NC_000013.11:g.20192983G>C
|
|
NM_004004.5(GJB2):c.-208G>T
|
rs1555342246
|
NM_004004.5(GJB2):c.-259C>T
|
rs1417111166
|
NM_004004.5(GJB2):c.-260C>T
|
rs886037626
|
NM_004004.6(GJB2):c.*1016A>G
|
rs537683957
|
NM_004004.6(GJB2):c.*1033G>A
|
rs185790172
|
NM_004004.6(GJB2):c.*1040A>G
|
|
NM_004004.6(GJB2):c.*114T>C
|
rs182085649
|
NM_004004.6(GJB2):c.*115A>C
|
|
NM_004004.6(GJB2):c.*1206T>G
|
rs886050026
|
NM_004004.6(GJB2):c.*1291_*1294del
|
rs886050025
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
NM_004004.6(GJB2):c.*236A>T
|
|
NM_004004.6(GJB2):c.*308G>A
|
|
NM_004004.6(GJB2):c.*385G>C
|
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
NM_004004.6(GJB2):c.*412A>C
|
rs547859391
|
NM_004004.6(GJB2):c.*423C>T
|
rs112457424
|
NM_004004.6(GJB2):c.*482A>G
|
rs886050028
|
NM_004004.6(GJB2):c.*4A>G
|
|
NM_004004.6(GJB2):c.*52C>T
|
|
NM_004004.6(GJB2):c.*544T>C
|
rs564755659
|
NM_004004.6(GJB2):c.*550A>G
|
|
NM_004004.6(GJB2):c.*598C>A
|
rs550600399
|
NM_004004.6(GJB2):c.*679T>C
|
|
NM_004004.6(GJB2):c.*786G>A
|
rs187158699
|
NM_004004.6(GJB2):c.*800A>G
|
rs886050027
|
NM_004004.6(GJB2):c.*979A>G
|
rs546826225
|
NM_004004.6(GJB2):c.-112A>C
|
rs1555342240
|
NM_004004.6(GJB2):c.-127G>C
|
rs727503068
|
NM_004004.6(GJB2):c.-12C>T
|
|
NM_004004.6(GJB2):c.-16C>T
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|
NM_004004.6(GJB2):c.-170C>G
|
|
NM_004004.6(GJB2):c.-173G>C
|
|
NM_004004.6(GJB2):c.-1G>A
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|
NM_004004.6(GJB2):c.-22-12C>G
|
rs9578260
|
NM_004004.6(GJB2):c.-22-18T>A
|
rs778602324
|
NM_004004.6(GJB2):c.-22-1G>A
|
rs551625098
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
NM_004004.6(GJB2):c.-22-2A>G
|
rs201895089
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
NM_004004.6(GJB2):c.-22-7T>C
|
|
NM_004004.6(GJB2):c.-263C>G
|
|
NM_004004.6(GJB2):c.-30C>T
|
rs397516867
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
NM_004004.6(GJB2):c.-47C>G
|
rs1555342239
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
NM_004004.6(GJB2):c.-7G>A
|
rs398123813
|
NM_004004.6(GJB2):c.100A>T (p.Met34Leu)
|
rs564084861
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)
|
rs587783644
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
NM_004004.6(GJB2):c.111_113del (p.Val38del)
|
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
|
rs781085903
|
NM_004004.6(GJB2):c.154G>C (p.Val52Leu)
|
rs1555341987
|
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg)
|
rs1555341986
|
NM_004004.6(GJB2):c.171G>A (p.Gln57=)
|
rs1064797175
|
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
|
|
NM_004004.6(GJB2):c.187G>A (p.Val63Met)
|
rs370696868
|
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
|
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr)
|
rs1373154561
|
NM_004004.6(GJB2):c.221T>C (p.Ile74Thr)
|
|
NM_004004.6(GJB2):c.226C>G (p.Leu76Val)
|
rs1566528748
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser)
|
|
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro)
|
rs1555341957
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)
|
rs145216882
|
NM_004004.6(GJB2):c.24G>A (p.Thr8=)
|
rs533231493
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
NM_004004.6(GJB2):c.257C>T (p.Thr86Met)
|
rs1291519904
|
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu)
|
rs1555341946
|
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly)
|
rs1555341945
|
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)
|
rs765921870
|
NM_004004.6(GJB2):c.275C>T (p.Ala92Val)
|
|
NM_004004.6(GJB2):c.278T>C (p.Met93Thr)
|
rs1461894310
|
NM_004004.6(GJB2):c.280C>T (p.His94Tyr)
|
rs1593351383
|
NM_004004.6(GJB2):c.281A>T (p.His94Leu)
|
rs397516872
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
|
|
NM_004004.6(GJB2):c.29T>C (p.Leu10Pro)
|
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
NM_004004.6(GJB2):c.301_303del (p.Glu101del)
|
rs1555341937
|
NM_004004.6(GJB2):c.302_304AGA[2] (p.Lys103del)
|
rs1555341934
|
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu)
|
rs779358271
|
NM_004004.6(GJB2):c.322A>G (p.Lys108Glu)
|
|
NM_004004.6(GJB2):c.32_45del (p.Gly11fs)
|
rs1290698257
|
NM_004004.6(GJB2):c.331A>G (p.Ile111Val)
|
rs1003660637
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly)
|
rs111033441
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)
|
rs528216023
|
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)
|
rs1801002
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
NM_004004.6(GJB2):c.362T>C (p.Ile121Thr)
|
|
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
|
rs768130937
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
NM_004004.6(GJB2):c.38T>G (p.Val13Gly)
|
rs1593351795
|
NM_004004.6(GJB2):c.401_403del (p.Trp134_Thr135delinsSer)
|
rs1555341910
|
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)
|
rs1555341907
|
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser)
|
rs116769964
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del)
|
rs1555341874
|
NM_004004.6(GJB2):c.470T>C (p.Met157Thr)
|
rs727504789
|
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)
|
rs373684994
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
NM_004004.6(GJB2):c.487A>C (p.Met163Leu)
|
rs80338949
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
NM_004004.6(GJB2):c.488T>C (p.Met163Thr)
|
rs1273330603
|
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
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
NM_004004.6(GJB2):c.512C>T (p.Ala171Val)
|
rs1555341850
|
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)
|
rs770330002
|
NM_004004.6(GJB2):c.518C>T (p.Pro173Leu)
|
rs1555341843
|
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser)
|
rs1555341840
|
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)
|
rs1275901105
|
NM_004004.6(GJB2):c.535G>C (p.Asp179His)
|
rs28931595
|
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser)
|
rs1566529035
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
|
|
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)
|
rs1451982228
|
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)
|
rs1131691709
|
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn)
|
rs199790409
|
NM_004004.6(GJB2):c.569T>A (p.Val190Asp)
|
|
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.582C>T (p.Phe194=)
|
rs794727271
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
NM_004004.6(GJB2):c.585G>A (p.Met195Ile)
|
rs570552952
|
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
|
rs765172751
|
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)
|
rs749693224
|
NM_004004.6(GJB2):c.628T>C (p.Leu210=)
|
rs1036073348
|
NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)
|
rs752812448
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter)
|
rs766975999
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)
|
rs1555341782
|
NM_004004.6(GJB2):c.677T>A (p.Val226Asp)
|
rs773846324
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
NM_004004.6(GJB2):c.73C>T (p.Leu25Phe)
|
rs1555342006
|
NM_004004.6(GJB2):c.77_106dup (p.Leu36_Val37insProValLeuPheIlePheArgIleMetIle)
|
rs398123815
|
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)
|
rs374625633
|
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys)
|
|