NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)
|
rs201399007
|
0.00091
|
NM_000166.6(GJB1):c.*277A>G
|
rs759936874
|
0.00026
|
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)
|
rs201711375
|
0.00010
|
NM_000166.6(GJB1):c.*402G>A
|
rs753223616
|
0.00009
|
NM_005391.5(PDK3):c.562G>A (p.Asp188Asn)
|
rs1165981822
|
0.00009
|
NM_000166.6(GJB1):c.-128G>A
|
rs1057515983
|
0.00007
|
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
|
rs898354567
|
0.00006
|
NM_005391.5(PDK3):c.820G>A (p.Val274Ile)
|
rs773597771
|
0.00004
|
NM_000166.6(GJB1):c.*22C>T
|
rs745547989
|
0.00003
|
NM_000166.6(GJB1):c.565G>A (p.Val189Ile)
|
rs770116247
|
0.00003
|
NM_002764.4(PRPS1):c.611G>A (p.Arg204His)
|
rs1169615098
|
0.00003
|
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
|
rs748095370
|
0.00002
|
NM_005391.5(PDK3):c.1126G>A (p.Ala376Thr)
|
rs781166988
|
0.00002
|
NM_005391.5(PDK3):c.1211C>T (p.Ala404Val)
|
rs375862167
|
0.00002
|
NM_000166.6(GJB1):c.*443G>A
|
rs533182215
|
0.00001
|
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)
|
rs1426533412
|
0.00001
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)
|
rs761953453
|
0.00001
|
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)
|
rs1375125488
|
0.00001
|
NM_005391.5(PDK3):c.1148C>T (p.Thr383Met)
|
rs1442646183
|
0.00001
|
NM_005391.5(PDK3):c.1205A>G (p.Tyr402Cys)
|
rs762702094
|
0.00001
|
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
|
rs757407648
|
0.00001
|
NM_005391.5(PDK3):c.160C>T (p.Pro54Ser)
|
rs1569221445
|
0.00001
|
NM_005391.5(PDK3):c.203C>T (p.Pro68Leu)
|
rs373610926
|
0.00001
|
NM_005391.5(PDK3):c.320+6T>C
|
rs748960946
|
0.00001
|
NM_005391.5(PDK3):c.338T>C (p.Ile113Thr)
|
rs1569223291
|
0.00001
|
NM_005391.5(PDK3):c.427A>G (p.Ile143Val)
|
rs1057438680
|
0.00001
|
NM_005391.5(PDK3):c.474C>T (p.Arg158=)
|
rs756879455
|
0.00001
|
NM_005391.5(PDK3):c.577G>A (p.Val193Met)
|
rs764909872
|
0.00001
|
NM_005391.5(PDK3):c.595+3A>G
|
rs1227104182
|
0.00001
|
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
|
rs1051776582
|
0.00001
|
NM_005391.5(PDK3):c.811A>G (p.Lys271Glu)
|
rs1569227273
|
0.00001
|
NM_005391.5(PDK3):c.883C>A (p.Arg295=)
|
rs868382375
|
0.00001
|
NC_000023.10:g.(?_24483553)_(24557301_?)dup
|
|
|
NC_000023.10:g.(?_24483563)_(24557291_?)dup
|
|
|
NC_000023.10:g.(?_24483573)_(24483698_?)del
|
|
|
NC_000023.10:g.(?_24483573)_(24557281_?)del
|
|
|
NC_000023.10:g.(?_24512849)_(24537137_?)dup
|
|
|
NC_000023.10:g.(?_24544295)_(24557281_?)dup
|
|
|
NC_000023.10:g.(?_24549754)_(24549907_?)del
|
|
|
NC_000023.11:g.(?_24465436)_(24465581_?)del
|
|
|
NC_000023.11:g.(?_24494722)_(24539184_?)del
|
|
|
NM_000166.6(GJB1):c.*50G>C
|
rs2092547330
|
|
NM_000166.6(GJB1):c.-102G>A
|
rs753207004
|
|
NM_000166.6(GJB1):c.110del (p.Val37fs)
|
rs1602348754
|
|
NM_000166.6(GJB1):c.116del (p.Ala39fs)
|
rs1602348779
|
|
NM_000166.6(GJB1):c.124_125del (p.Ser42fs)
|
rs1602348794
|
|
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)
|
rs879253935
|
|
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)
|
rs1602348833
|
|
NM_000166.6(GJB1):c.155del (p.Ile52fs)
|
rs1602348856
|
|
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)
|
rs1555937082
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
|
rs1602348907
|
|
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
|
rs1602348913
|
|
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
|
rs1602348930
|
|
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
|
rs1602348918
|
|
NM_000166.6(GJB1):c.217del (p.His73fs)
|
rs1602348937
|
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820
|
|
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)
|
rs879254096
|
|
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
|
rs1602348981
|
|
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
|
rs1602349000
|
|
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
|
rs1602349014
|
|
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.277_278del (p.Met93fs)
|
rs1602349068
|
|
NM_000166.6(GJB1):c.287C>T (p.Ala96Val)
|
rs11551260
|
|
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
|
rs1602349121
|
|
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.313del (p.Met105fs)
|
rs1602349163
|
|
NM_000166.6(GJB1):c.324dup (p.Glu109Ter)
|
rs1555937143
|
|
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.355G>T (p.Glu119Ter)
|
rs1602349226
|
|
NM_000166.6(GJB1):c.358_360del (p.Val120del)
|
rs1602349233
|
|
NM_000166.6(GJB1):c.371del (p.Lys124fs)
|
rs1602349248
|
|
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.394_395del (p.Trp132fs)
|
rs1555937168
|
|
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)
|
rs1602349293
|
|
NM_000166.6(GJB1):c.397del (p.Trp133fs)
|
rs1602349299
|
|
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
|
rs1602349302
|
|
NM_000166.6(GJB1):c.410del (p.Ile137fs)
|
rs1602349316
|
|
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
|
rs1602349322
|
|
NM_000166.6(GJB1):c.424del (p.Arg142fs)
|
rs1602349328
|
|
NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del)
|
rs1602349339
|
|
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
|
rs1602348598
|
|
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
|
rs1602349347
|
|
NM_000166.6(GJB1):c.439del (p.Ala147fs)
|
rs1602349352
|
|
NM_000166.6(GJB1):c.43del (p.Arg15fs)
|
rs1602348594
|
|
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
|
rs1602348605
|
|
NM_000166.6(GJB1):c.454del (p.Val152fs)
|
rs1602349383
|
|
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.463C>A (p.Leu155Met)
|
rs1057515984
|
|
NM_000166.6(GJB1):c.474del (p.Gly159fs)
|
rs1602349441
|
|
NM_000166.6(GJB1):c.484dup (p.Met162fs)
|
rs1602349460
|
|
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
|
rs1602349473
|
|
NM_000166.6(GJB1):c.524dup (p.Asn175fs)
|
rs1569215346
|
|
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
|
rs1602349585
|
|
NM_000166.6(GJB1):c.553_555del (p.Thr185del)
|
rs1602349648
|
|
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)
|
rs116840821
|
|
NM_000166.6(GJB1):c.571dup (p.Thr191fs)
|
rs1602349676
|
|
NM_000166.6(GJB1):c.573_574insTCA (p.Thr191_Val192insSer)
|
rs1602349684
|
|
NM_000166.6(GJB1):c.576del (p.Phe193fs)
|
rs1602349692
|
|
NM_000166.6(GJB1):c.596G>A (p.Gly199Asp)
|
rs2147946811
|
|
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
|
rs1569215025
|
|
NM_000166.6(GJB1):c.606del (p.Ile203fs)
|
rs1602349746
|
|
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.622del (p.Glu208fs)
|
rs2147946914
|
|
NM_000166.6(GJB1):c.625GTG[1] (p.Val210del)
|
rs1602349772
|
|
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
|
rs1602349779
|
|
NM_000166.6(GJB1):c.62del (p.Gly21fs)
|
rs1602348638
|
|
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)
|
rs1569215443
|
|
NM_000166.6(GJB1):c.634del (p.Leu212fs)
|
rs1602349791
|
|
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)
|
rs1602349807
|
|
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)
|
rs2147947019
|
|
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.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
|
rs760150310
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662
|
|
NM_000166.6(GJB1):c.761dup (p.Gln255fs)
|
rs1602349920
|
|
NM_000166.6(GJB1):c.772del (p.Ser258fs)
|
rs1602349940
|
|
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)
|
rs1602349948
|
|
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)
|
rs587777876
|
|
NM_000166.6(GJB1):c.77del (p.Ser26fs)
|
rs1602348679
|
|
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
|
rs1602349962
|
|
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.800del (p.Pro267fs)
|
rs1602350003
|
|
NM_000166.6(GJB1):c.822del (p.Glu275fs)
|
rs1602350029
|
|
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter)
|
rs866253945
|
|
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
|
rs1602350062
|
|
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.89T>C (p.Ile30Thr)
|
rs104894817
|
|
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)
|
rs1555936989
|
|
NM_001097642.3(GJB1):c.-16-475C>G
|
rs2092540944
|
|
NM_001142386.3(PDK3):c.1218A>G (p.Gln406=)
|
|
|
NM_001142386.3(PDK3):c.1226T>C (p.Ile409Thr)
|
|
|
NM_001939.3(DRP2):c.2159G>A (p.Arg720Gln)
|
|
|
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile)
|
rs2147682370
|
|
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys)
|
rs1603223158
|
|
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)
|
rs1057518895
|
|
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val)
|
rs281864468
|
|
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1])
|
rs2030881306
|
|
NM_004208.4(AIFM1):c.623C>T (p.Pro208Leu)
|
|
|
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu)
|
rs1603225138
|
|
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu)
|
rs1603224226
|
|
NM_005391.5(PDK3):c.1028A>C (p.Lys343Thr)
|
rs2148203320
|
|
NM_005391.5(PDK3):c.106+14_106+15dup
|
rs1940055207
|
|
NM_005391.5(PDK3):c.1077+2T>G
|
|
|
NM_005391.5(PDK3):c.1079C>T (p.Ala360Val)
|
rs1569228203
|
|
NM_005391.5(PDK3):c.1087dup (p.Ser363fs)
|
rs1569228214
|
|
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
|
rs1922715042
|
|
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
|
rs1922715462
|
|
NM_005391.5(PDK3):c.1159G>A (p.Asp387Asn)
|
|
|
NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu)
|
rs761831322
|
|
NM_005391.5(PDK3):c.1193A>G (p.Asp398Gly)
|
|
|
NM_005391.5(PDK3):c.1202A>G (p.Lys401Arg)
|
rs371788046
|
|
NM_005391.5(PDK3):c.1213A>G (p.Lys405Glu)
|
|
|
NM_005391.5(PDK3):c.1217del (p.Gln406fs)
|
|
|
NM_005391.5(PDK3):c.1218dup (p.Ter407ValextTer?)
|
rs2148204361
|
|
NM_005391.5(PDK3):c.132_134del (p.Ser45del)
|
|
|
NM_005391.5(PDK3):c.137A>G (p.Tyr46Cys)
|
rs2148188298
|
|
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
|
rs1940054079
|
|
NM_005391.5(PDK3):c.149_158dup (p.Pro54fs)
|
|
|
NM_005391.5(PDK3):c.18G>C (p.Trp6Cys)
|
rs2148176546
|
|
NM_005391.5(PDK3):c.217_226del (p.Asn73fs)
|
|
|
NM_005391.5(PDK3):c.220C>T (p.Arg74Cys)
|
|
|
NM_005391.5(PDK3):c.221G>A (p.Arg74His)
|
|
|
NM_005391.5(PDK3):c.223C>A (p.Pro75Thr)
|
rs2148188335
|
|
NM_005391.5(PDK3):c.23T>C (p.Leu8Pro)
|
|
|
NM_005391.5(PDK3):c.248+3A>G
|
|
|
NM_005391.5(PDK3):c.293G>A (p.Ser98Asn)
|
|
|
NM_005391.5(PDK3):c.302A>G (p.Asp101Gly)
|
|
|
NM_005391.5(PDK3):c.308A>G (p.Gln103Arg)
|
rs2148190126
|
|
NM_005391.5(PDK3):c.316G>A (p.Asp106Asn)
|
|
|
NM_005391.5(PDK3):c.321-3C>T
|
|
|
NM_005391.5(PDK3):c.335T>C (p.Leu112Pro)
|
rs2148191720
|
|
NM_005391.5(PDK3):c.340A>G (p.Lys114Glu)
|
|
|
NM_005391.5(PDK3):c.355C>T (p.His119Tyr)
|
|
|
NM_005391.5(PDK3):c.382C>A (p.Gln128Lys)
|
|
|
NM_005391.5(PDK3):c.382C>G (p.Gln128Glu)
|
|
|
NM_005391.5(PDK3):c.392T>C (p.Ile131Thr)
|
|
|
NM_005391.5(PDK3):c.434C>G (p.Thr145Ser)
|
|
|
NM_005391.5(PDK3):c.472C>G (p.Arg158Gly)
|
|
|
NM_005391.5(PDK3):c.485G>A (p.Arg162His)
|
rs867468579
|
|
NM_005391.5(PDK3):c.49G>C (p.Glu17Gln)
|
rs2148176569
|
|
NM_005391.5(PDK3):c.505+3A>T
|
rs1921912997
|
|
NM_005391.5(PDK3):c.521del (p.Gly174fs)
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NM_005391.5(PDK3):c.577G>C (p.Val193Leu)
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rs764909872
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NM_005391.5(PDK3):c.596A>G (p.Asp199Gly)
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NM_005391.5(PDK3):c.597del (p.Asp199fs)
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rs1569225940
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NM_005391.5(PDK3):c.608C>G (p.Thr203Arg)
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rs1555949588
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NM_005391.5(PDK3):c.674-5T>G
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rs2148201118
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NM_005391.5(PDK3):c.707A>G (p.Tyr236Cys)
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rs2148201163
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NM_005391.5(PDK3):c.836A>G (p.Glu279Gly)
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rs2148201759
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NM_005391.5(PDK3):c.86T>A (p.Ile29Asn)
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NM_005391.5(PDK3):c.895C>T (p.Arg299Cys)
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NM_005391.5(PDK3):c.896G>A (p.Arg299His)
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NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
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rs1922567942
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NM_005391.5(PDK3):c.974G>T (p.Gly325Val)
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