Val) rs2147946023
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) rs1555937166
NM_000166.6(GJB1):c.392T>G (p.Leu131Arg) rs1555937166
NM_000166.6(GJB1):c.393G>A (p.Leu131=) rs2092544471
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.394T>G (p.Trp132Gly) 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.396del (p.Trp132fs) rs879253946
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.399G>T (p.Trp133Cys) rs1602349302
NM_000166.6(GJB1):c.3G>C (p.Met1Ile)
NM_000166.6(GJB1):c.3G>T (p.Met1Ile) rs1602348524
NM_000166.6(GJB1):c.402C>G (p.Thr134=)
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys) rs1602349309
NM_000166.6(GJB1):c.405T>C (p.Tyr135=)
NM_000166.6(GJB1):c.406_407dup (p.Ile137fs)
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.409A>G (p.Ile137Val)
NM_000166.6(GJB1):c.410del (p.Ile137fs) rs1602349316
NM_000166.6(GJB1):c.412A>G (p.Ser138Gly)
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn) rs1602349322
NM_000166.6(GJB1):c.413G>C (p.Ser138Thr)
NM_000166.6(GJB1):c.416T>G (p.Val139Gly) rs2147946105
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.41A>T (p.Asn14Ile) rs1569214995
NM_000166.6(GJB1):c.420G>A (p.Val140=) rs2147946113
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.423C>T (p.Phe141=)
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.428T>G (p.Leu143Arg)
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.430T>C (p.Leu144=)
NM_000166.6(GJB1):c.434T>G (p.Phe145Cys) rs1602349341
NM_000166.6(GJB1):c.435del (p.Phe145fs)
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys) rs1602349346
NM_000166.6(GJB1):c.436G>C (p.Glu146Gln) 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.439G>A (p.Ala147Thr) rs760123011
NM_000166.6(GJB1):c.439G>T (p.Ala147Ser)
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.443_446delinsGAACAC (p.Val148fs) rs2092544789
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.447C>A (p.Phe149Leu) rs2147946194
NM_000166.6(GJB1):c.448A>G (p.Met150Val) rs2147946197
NM_000166.6(GJB1):c.449T>G (p.Met150Arg) rs761350704
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.450del (p.Met150fs)
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.454G>A (p.Val152Ile)
NM_000166.6(GJB1):c.454del (p.Val152fs) rs1602349383
NM_000166.6(GJB1):c.455T>A (p.Val152Asp) rs1602349388
NM_000166.6(GJB1):c.455T>C (p.Val152Ala)
NM_000166.6(GJB1):c.456_457dup (p.Phe153fs)
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.461_464dup (p.Leu156fs) rs2147946234
NM_000166.6(GJB1):c.462T>A (p.Tyr154Ter)
NM_000166.6(GJB1):c.462T>G (p.Tyr154Ter) rs879254098
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.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.46C>G (p.His16Asp) rs2147944895
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.473C>T (p.Pro158Leu) 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>G (p.His16Arg) rs1602348610
NM_000166.6(GJB1):c.47A>T (p.His16Leu) rs1602348610
NM_000166.6(GJB1):c.480T>C (p.Tyr160=)
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.483C>T (p.Ala161=) rs1602349458
NM_000166.6(GJB1):c.484del (p.Met162fs) rs2147946319
NM_000166.6(GJB1):c.484dup (p.Met162fs) rs1602349460
NM_000166.6(GJB1):c.489G>A (p.Val163=)
NM_000166.6(GJB1):c.48T>C (p.His16=)
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.491G>T (p.Arg164Leu) rs1241595912
NM_000166.6(GJB1):c.493C>G (p.Leu165Val) rs2147946331
NM_000166.6(GJB1):c.494T>A (p.Leu165Gln) rs1602349468
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>A (p.Cys168Ser) rs1057518780
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg) rs1057518780
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) rs1057518780
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr) rs1602349495
NM_000166.6(GJB1):c.504C>A (p.Cys168Ter) rs757808220
NM_000166.6(GJB1):c.507del (p.Asp169fs)
NM_000166.6(GJB1):c.508G>T (p.Val170Phe) rs748095370
NM_000166.6(GJB1):c.508_551dup (p.Thr185fs) rs2092545197
NM_000166.6(GJB1):c.509T>A (p.Val170Asp) rs1602349512
NM_000166.6(GJB1):c.509T>G (p.Val170Gly) 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.512A>G (p.Tyr171Cys)
NM_000166.6(GJB1):c.513C>G (p.Tyr171Ter) rs2092545247
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.519C>A (p.Cys173Ter) rs2092545291
NM_000166.6(GJB1):c.519C>T (p.Cys173=) rs2092545291
NM_000166.6(GJB1):c.520C>G (p.Pro174Ala) rs2147946493
NM_000166.6(GJB1):c.521C>G (p.Pro174Arg) rs1602349540
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.526A>C (p.Thr176Pro)
NM_000166.6(GJB1):c.526A>G (p.Thr176Ala)
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup) rs1555937221
NM_000166.6(GJB1):c.529G>A (p.Val177Met) rs1569215351
NM_000166.6(GJB1):c.52A>G (p.Thr18Ala) rs1555937012
NM_000166.6(GJB1):c.52A>T (p.Thr18Ser)
NM_000166.6(GJB1):c.52_54del (p.Thr18del) rs2092542190
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>A (p.Asp178Asn) rs1555937223
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr) rs1555937223
NM_000166.6(GJB1):c.533A>C (p.Asp178Ala) rs1555937224
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.53C>G (p.Thr18Ser) rs1555937015
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.541G>T (p.Val181Leu) rs879253909
NM_000166.6(GJB1):c.542T>A (p.Val181Glu) rs876661252
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.54T>C (p.Thr18=)
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.554C>T (p.Thr185Ile)
NM_000166.6(GJB1):c.555C>T (p.Thr185=) rs1342096912
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.562dup (p.Thr188fs)
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000166.6(GJB1):c.564C>G (p.Thr188=)
NM_000166.6(GJB1):c.566T>C (p.Val189Ala)
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.569_571dup (p.Phe190_Thr191insIle) rs1569215404
NM_000166.6(GJB1):c.56C>A (p.Ala19Asp)
NM_000166.6(GJB1):c.571A>G (p.Thr191Ala) rs1555937248
NM_000166.6(GJB1):c.571A>T (p.Thr191Ser) rs1555937248
NM_000166.6(GJB1):c.571dup (p.Thr191fs) rs1602349676
NM_000166.6(GJB1):c.572C>A (p.Thr191Asn)
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.577T>C (p.Phe193Leu)
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.579C>T (p.Phe193=)
NM_000166.6(GJB1):c.57C>T (p.Ala19=)
NM_000166.6(GJB1):c.580A>C (p.Met194Leu)
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.584T>A (p.Leu195Gln) rs1569215413
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro) rs1569215413
NM_000166.6(GJB1):c.58A>G (p.Ile20Val) rs1555937019
NM_000166.6(GJB1):c.58A>T (p.Ile20Phe)
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.591C>T (p.Ala197=)
NM_000166.6(GJB1):c.592T>C (p.Ser198Pro) rs1555937259
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala) rs1555937259
NM_000166.6(GJB1):c.593C>G (p.Ser198Cys)
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe) rs1602349716
NM_000166.6(GJB1):c.594T>A (p.Ser198=) rs768342461
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.596G>T (p.Gly199Val)
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn) rs1569215025
NM_000166.6(GJB1):c.59T>C (p.Ile20Thr) rs1569215025
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser) rs1569215025
NM_000166.6(GJB1):c.5A>G (p.Asn2Ser)
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>C (p.Cys201Ser) rs1602349730
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe) 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.606del (p.Ile203fs) rs1602349746
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn) rs1602349749
NM_000166.6(GJB1):c.608T>C (p.Ile203Thr) rs1602349749
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile) rs1064795540
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>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile) rs104894822
NM_000166.6(GJB1):c.615T>A (p.Asn205Lys) rs2092545880
NM_000166.6(GJB1):c.617T>G (p.Val206Gly) rs1569215431
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.625G>T (p.Val209Leu)
NM_000166.6(GJB1):c.625GTG[1] (p.Val210del) rs1602349772
NM_000166.6(GJB1):c.626T>G (p.Val209Gly) rs1064795785
NM_000166.6(GJB1):c.629T>A (p.Val210Glu) rs1555937274
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.630del (p.Tyr211fs) rs2092546021
NM_000166.6(GJB1):c.631T>C (p.Tyr211His) rs1602349785
NM_000166.6(GJB1):c.632A>G (p.Tyr211Cys) rs2092546039
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) rs1569215443
NM_000166.6(GJB1):c.633C>T (p.Tyr211=) 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.635T>G (p.Leu212Arg) rs2092546062
NM_000166.6(GJB1):c.639C>T (p.Ile213=) rs2147946992
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.642C>T (p.Ile214=)
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.644G>A (p.Arg215Gln)
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>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.655_670del (p.Arg219fs)
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.668G>A (p.Arg223His) rs1218391757
NM_000166.6(GJB1):c.668_675del (p.Arg223fs)
NM_000166.6(GJB1):c.675C>T (p.Ser225=)
NM_000166.6(GJB1):c.681A>T (p.Pro227=) rs2092546281
NM_000166.6(GJB1):c.689G>A (p.Arg230His) rs780335726
NM_000166.6(GJB1):c.68T>A (p.Val23Glu) rs1602348650
NM_000166.6(GJB1):c.68T>C (p.Val23Ala) rs1602348650
NM_000166.6(GJB1):c.699G>C (p.Ser233=)
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys) rs1602348530
NM_000166.6(GJB1):c.702C>T (p.Gly234=)
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.711C>T (p.His237=)
NM_000166.6(GJB1):c.713G>T (p.Arg238Leu) rs776206757
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile) rs1602349901
NM_000166.6(GJB1):c.717C>G (p.Leu239=) rs2147947208
NM_000166.6(GJB1):c.719C>T (p.Ser240Leu) rs2147947212
NM_000166.6(GJB1):c.728A>G (p.Tyr243Cys) rs2147947218
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.736A>G (p.Asn246Asp)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.744C>A (p.Ile248=) rs2147947224
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro) rs1602348665
NM_000166.6(GJB1):c.759T>C (p.Ser253=)
NM_000166.6(GJB1):c.75C>G (p.Leu25=) rs1602348670
NM_000166.6(GJB1):c.761dup (p.Gln255fs) rs1602349920
NM_000166.6(GJB1):c.762G>A (p.Glu254=)
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.779A>G (p.Lys260Arg)
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.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.788T>C (p.Leu263Pro)
NM_000166.6(GJB1):c.791G>A (p.Arg264His)
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.803G>C (p.Gly268Ala)
NM_000166.6(GJB1):c.804C>T (p.Gly268=)
NM_000166.6(GJB1):c.807_808del (p.Ala271fs) rs1602350012
NM_000166.6(GJB1):c.80T>C (p.Val27Ala) rs1602348686
NM_000166.6(GJB1):c.811G>T (p.Ala271Ser)
NM_000166.6(GJB1):c.816G>A (p.Gly272=)
NM_000166.6(GJB1):c.81C>T (p.Val27=)
NM_000166.6(GJB1):c.822del (p.Glu275fs) rs1602350029
NM_000166.6(GJB1):c.825A>G (p.Glu275=)
NM_000166.6(GJB1):c.831C>T (p.Ser277=) rs1444755256
NM_000166.6(GJB1):c.834C>A (p.Asp278Glu) rs1390397210
NM_000166.6(GJB1):c.835C>T (p.Arg279Cys)
NM_000166.6(GJB1):c.836G>T (p.Arg279Leu)
NM_000166.6(GJB1):c.837C>G (p.Arg279=)
NM_000166.6(GJB1):c.837C>T (p.Arg279=) rs2092546981
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.841T>C (p.Ser281Pro) rs2092547003
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter) rs866253945
NM_000166.6(GJB1):c.842C>T (p.Ser281Leu) rs866253945
NM_000166.6(GJB1):c.842dup (p.Ala282fs) rs1569215591
NM_000166.6(GJB1):c.843_846del (p.Cys283fs) rs1602350059
NM_000166.6(GJB1):c.844dup (p.Ala282fs) rs1602350062
NM_000166.6(GJB1):c.847T>C (p.Cys283Arg) rs2147947497
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.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.8G>C (p.Trp3Ser) rs1555936989
NM_000166.6(GJB1):c.90C>G (p.Ile30Met)
NM_000166.6(GJB1):c.91T>C (p.Phe31Leu) rs2092542440
NM_000166.6(GJB1):c.92T>G (p.Phe31Cys) rs2147945057
NM_000166.6(GJB1):c.93C>T (p.Phe31=) rs1602348714
NM_000166.6(GJB1):c.94A>G (p.Arg32Gly) rs1602348720
NM_000166.6(GJB1):c.95G>A (p.Arg32Lys)
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn) rs1602348722
NM_000166.6(GJB1):c.99C>T (p.Ile33=) rs2092542459
NM_000166.6(GJB1):c.99_103dup (p.Val35fs) rs1602348726
NM_000166.6(GJB1):c.9G>A (p.Trp3Ter) rs863224472
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.-16-511G>T
NM_001097642.3(GJB1):c.-16-513T>C rs1003232768
NM_001097642.3(GJB1):c.-16-513T>G rs1003232768
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

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