NC_000013.11:g.20192983G>C
|
|
NM_004004.5(GJB2):c.-208G>T
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rs1555342246
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NM_004004.5(GJB2):c.-216T>G
|
rs574815423
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NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs)
|
rs111033335
|
NM_004004.5(GJB2):c.[79G>A;341A>G]
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|
NM_004004.6(GJB2):c.*1C>T
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rs111033327
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NM_004004.6(GJB2):c.*3C>A
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rs111033460
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NM_004004.6(GJB2):c.-127G>C
|
rs727503068
|
NM_004004.6(GJB2):c.-15C>T
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rs72561725
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NM_004004.6(GJB2):c.-174C>G
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rs541058463
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NM_004004.6(GJB2):c.-22-12C>T
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rs9578260
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NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
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NM_004004.6(GJB2):c.-23+12G>A
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rs397516866
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NM_004004.6(GJB2):c.-23+1G>A
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rs80338940
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NM_004004.6(GJB2):c.-23G>T
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rs786204734
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NM_004004.6(GJB2):c.-30C>T
|
rs397516867
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NM_004004.6(GJB2):c.-45C>A
|
rs397516868
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NM_004004.6(GJB2):c.-6T>A
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rs148136545
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NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
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rs35887622
|
NM_004004.6(GJB2):c.101T>G (p.Met34Arg)
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rs35887622
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NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
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rs72474224
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NM_004004.6(GJB2):c.109G>T (p.Val37Phe)
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rs72474224
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NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
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rs141774369
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NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)
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rs111033296
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NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
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NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
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rs1326514987
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NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
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rs104894398
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NM_004004.6(GJB2):c.167del (p.Leu56fs)
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rs80338942
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NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
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rs111033297
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NM_004004.6(GJB2):c.176G>A (p.Gly59Asp)
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rs104894404
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NM_004004.6(GJB2):c.186C>T (p.Asn62=)
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rs397516869
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NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
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rs727504309
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NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
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rs111033203
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NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
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rs111033451
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NM_004004.6(GJB2):c.1A>G (p.Met1Val)
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rs111033293
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NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys)
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rs397516870
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NM_004004.6(GJB2):c.219C>T (p.His73=)
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rs727504755
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NM_004004.6(GJB2):c.21G>A (p.Gln7=)
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rs137932057
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NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
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rs104894402
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NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
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rs28931593
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NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
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rs111033361
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NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
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rs104894397
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NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)
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rs104894395
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NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
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rs80338944
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NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
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rs727504302
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NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
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rs111033218
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
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rs104894409
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
NM_004004.6(GJB2):c.267C>G (p.Leu89=)
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rs727503067
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
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rs80338945
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NM_004004.6(GJB2):c.269dup (p.Val91fs)
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rs730880338
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NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
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rs397516871
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NM_004004.6(GJB2):c.280C>T (p.His94Tyr)
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rs1593351383
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NM_004004.6(GJB2):c.281A>T (p.His94Leu)
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rs397516872
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NM_004004.6(GJB2):c.283G>A (p.Val95Met)
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rs111033299
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NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
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rs143343083
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NM_004004.6(GJB2):c.299_300del (p.His100fs)
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rs111033204
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NM_004004.6(GJB2):c.300T>C (p.His100=)
|
rs1317569039
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NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
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NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
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rs397516873
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NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
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rs756484720
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NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
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rs2274083
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NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly)
|
rs111033441
|
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del)
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rs80338947
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NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
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rs1801002
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NM_004004.6(GJB2):c.35del (p.Gly12fs)
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rs80338939
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NM_004004.6(GJB2):c.35dup (p.Val13fs)
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rs80338939
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NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
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rs111033295
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NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
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rs111033188
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NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
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rs397516874
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NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)
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rs727503066
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NM_004004.6(GJB2):c.380G>A (p.Arg127His)
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rs111033196
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NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
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rs111033196
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NM_004004.6(GJB2):c.384C>T (p.Ile128=)
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rs111033298
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NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
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rs397516875
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NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
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rs779018464
|
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly)
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rs397516876
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
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rs76434661
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NM_004004.6(GJB2):c.426C>A (p.Phe142Leu)
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rs397516877
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NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
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rs767178508
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NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
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NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
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NM_004004.6(GJB2):c.470T>C (p.Met157Thr)
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rs727504789
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NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
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NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys)
|
rs28929485
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NM_004004.6(GJB2):c.510C>T (p.Asn170=)
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rs763068053
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NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
NM_004004.6(GJB2):c.523_533del (p.Pro175fs)
|
rs876657693
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)
|
rs770116143
|
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn)
|
rs199790409
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
NM_004004.6(GJB2):c.645del (p.Arg216fs)
|
rs1555341794
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
NM_004004.6(GJB2):c.78C>T (p.Thr26=)
|
rs201848820
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
NM_004004.6(GJB2):c.95G>A (p.Arg32His)
|
rs111033190
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|