NM_004004.6(GJB2):c.*1277T>C
|
rs7988691
|
0.99748
|
NM_004004.6(GJB2):c.*1152G>A
|
rs7623
|
0.89599
|
NM_004004.6(GJB2):c.*84T>C
|
rs3751385
|
0.73662
|
NM_001127.4(AP1B1):c.204A>G (p.Leu68=)
|
rs2072051
|
0.63578
|
NM_004004.6(GJB2):c.-22-12C>T
|
rs9578260
|
0.07478
|
NM_004004.6(GJB2):c.*111C>T
|
rs7329857
|
0.06802
|
NM_004004.6(GJB2):c.*104A>T
|
rs7337074
|
0.06800
|
NM_004004.5(GJB2):c.*1447G>A
|
rs11839674
|
0.04460
|
NM_004004.6(GJB2):c.*1197T>A
|
rs11841182
|
0.04451
|
NM_004004.6(GJB2):c.*168A>G
|
rs55704559
|
0.04011
|
NM_004004.6(GJB2):c.*931C>T
|
rs5030700
|
0.03992
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
NM_004004.6(GJB2):c.-15C>T
|
rs72561725
|
0.01589
|
NM_004004.6(GJB2):c.-216T>G
|
rs574815423
|
0.01243
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_004004.6(GJB2):c.*786G>A
|
rs187158699
|
0.00347
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_004004.6(GJB2):c.*1016A>G
|
rs537683957
|
0.00158
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
0.00129
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_004004.6(GJB2):c.*115A>C
|
rs557953001
|
0.00058
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_004004.6(GJB2):c.*423C>T
|
rs112457424
|
0.00029
|
NM_004004.6(GJB2):c.*598C>A
|
rs550600399
|
0.00029
|
NM_004004.6(GJB2):c.*1033G>A
|
rs185790172
|
0.00026
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)
|
rs145216882
|
0.00015
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_004004.6(GJB2):c.*114T>C
|
rs182085649
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_004004.6(GJB2):c.*800A>G
|
rs886050027
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
|
rs768130937
|
0.00010
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004004.6(GJB2):c.-1G>A
|
rs768338285
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)
|
rs374572413
|
0.00005
|
NM_004004.6(GJB2):c.*1040A>G
|
rs1370756376
|
0.00004
|
NM_004004.6(GJB2):c.*236A>T
|
rs922232025
|
0.00004
|
NM_004004.6(GJB2):c.*308G>A
|
rs886090162
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
|
rs765172751
|
0.00004
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
0.00004
|
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)
|
rs374625633
|
0.00004
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.195C>T (p.Tyr65=)
|
rs763572195
|
0.00003
|
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
|
rs201839979
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp)
|
rs1160266009
|
0.00001
|
NM_004004.6(GJB2):c.*550A>G
|
rs1959051090
|
0.00001
|
NM_004004.6(GJB2):c.*679T>C
|
rs1006432105
|
0.00001
|
NM_004004.6(GJB2):c.*979A>G
|
rs546826225
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
|
rs781085903
|
0.00001
|
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
|
rs778922005
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
rs104894403
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)
|
rs375759781
|
0.00001
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
0.00001
|
NM_004004.6(GJB2):c.512C>T (p.Ala171Val)
|
rs1555341850
|
0.00001
|
NM_004004.6(GJB2):c.546G>A (p.Val182=)
|
rs752236261
|
0.00001
|
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
|
rs753674300
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)
|
rs749693224
|
0.00001
|
NC_000022.10:g.29758984_29815476del
|
|
|
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)
|
rs2147978539
|
|
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter)
|
rs1334834057
|
|
NM_001127.4(AP1B1):c.2335del (p.Leu779fs)
|
rs1602683532
|
|
NM_001127.4(AP1B1):c.2349G>A (p.Ala783=)
|
rs174765
|
|
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter)
|
rs780548317
|
|
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)
|
|
|
NM_001127.4(AP1B1):c.2T>C (p.Met1Thr)
|
rs2148022135
|
|
NM_001127.4(AP1B1):c.38-1G>A
|
rs1602761438
|
|
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg)
|
rs1602749299
|
|
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro)
|
rs2147995205
|
|
NM_004004.6(GJB2):c.*1067G>T
|
rs9237
|
|
NM_004004.6(GJB2):c.*1206T>G
|
rs886050026
|
|
NM_004004.6(GJB2):c.*1291_*1294del
|
rs886050025
|
|
NM_004004.6(GJB2):c.*385G>C
|
rs1959052059
|
|
NM_004004.6(GJB2):c.*412A>C
|
rs547859391
|
|
NM_004004.6(GJB2):c.*482A>G
|
rs886050028
|
|
NM_004004.6(GJB2):c.*52C>T
|
rs1959054328
|
|
NM_004004.6(GJB2):c.*544T>C
|
rs564755659
|
|
NM_004004.6(GJB2):c.-170C>G
|
rs1006263046
|
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
|
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr)
|
rs28931594
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.244A>G (p.Ile82Val)
|
rs1566528711
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg)
|
rs104894408
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)
|
rs727503066
|
|
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)
|
rs878853241
|
|
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe)
|
rs28929485
|
|
NM_004004.6(GJB2):c.524C>G (p.Pro175Arg)
|
rs2137307322
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004004.6(GJB2):c.645del (p.Arg216fs)
|
rs1555341794
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|