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.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.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.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.354G>A (p.Glu118=)
|
rs1174424501
|
0.00002
|
NM_000166.6(GJB1):c.505G>A (p.Asp169Asn)
|
rs754963933
|
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.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.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.-103C>T
|
rs863224971
|
|
NM_000166.6(GJB1):c.-16-1G>A
|
|
|
NM_000166.6(GJB1):c.-16-35_264del
|
|
|
NM_000166.6(GJB1):c.-16-8_-12del
|
rs2147944724
|
|
NM_000166.6(GJB1):c.-17+2T>G
|
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.100A>G (p.Met34Val)
|
rs1569215061
|
|
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.108G>T (p.Leu36=)
|
rs149350998
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.110T>A (p.Val37Glu)
|
|
|
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.115G>A (p.Ala39Thr)
|
|
|
NM_000166.6(GJB1):c.116C>T (p.Ala39Val)
|
rs786204095
|
|
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.120_121insCCACCAGCT (p.Ala40_Glu41insProProAla)
|
rs1569215082
|
|
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)
|
rs1602348796
|
|
NM_000166.6(GJB1):c.124A>G (p.Ser42Gly)
|
|
|
NM_000166.6(GJB1):c.124_125del (p.Ser42fs)
|
rs1602348794
|
|
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.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>T (p.Asp46Val)
|
rs1602348820
|
|
NM_000166.6(GJB1):c.138T>G (p.Asp46Glu)
|
rs1419095893
|
|
NM_000166.6(GJB1):c.140A>T (p.Glu47Val)
|
rs1602348828
|
|
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.153C>A (p.Phe51Leu)
|
rs2147945283
|
|
NM_000166.6(GJB1):c.157del (p.Cys53fs)
|
|
|
NM_000166.6(GJB1):c.158G>T (p.Cys53Phe)
|
|
|
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>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.171G>A (p.Gln57=)
|
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.178T>C (p.Cys60Arg)
|
rs1060501004
|
|
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)
|
rs1555937082
|
|
NM_000166.6(GJB1):c.17T>C (p.Leu6Ser)
|
rs2092541936
|
|
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.187G>A (p.Val63Ile)
|
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.192C>A (p.Cys64Ter)
|
|
|
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp)
|
rs2147945443
|
|
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>T (p.Asp66Tyr)
|
rs1602348911
|
|
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.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.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.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.218A>G (p.His73Arg)
|
rs748384293
|
|
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.227dup (p.Trp77fs)
|
|
|
NM_000166.6(GJB1):c.228G>A (p.Leu76=)
|
|
|
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.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.240G>T (p.Gln80His)
|
|
|
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.245T>A (p.Ile82Asn)
|
rs2147945641
|
|
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)
|
rs1602349004
|
|
NM_000166.6(GJB1):c.250del (p.Val84fs)
|
rs2147945660
|
|
NM_000166.6(GJB1):c.251T>G (p.Val84Gly)
|
rs1602349008
|
|
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.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.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.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.277A>G (p.Met93Val)
|
rs1602349066
|
|
NM_000166.6(GJB1):c.280C>T (p.His94Tyr)
|
rs1602349087
|
|
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.286G>C (p.Ala96Pro)
|
rs1602349112
|
|
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly)
|
rs11551260
|
|
NM_000166.6(GJB1):c.290A>G (p.His97Arg)
|
rs2147945782
|
|
NM_000166.6(GJB1):c.294G>A (p.Gln98=)
|
rs2147945792
|
|
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.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.304_306del (p.Glu102del)
|
rs1555937135
|
|
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu)
|
rs1131691322
|
|
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>T (p.Lys104Ile)
|
rs1602349166
|
|
NM_000166.6(GJB1):c.316C>G (p.Leu106Val)
|
|
|
NM_000166.6(GJB1):c.316_320del (p.Leu106fs)
|
rs2147945853
|
|
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)
|
rs1602349183
|
|
NM_000166.6(GJB1):c.327G>A (p.Glu109=)
|
|
|
NM_000166.6(GJB1):c.329G>T (p.Gly110Val)
|
|
|
NM_000166.6(GJB1):c.33T>C (p.Ser11=)
|
rs2147944838
|
|
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.359T>A (p.Val120Glu)
|
rs1049663989
|
|
NM_000166.6(GJB1):c.35G>A (p.Gly12Asp)
|
rs1569214985
|
|
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.372G>C (p.Lys124Asn)
|
rs876661119
|
|
NM_000166.6(GJB1):c.372G>T (p.Lys124Asn)
|
|
|
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.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.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>G (p.Trp132Gly)
|
rs1569215263
|
|
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)
|
rs1555937168
|
|
NM_000166.6(GJB1):c.396del (p.Trp132fs)
|
rs879253946
|
|
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
|
rs1602349302
|
|
NM_000166.6(GJB1):c.3G>C (p.Met1Ile)
|
|
|
NM_000166.6(GJB1):c.402C>G (p.Thr134=)
|
|
|
NM_000166.6(GJB1):c.405T>C (p.Tyr135=)
|
|
|
NM_000166.6(GJB1):c.409A>G (p.Ile137Val)
|
|
|
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.41A>T (p.Asn14Ile)
|
rs1569214995
|
|
NM_000166.6(GJB1):c.420G>A (p.Val140=)
|
rs2147946113
|
|
NM_000166.6(GJB1):c.423C>T (p.Phe141=)
|
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
NM_000166.6(GJB1):c.428T>G (p.Leu143Arg)
|
|
|
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)
|
rs1262031967
|
|
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>C (p.Glu146Gln)
|
rs1602349346
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.443_446delinsGAACAC (p.Val148fs)
|
rs2092544789
|
|
NM_000166.6(GJB1):c.447C>A (p.Phe149Leu)
|
rs2147946194
|
|
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.450del (p.Met150fs)
|
|
|
NM_000166.6(GJB1):c.454G>A (p.Val152Ile)
|
|
|
NM_000166.6(GJB1):c.454del (p.Val152fs)
|
rs1602349383
|
|
NM_000166.6(GJB1):c.456_457dup (p.Phe153fs)
|
|
|
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>G (p.Tyr154Ter)
|
rs879254098
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818
|
|
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>T (p.Pro158Leu)
|
rs1602349439
|
|
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.480T>C (p.Tyr160=)
|
|
|
NM_000166.6(GJB1):c.483C>T (p.Ala161=)
|
rs1602349458
|
|
NM_000166.6(GJB1):c.484del (p.Met162fs)
|
rs2147946319
|
|
NM_000166.6(GJB1):c.489G>A (p.Val163=)
|
|
|
NM_000166.6(GJB1):c.491G>T (p.Arg164Leu)
|
rs1241595912
|
|
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
|
rs766201464
|
|
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.509T>G (p.Val170Gly)
|
rs1602349512
|
|
NM_000166.6(GJB1):c.512A>G (p.Tyr171Cys)
|
|
|
NM_000166.6(GJB1):c.513C>G (p.Tyr171Ter)
|
rs2092545247
|
|
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)
|
rs1555937218
|
|
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.521C>G (p.Pro174Arg)
|
rs1602349540
|
|
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.532G>A (p.Asp178Asn)
|
rs1555937223
|
|
NM_000166.6(GJB1):c.533A>C (p.Asp178Ala)
|
rs1555937224
|
|
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)
|
rs1602349591
|
|
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
|
rs1602349603
|
|
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>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.547C>T (p.Arg183Cys)
|
rs863224471
|
|
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
|
rs1555937233
|
|
NM_000166.6(GJB1):c.54T>C (p.Thr18=)
|
|
|
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.556dup (p.Glu186fs)
|
rs1602349655
|
|
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.572C>A (p.Thr191Asn)
|
|
|
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
|
rs776040132
|
|
NM_000166.6(GJB1):c.579C>T (p.Phe193=)
|
|
|
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.591C>T (p.Ala197=)
|
|
|
NM_000166.6(GJB1):c.592T>C (p.Ser198Pro)
|
rs1555937259
|
|
NM_000166.6(GJB1):c.593C>G (p.Ser198Cys)
|
|
|
NM_000166.6(GJB1):c.596G>T (p.Gly199Val)
|
|
|
NM_000166.6(GJB1):c.59T>C (p.Ile20Thr)
|
rs1569215025
|
|
NM_000166.6(GJB1):c.5A>G (p.Asn2Ser)
|
|
|
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.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.614A>G (p.Asn205Ser)
|
rs104894822
|
|
NM_000166.6(GJB1):c.615T>A (p.Asn205Lys)
|
rs2092545880
|
|
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)
|
rs1555937270
|
|
NM_000166.6(GJB1):c.622del (p.Glu208fs)
|
rs2147946914
|
|
NM_000166.6(GJB1):c.625G>T (p.Val209Leu)
|
|
|
NM_000166.6(GJB1):c.629T>A (p.Val210Glu)
|
rs1555937274
|
|
NM_000166.6(GJB1):c.630del (p.Tyr211fs)
|
rs2092546021
|
|
NM_000166.6(GJB1):c.632A>G (p.Tyr211Cys)
|
rs2092546039
|
|
NM_000166.6(GJB1):c.633C>T (p.Tyr211=)
|
rs1569215443
|
|
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.642C>T (p.Ile214=)
|
|
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099
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NM_000166.6(GJB1):c.644G>A (p.Arg215Gln)
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NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)
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rs864622215
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NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
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rs1555937020
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NM_000166.6(GJB1):c.655_670del (p.Arg219fs)
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NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)
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rs104894814
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NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
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rs104894814
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NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)
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rs1057524799
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NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
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NM_000166.6(GJB1):c.668G>A (p.Arg223His)
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rs1218391757
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|
NM_000166.6(GJB1):c.668_675del (p.Arg223fs)
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|
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NM_000166.6(GJB1):c.675C>T (p.Ser225=)
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NM_000166.6(GJB1):c.681A>T (p.Pro227=)
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rs2092546281
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|
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=)
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NM_000166.6(GJB1):c.702C>T (p.Gly234=)
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NM_000166.6(GJB1):c.711C>T (p.His237=)
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NM_000166.6(GJB1):c.713G>T (p.Arg238Leu)
|
rs776206757
|
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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
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|
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)
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|
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NM_000166.6(GJB1):c.744C>A (p.Ile248=)
|
rs2147947224
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NM_000166.6(GJB1):c.759T>C (p.Ser253=)
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|
|
NM_000166.6(GJB1):c.75C>G (p.Leu25=)
|
rs1602348670
|
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NM_000166.6(GJB1):c.762G>A (p.Glu254=)
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|
|
NM_000166.6(GJB1):c.772del (p.Ser258fs)
|
rs1602349940
|
|
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.788T>C (p.Leu263Pro)
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|
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NM_000166.6(GJB1):c.791G>A (p.Arg264His)
|
|
|
NM_000166.6(GJB1):c.803G>C (p.Gly268Ala)
|
|
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NM_000166.6(GJB1):c.804C>T (p.Gly268=)
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|
|
NM_000166.6(GJB1):c.807_808del (p.Ala271fs)
|
rs1602350012
|
|
NM_000166.6(GJB1):c.811G>T (p.Ala271Ser)
|
|
|
NM_000166.6(GJB1):c.816G>A (p.Gly272=)
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|
|
NM_000166.6(GJB1):c.81C>T (p.Val27=)
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|
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NM_000166.6(GJB1):c.825A>G (p.Glu275=)
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|
|
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.836G>T (p.Arg279Leu)
|
|
|
NM_000166.6(GJB1):c.837C>G (p.Arg279=)
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|
|
NM_000166.6(GJB1):c.837C>T (p.Arg279=)
|
rs2092546981
|
|
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.847T>C (p.Cys283Arg)
|
rs2147947497
|
|
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.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.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.-16-511G>T
|
|
|
NM_001097642.3(GJB1):c.-16-513T>C
|
rs1003232768
|
|
NM_001097642.3(GJB1):c.-16-524C>G
|
rs1060501001
|
|
NM_001097642.3(GJB1):c.-16-697G>A
|
rs6525485
|
|