NM_139343.2(BIN1):c.*501G>A
|
rs77059199
|
0.02237
|
NM_001005361.3(DNM2):c.235+12C>A
|
rs147026993
|
0.00953
|
NM_139343.3(BIN1):c.1263+11C>T
|
rs78967885
|
0.00935
|
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)
|
rs138047593
|
0.00841
|
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe)
|
rs77314619
|
0.00575
|
NM_139343.3(BIN1):c.1132-7T>C
|
rs115938552
|
0.00498
|
NM_139343.3(BIN1):c.888C>T (p.Ser296=)
|
rs114833236
|
0.00403
|
NM_139343.3(BIN1):c.384G>A (p.Thr128=)
|
rs61748158
|
0.00203
|
NM_139343.2(BIN1):c.-314G>C
|
rs531361957
|
0.00163
|
NM_001005361.3(DNM2):c.*185A>C
|
rs570774479
|
0.00135
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)
|
rs28928909
|
0.00121
|
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln)
|
rs181222936
|
0.00113
|
NM_139343.3(BIN1):c.30G>A (p.Thr10=)
|
rs35535012
|
0.00067
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00063
|
NM_139343.3(BIN1):c.*22C>T
|
rs200108564
|
0.00046
|
NM_139343.3(BIN1):c.*303A>G
|
rs766515815
|
0.00041
|
NM_139343.3(BIN1):c.1629T>G (p.Ala543=)
|
rs143258043
|
0.00041
|
NM_001005361.3(DNM2):c.*88C>G
|
rs886054143
|
0.00038
|
NM_001005361.3(DNM2):c.*82C>T
|
rs569502521
|
0.00036
|
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)
|
rs146573197
|
0.00036
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
NM_139343.3(BIN1):c.906C>T (p.Gly302=)
|
rs371258305
|
0.00031
|
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys)
|
rs55646900
|
0.00027
|
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His)
|
rs200154277
|
0.00026
|
NM_005876.5(SPEG):c.1301G>A (p.Arg434His)
|
rs924342297
|
0.00025
|
NM_139343.3(BIN1):c.*418C>T
|
rs779551565
|
0.00025
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln)
|
rs200847303
|
0.00024
|
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg)
|
rs557276019
|
0.00021
|
NM_001005361.3(DNM2):c.*79G>A
|
rs550692861
|
0.00020
|
NM_002469.3(MYF6):c.184G>A (p.Val62Ile)
|
rs190471225
|
0.00019
|
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser)
|
rs544959269
|
0.00019
|
NM_139343.3(BIN1):c.-105G>C
|
rs575072529
|
0.00019
|
NM_139343.3(BIN1):c.1143G>A (p.Pro381=)
|
rs372360787
|
0.00018
|
NM_001378030.1(CCDC78):c.1054-3T>C
|
rs371542042
|
0.00016
|
NM_001378030.1(CCDC78):c.268-3C>T
|
rs371386354
|
0.00016
|
NM_002469.3(MYF6):c.288A>T (p.Lys96Asn)
|
rs377370090
|
0.00016
|
NM_005876.5(SPEG):c.206C>T (p.Thr69Met)
|
rs768017689
|
0.00016
|
NM_139343.3(BIN1):c.1003-13C>T
|
rs374490688
|
0.00016
|
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr)
|
rs200887814
|
0.00016
|
NM_139343.3(BIN1):c.1480G>A (p.Val494Met)
|
rs144459969
|
0.00016
|
NM_001378030.1(CCDC78):c.1103G>A (p.Gly368Glu)
|
rs145971446
|
0.00015
|
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu)
|
rs148705181
|
0.00015
|
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp)
|
rs370009561
|
0.00015
|
NM_001005361.3(DNM2):c.822G>A (p.Thr274=)
|
rs201763720
|
0.00014
|
NM_139343.3(BIN1):c.1003-11C>G
|
rs759676621
|
0.00014
|
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp)
|
rs76037557
|
0.00014
|
NM_139343.3(BIN1):c.681G>A (p.Leu227=)
|
rs199658397
|
0.00014
|
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)
|
rs371412466
|
0.00013
|
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg)
|
rs200114716
|
0.00013
|
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)
|
rs376076241
|
0.00012
|
NM_139343.2(BIN1):c.-214T>G
|
rs886054841
|
0.00012
|
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)
|
rs587783806
|
0.00011
|
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr)
|
rs144624081
|
0.00011
|
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg)
|
rs147899031
|
0.00011
|
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp)
|
rs200865845
|
0.00011
|
NM_002469.3(MYF6):c.575A>C (p.Asp192Ala)
|
rs146824657
|
0.00011
|
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys)
|
rs374565677
|
0.00011
|
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys)
|
rs370998388
|
0.00010
|
NM_139343.3(BIN1):c.1047G>A (p.Pro349=)
|
rs148945502
|
0.00010
|
NM_139343.3(BIN1):c.857+4C>T
|
rs61748156
|
0.00010
|
NM_139343.3(BIN1):c.942C>T (p.His314=)
|
rs370911793
|
0.00010
|
NM_001005361.3(DNM2):c.*391C>T
|
rs886054147
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln)
|
rs771507948
|
0.00009
|
NM_139343.3(BIN1):c.*470A>C
|
rs984385783
|
0.00009
|
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met)
|
rs754678339
|
0.00009
|
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser)
|
rs372072916
|
0.00009
|
NM_001378030.1(CCDC78):c.104G>A (p.Gly35Asp)
|
rs929692414
|
0.00008
|
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp)
|
rs369081589
|
0.00008
|
NM_001378030.1(CCDC78):c.389G>A (p.Arg130Lys)
|
rs375016420
|
0.00007
|
NM_002469.3(MYF6):c.683C>T (p.Ser228Leu)
|
rs201098963
|
0.00007
|
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly)
|
rs375322787
|
0.00007
|
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu)
|
rs753599819
|
0.00007
|
NM_000252.3(MTM1):c.481G>A (p.Val161Met)
|
rs782744530
|
0.00006
|
NM_001005361.3(DNM2):c.*373G>A
|
rs906210543
|
0.00006
|
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)
|
rs554971107
|
0.00006
|
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu)
|
rs144640928
|
0.00006
|
NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met)
|
rs142129985
|
0.00006
|
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)
|
rs368147684
|
0.00006
|
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val)
|
rs199971371
|
0.00006
|
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys)
|
rs570861370
|
0.00006
|
NM_139343.3(BIN1):c.*1C>T
|
rs770804438
|
0.00006
|
NM_139343.3(BIN1):c.-163T>C
|
rs560690864
|
0.00006
|
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu)
|
rs558530329
|
0.00006
|
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met)
|
rs747660857
|
0.00006
|
NM_139343.3(BIN1):c.1359G>A (p.Pro453=)
|
rs201397427
|
0.00006
|
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met)
|
rs780918654
|
0.00006
|
NM_139343.3(BIN1):c.1462-3C>T
|
rs200384643
|
0.00006
|
NM_139343.3(BIN1):c.1479C>T (p.Val493=)
|
rs773313892
|
0.00006
|
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser)
|
rs766319258
|
0.00006
|
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala)
|
rs749951287
|
0.00005
|
NM_001378030.1(CCDC78):c.711G>C (p.Lys237Asn)
|
rs143439721
|
0.00005
|
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)
|
rs752077571
|
0.00005
|
NM_139343.3(BIN1):c.1131+9C>T
|
rs138606879
|
0.00005
|
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val)
|
rs140410496
|
0.00005
|
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser)
|
rs745758782
|
0.00005
|
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys)
|
rs147655157
|
0.00005
|
NM_139343.3(BIN1):c.52G>A (p.Val18Met)
|
rs566597765
|
0.00005
|
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
|
rs782410861
|
0.00004
|
NM_001005361.3(DNM2):c.-116C>T
|
rs966672075
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser)
|
rs754906673
|
0.00004
|
NM_001378030.1(CCDC78):c.1177C>T (p.Arg393Trp)
|
rs767496331
|
0.00004
|
NM_001378030.1(CCDC78):c.1233G>A (p.Leu411=)
|
rs893572894
|
0.00004
|
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=)
|
rs142180051
|
0.00004
|
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln)
|
rs201924732
|
0.00004
|
NM_001378030.1(CCDC78):c.557G>A (p.Arg186His)
|
rs762337009
|
0.00004
|
NM_001378030.1(CCDC78):c.751G>A (p.Ala251Thr)
|
rs371030168
|
0.00004
|
NM_001378030.1(CCDC78):c.845G>A (p.Arg282Gln)
|
rs201634385
|
0.00004
|
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys)
|
rs764179609
|
0.00004
|
NM_002469.3(MYF6):c.220C>T (p.Pro74Ser)
|
rs996997577
|
0.00004
|
NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg)
|
rs199549168
|
0.00004
|
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala)
|
rs759849782
|
0.00004
|
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro)
|
rs200008141
|
0.00004
|
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp)
|
rs781096883
|
0.00004
|
NM_005876.5(SPEG):c.9078C>T (p.His3026=)
|
rs541299207
|
0.00004
|
NM_139343.3(BIN1):c.1371+1G>T
|
rs556129959
|
0.00004
|
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val)
|
rs751051376
|
0.00004
|
NM_139343.3(BIN1):c.1461C>T (p.Ser487=)
|
rs34647988
|
0.00004
|
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn)
|
rs772786604
|
0.00004
|
NM_139343.3(BIN1):c.1674+3G>T
|
rs1420732725
|
0.00004
|
NM_139343.3(BIN1):c.839C>T (p.Thr280Met)
|
rs201872255
|
0.00004
|
NM_139343.3(BIN1):c.866C>T (p.Ala289Val)
|
rs771112840
|
0.00004
|
NM_139343.3(BIN1):c.968C>T (p.Thr323Met)
|
rs763810794
|
0.00004
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660
|
0.00003
|
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141
|
0.00003
|
NM_001378030.1(CCDC78):c.1230G>A (p.Leu410=)
|
rs768794447
|
0.00003
|
NM_001378030.1(CCDC78):c.1248G>A (p.Met416Ile)
|
rs1045075829
|
0.00003
|
NM_001378030.1(CCDC78):c.165G>T (p.Lys55Asn)
|
rs371931071
|
0.00003
|
NM_001378030.1(CCDC78):c.341C>T (p.Pro114Leu)
|
rs749051279
|
0.00003
|
NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser)
|
rs756781117
|
0.00003
|
NM_001378030.1(CCDC78):c.367C>T (p.Arg123Trp)
|
rs144406163
|
0.00003
|
NM_001378030.1(CCDC78):c.502G>A (p.Glu168Lys)
|
rs777794522
|
0.00003
|
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter)
|
rs887921636
|
0.00003
|
NM_001378030.1(CCDC78):c.880C>T (p.Arg294Trp)
|
rs772096201
|
0.00003
|
NM_001378030.1(CCDC78):c.884C>A (p.Ala295Asp)
|
rs1418782154
|
0.00003
|
NM_001378030.1(CCDC78):c.890G>A (p.Arg297His)
|
rs768251031
|
0.00003
|
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn)
|
rs202151661
|
0.00003
|
NM_139343.3(BIN1):c.-62G>A
|
rs886054836
|
0.00003
|
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu)
|
rs794727107
|
0.00003
|
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu)
|
rs368616652
|
0.00003
|
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser)
|
rs200124094
|
0.00003
|
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly)
|
rs758494519
|
0.00003
|
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys)
|
rs1342661066
|
0.00003
|
NM_139343.3(BIN1):c.1473T>C (p.Pro491=)
|
rs779756862
|
0.00003
|
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu)
|
rs587783342
|
0.00003
|
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser)
|
rs769724273
|
0.00003
|
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr)
|
rs779607755
|
0.00003
|
NM_139343.3(BIN1):c.675G>A (p.Glu225=)
|
rs148179522
|
0.00003
|
NM_139343.3(BIN1):c.698+9C>T
|
rs763703697
|
0.00003
|
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg)
|
rs771506242
|
0.00003
|
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser)
|
rs199551366
|
0.00003
|
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg)
|
rs1347335331
|
0.00002
|
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)
|
rs782451760
|
0.00002
|
NM_000252.3(MTM1):c.206G>A (p.Arg69His)
|
rs782277980
|
0.00002
|
NM_000252.3(MTM1):c.233A>T (p.Asp78Val)
|
rs782215492
|
0.00002
|
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr)
|
rs199821243
|
0.00002
|
NM_000252.3(MTM1):c.528+7T>C
|
rs782460237
|
0.00002
|
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu)
|
rs753402698
|
0.00002
|
NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln)
|
rs757795544
|
0.00002
|
NM_001378030.1(CCDC78):c.1059C>T (p.Gly353=)
|
rs773310049
|
0.00002
|
NM_001378030.1(CCDC78):c.1133+16G>T
|
rs778741526
|
0.00002
|
NM_001378030.1(CCDC78):c.1196C>T (p.Thr399Ile)
|
rs775067488
|
0.00002
|
NM_001378030.1(CCDC78):c.1278G>A (p.Glu426=)
|
rs773837439
|
0.00002
|
NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val)
|
rs1432121366
|
0.00002
|
NM_001378030.1(CCDC78):c.29G>A (p.Arg10Lys)
|
rs893873268
|
0.00002
|
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)
|
rs745392382
|
0.00002
|
NM_001378030.1(CCDC78):c.535C>T (p.Arg179Trp)
|
rs758399024
|
0.00002
|
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp)
|
rs754019798
|
0.00002
|
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln)
|
rs763959604
|
0.00002
|
NM_001378030.1(CCDC78):c.61-1G>A
|
rs1006891646
|
0.00002
|
NM_001378030.1(CCDC78):c.613G>A (p.Gly205Arg)
|
rs759028646
|
0.00002
|
NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile)
|
rs757617074
|
0.00002
|
NM_001378030.1(CCDC78):c.721G>A (p.Asp241Asn)
|
rs370899425
|
0.00002
|
NM_001378030.1(CCDC78):c.842T>A (p.Ile281Asn)
|
rs1037631909
|
0.00002
|
NM_001378030.1(CCDC78):c.857G>A (p.Arg286His)
|
rs750889592
|
0.00002
|
NM_001378030.1(CCDC78):c.874del (p.Leu292fs)
|
rs746756519
|
0.00002
|
NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter)
|
rs2040614414
|
0.00002
|
NM_002469.3(MYF6):c.281G>A (p.Arg94Gln)
|
rs201273759
|
0.00002
|
NM_002469.3(MYF6):c.331G>C (p.Glu111Gln)
|
rs773695133
|
0.00002
|
NM_002469.3(MYF6):c.623T>C (p.Ile208Thr)
|
rs766941896
|
0.00002
|
NM_139343.3(BIN1):c.*301C>T
|
rs886054830
|
0.00002
|
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu)
|
rs760559539
|
0.00002
|
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val)
|
rs746346952
|
0.00002
|
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr)
|
rs756816560
|
0.00002
|
NM_139343.3(BIN1):c.1541G>A (p.Arg514His)
|
rs766615886
|
0.00002
|
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys)
|
rs773732601
|
0.00002
|
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val)
|
rs771368114
|
0.00002
|
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys)
|
rs1042277527
|
0.00002
|
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr)
|
rs774273606
|
0.00002
|
NM_139343.3(BIN1):c.393C>T (p.Gly131=)
|
rs1455926606
|
0.00002
|
NM_139343.3(BIN1):c.661G>A (p.Val221Met)
|
rs573529529
|
0.00002
|
NM_139343.3(BIN1):c.775-3C>T
|
rs373768625
|
0.00002
|
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)
|
rs782664128
|
0.00001
|
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln)
|
rs782032230
|
0.00001
|
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile)
|
rs782705509
|
0.00001
|
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln)
|
rs782469735
|
0.00001
|
NM_000252.3(MTM1):c.646G>A (p.Val216Ile)
|
rs782156492
|
0.00001
|
NM_000252.3(MTM1):c.65C>T (p.Thr22Met)
|
rs781886721
|
0.00001
|
NM_000252.3(MTM1):c.867+4A>T
|
rs1322584849
|
0.00001
|
NM_000252.3(MTM1):c.911C>T (p.Ala304Val)
|
rs781871854
|
0.00001
|
NM_000252.3(MTM1):c.931A>G (p.Ile311Val)
|
rs782444216
|
0.00001
|
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln)
|
rs782462553
|
0.00001
|
NM_001005361.3(DNM2):c.*106T>C
|
rs886054144
|
0.00001
|
NM_001005361.3(DNM2):c.*214C>T
|
rs1271831719
|
0.00001
|
NM_001005361.3(DNM2):c.-153G>T
|
rs886054138
|
0.00001
|
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900
|
0.00001
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
rs759366882
|
0.00001
|
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881
|
0.00001
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
rs746025991
|
0.00001
|
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser)
|
rs1237677745
|
0.00001
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
rs779081943
|
0.00001
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
rs1217925152
|
0.00001
|
NM_001077525.3(MTMR14):c.1390G>A (p.Ala464Thr)
|
rs756932434
|
0.00001
|
NM_001378030.1(CCDC78):c.1039C>T (p.His347Tyr)
|
rs369908634
|
0.00001
|
NM_001378030.1(CCDC78):c.1052A>G (p.Gln351Arg)
|
rs371921917
|
0.00001
|
NM_001378030.1(CCDC78):c.1054-9C>G
|
rs781457535
|
0.00001
|
NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg)
|
rs199867890
|
0.00001
|
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs)
|
rs765483630
|
0.00001
|
NM_001378030.1(CCDC78):c.1124C>G (p.Ser375Ter)
|
rs1475409165
|
0.00001
|
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp)
|
rs1296158476
|
0.00001
|
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln)
|
rs376513788
|
0.00001
|
NM_001378030.1(CCDC78):c.1247T>C (p.Met416Thr)
|
rs1180613590
|
0.00001
|
NM_001378030.1(CCDC78):c.1299C>A (p.Gly433=)
|
rs1482540009
|
0.00001
|
NM_001378030.1(CCDC78):c.1302-1G>C
|
rs764699064
|
0.00001
|
NM_001378030.1(CCDC78):c.151C>G (p.Leu51Val)
|
rs1064794620
|
0.00001
|
NM_001378030.1(CCDC78):c.169C>A (p.Gln57Lys)
|
rs1180264424
|
0.00001
|
NM_001378030.1(CCDC78):c.1A>G (p.Met1Val)
|
rs768740042
|
0.00001
|
NM_001378030.1(CCDC78):c.211A>G (p.Thr71Ala)
|
rs750616701
|
0.00001
|
NM_001378030.1(CCDC78):c.217C>T (p.His73Tyr)
|
rs1477528084
|
0.00001
|
NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys)
|
rs549450998
|
0.00001
|
NM_001378030.1(CCDC78):c.247A>G (p.Ile83Val)
|
rs558878970
|
0.00001
|
NM_001378030.1(CCDC78):c.256C>G (p.Leu86Val)
|
rs748438652
|
0.00001
|
NM_001378030.1(CCDC78):c.267+3G>A
|
rs749827376
|
0.00001
|
NM_001378030.1(CCDC78):c.286C>T (p.Arg96Trp)
|
rs767068294
|
0.00001
|
NM_001378030.1(CCDC78):c.307C>T (p.Arg103Ter)
|
rs776512977
|
0.00001
|
NM_001378030.1(CCDC78):c.327G>C (p.Gln109His)
|
rs1246634377
|
0.00001
|
NM_001378030.1(CCDC78):c.328G>T (p.Gly110Cys)
|
rs777956994
|
0.00001
|
NM_001378030.1(CCDC78):c.344T>C (p.Val115Ala)
|
rs779855089
|
0.00001
|
NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter)
|
rs1014643433
|
0.00001
|
NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser)
|
rs2040942356
|
0.00001
|
NM_001378030.1(CCDC78):c.433C>T (p.Gln145Ter)
|
rs745710346
|
0.00001
|
NM_001378030.1(CCDC78):c.435+13A>G
|
rs966308561
|
0.00001
|
NM_001378030.1(CCDC78):c.435+7A>G
|
rs751070375
|
0.00001
|
NM_001378030.1(CCDC78):c.436-2A>G
|
rs778608633
|
0.00001
|
NM_001378030.1(CCDC78):c.492+6T>C
|
rs1283039950
|
0.00001
|
NM_001378030.1(CCDC78):c.509A>T (p.Lys170Met)
|
rs1555486210
|
0.00001
|
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln)
|
rs560987339
|
0.00001
|
NM_001378030.1(CCDC78):c.628A>T (p.Thr210Ser)
|
rs375138705
|
0.00001
|
NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser)
|
rs1374522692
|
0.00001
|
NM_001378030.1(CCDC78):c.707T>C (p.Leu236Pro)
|
rs1352546137
|
0.00001
|
NM_001378030.1(CCDC78):c.736C>G (p.Arg246Gly)
|
rs749095737
|
0.00001
|
NM_001378030.1(CCDC78):c.760G>A (p.Ala254Thr)
|
rs1338935088
|
0.00001
|
NM_001378030.1(CCDC78):c.763G>A (p.Val255Met)
|
rs763349441
|
0.00001
|
NM_001378030.1(CCDC78):c.763_765+5del
|
rs1406110108
|
0.00001
|
NM_001378030.1(CCDC78):c.767A>G (p.Glu256Gly)
|
rs1374510953
|
0.00001
|
NM_001378030.1(CCDC78):c.772G>A (p.Ala258Thr)
|
rs778696812
|
0.00001
|
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp)
|
rs747752625
|
0.00001
|
NM_001378030.1(CCDC78):c.851C>T (p.Ala284Val)
|
rs749614530
|
0.00001
|
NM_001378030.1(CCDC78):c.886G>A (p.Ala296Thr)
|
rs1395442564
|
0.00001
|
NM_001378030.1(CCDC78):c.910G>C (p.Val304Leu)
|
rs1014754418
|
0.00001
|
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His)
|
rs151049173
|
0.00001
|
NM_001378030.1(CCDC78):c.930T>G (p.His310Gln)
|
rs750273057
|
0.00001
|
NM_001378030.1(CCDC78):c.934G>A (p.Glu312Lys)
|
rs767319981
|
0.00001
|
NM_002469.3(MYF6):c.17T>G (p.Phe6Cys)
|
rs1346404270
|
0.00001
|
NM_002469.3(MYF6):c.193C>T (p.Pro65Ser)
|
rs1187510400
|
0.00001
|
NM_002469.3(MYF6):c.46G>A (p.Asp16Asn)
|
rs749523828
|
0.00001
|
NM_002469.3(MYF6):c.520-3C>T
|
rs1035326012
|
0.00001
|
NM_002469.3(MYF6):c.649C>T (p.Arg217Ter)
|
rs779208935
|
0.00001
|
NM_002469.3(MYF6):c.91T>C (p.Ser31Pro)
|
rs1443837642
|
0.00001
|
NM_005876.5(SPEG):c.1149C>T (p.Arg383=)
|
rs1295142218
|
0.00001
|
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp)
|
rs1381276826
|
0.00001
|
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp)
|
rs956843160
|
0.00001
|
NM_005876.5(SPEG):c.3134C>T (p.Thr1045Met)
|
rs62191886
|
0.00001
|
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp)
|
rs1202116887
|
0.00001
|
NM_005876.5(SPEG):c.4129G>A (p.Val1377Met)
|
rs1352203937
|
0.00001
|
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu)
|
rs1343314943
|
0.00001
|
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys)
|
rs757903145
|
0.00001
|
NM_139343.2(BIN1):c.-272G>A
|
rs886054842
|
0.00001
|
NM_139343.3(BIN1):c.*243T>G
|
rs886054831
|
0.00001
|
NM_139343.3(BIN1):c.*413G>A
|
rs886054829
|
0.00001
|
NM_139343.3(BIN1):c.*449G>A
|
rs369704619
|
0.00001
|
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser)
|
rs1405949552
|
0.00001
|
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu)
|
rs775494528
|
0.00001
|
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val)
|
rs1355424178
|
0.00001
|
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe)
|
rs965561469
|
0.00001
|
NM_139343.3(BIN1):c.1092C>T (p.Asp364=)
|
rs745647728
|
0.00001
|
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met)
|
rs577812854
|
0.00001
|
NM_139343.3(BIN1):c.1114G>A (p.Val372Met)
|
rs749198133
|
0.00001
|
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys)
|
rs1268978517
|
0.00001
|
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr)
|
rs769252326
|
0.00001
|
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala)
|
rs777951748
|
0.00001
|
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly)
|
rs1468092156
|
0.00001
|
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile)
|
rs886054834
|
0.00001
|
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile)
|
rs769199881
|
0.00001
|
NM_139343.3(BIN1):c.1461+1G>A
|
rs764951306
|
0.00001
|
NM_139343.3(BIN1):c.1461+6A>T
|
rs972060066
|
0.00001
|
NM_139343.3(BIN1):c.1516G>A (p.Val506Met)
|
rs371571307
|
0.00001
|
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg)
|
rs777452575
|
0.00001
|
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu)
|
rs755351031
|
0.00001
|
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe)
|
rs763458588
|
0.00001
|
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg)
|
rs765354438
|
0.00001
|
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser)
|
rs369549551
|
0.00001
|
NM_139343.3(BIN1):c.165+6T>C
|
rs763931802
|
0.00001
|
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val)
|
rs774321875
|
0.00001
|
NM_139343.3(BIN1):c.1675-7C>T
|
rs372449622
|
0.00001
|
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr)
|
rs1682474004
|
0.00001
|
NM_139343.3(BIN1):c.1696G>A (p.Val566Met)
|
rs761759946
|
0.00001
|
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile)
|
rs759691190
|
0.00001
|
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser)
|
rs1466748456
|
0.00001
|
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn)
|
rs532260569
|
0.00001
|
NM_139343.3(BIN1):c.330G>A (p.Leu110=)
|
rs746946704
|
0.00001
|
NM_139343.3(BIN1):c.416G>A (p.Arg139His)
|
rs755355125
|
0.00001
|
NM_139343.3(BIN1):c.434G>A (p.Arg145His)
|
rs1219115067
|
0.00001
|
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys)
|
rs764377144
|
0.00001
|
NM_139343.3(BIN1):c.519+4A>G
|
rs1429919147
|
0.00001
|
NM_139343.3(BIN1):c.520-3C>A
|
rs1455432609
|
0.00001
|
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu)
|
rs776075897
|
0.00001
|
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu)
|
rs777940512
|
0.00001
|
NM_139343.3(BIN1):c.57G>C (p.Gln19His)
|
rs142657993
|
0.00001
|
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter)
|
rs762897872
|
0.00001
|
NM_139343.3(BIN1):c.698+15G>A
|
rs535176915
|
0.00001
|
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly)
|
rs777898974
|
0.00001
|
NM_139343.3(BIN1):c.767T>C (p.Met256Thr)
|
rs975404965
|
0.00001
|
NM_139343.3(BIN1):c.784A>C (p.Asn262His)
|
rs1331854784
|
0.00001
|
NM_139343.3(BIN1):c.84+1G>A
|
rs1364583460
|
0.00001
|
NM_139343.3(BIN1):c.85-5G>A
|
rs371593265
|
0.00001
|
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn)
|
rs1490772170
|
0.00001
|
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr)
|
rs1160778854
|
0.00001
|
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu)
|
rs754707833
|
0.00001
|
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser)
|
rs748381039
|
0.00001
|
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser)
|
rs781377841
|
0.00001
|
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser)
|
rs753614814
|
0.00001
|
NC_000002.11:g.(?_127804599)_(127865903_?)del
|
|
|
NC_000002.11:g.(?_127806092)_(127834292_?)dup
|
|
|
NC_000002.11:g.(?_127806102)_(127864519_?)dup
|
|
|
NC_000002.11:g.(?_127806102)_(128432598_?)del
|
|
|
NC_000002.11:g.(?_127815029)_(127864539_?)dup
|
|
|
NC_000002.11:g.(?_127821127)_(127834302_?)dup
|
|
|
NC_000002.11:g.(?_127825719)_(127828412_?)dup
|
|
|
NC_000002.11:g.(?_127834182)_(127864519_?)dup
|
|
|
NC_000002.11:g.(?_127864416)_(127864519_?)dup
|
|
|
NC_000002.12:g.(?_127106850)_(127106953_?)dup
|
|
|
NC_000012.11:g.(?_80128594)_(81102759_?)del
|
|
|
NC_000016.10:g.(?_722760)_(726377_?)dup
|
|
|
NC_000016.9:g.(?_772770)_(776367_?)dup
|
|
|
NC_000023.10:g.(?_149613783)_(149840068_?)dup
|
|
|
NC_000023.10:g.(?_149761067)_(150573540_?)dup
|
|
|
NC_000023.10:g.(?_149761077)_(149787632_?)dup
|
|
|
NC_000023.10:g.(?_149783052)_(149840078_?)dup
|
|
|
NC_000023.10:g.(?_149807406)_(149814354_?)dup
|
|
|
NC_000023.10:g.(?_149839891)_(149840078_?)del
|
|
|
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys)
|
rs727504019
|
|
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
|
|
|
NM_000252.3(MTM1):c.1053+5G>A
|
rs1557414132
|
|
NM_000252.3(MTM1):c.1053+5G>T
|
rs1557414132
|
|
NM_000252.3(MTM1):c.1084G>C (p.Asp362His)
|
rs2148508579
|
|
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg)
|
rs2148508637
|
|
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)
|
rs2040151430
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
NM_000252.3(MTM1):c.1225A>G (p.Lys409Glu)
|
rs1569565526
|
|
NM_000252.3(MTM1):c.1260+5G>A
|
rs587783769
|
|
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
|
|
|
NM_000252.3(MTM1):c.1353+4A>C
|
|
|
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
|
|
NM_000252.3(MTM1):c.136+172T>C
|
|
|
NM_000252.3(MTM1):c.136+5G>A
|
|
|
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)
|
rs587783783
|
|
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys)
|
rs398123269
|
|
NM_000252.3(MTM1):c.137-7T>G
|
rs587783784
|
|
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
|
|
|
NM_000252.3(MTM1):c.1406A>C (p.His469Pro)
|
rs587783789
|
|
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)
|
rs587783789
|
|
NM_000252.3(MTM1):c.141A>G (p.Lys47=)
|
rs587783790
|
|
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
|
|
|
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala)
|
rs2040200948
|
|
NM_000252.3(MTM1):c.145G>A (p.Val49Ile)
|
rs587783796
|
|
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)
|
rs781948606
|
|
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
|
|
|
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu)
|
rs2040257723
|
|
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg)
|
rs2148515610
|
|
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys)
|
rs1569565536
|
|
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu)
|
rs868972342
|
|
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
|
|
|
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
|
|
|
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu)
|
rs2148515723
|
|
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
|
|
|
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
|
|
|
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
|
|
|
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys)
|
rs1603214706
|
|
NM_000252.3(MTM1):c.1667G>A (p.Arg556His)
|
rs372735301
|
|
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
|
|
|
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro)
|
rs1347335331
|
|
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
|
|
|
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
|
|
|
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala)
|
rs1195705222
|
|
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
|
|
|
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
|
|
|
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
|
|
|
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
|
|
|
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
|
|
|
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)
|
rs587783818
|
|
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
|
|
|
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
|
|
|
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
|
|
|
NM_000252.3(MTM1):c.397A>G (p.Met133Val)
|
rs2039434563
|
|
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro)
|
rs2148461766
|
|
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro)
|
rs1557413215
|
|
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)
|
rs964287315
|
|
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
|
|
|
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
|
|
|
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys)
|
rs587783829
|
|
NM_000252.3(MTM1):c.530G>T (p.Gly177Val)
|
rs1603187659
|
|
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr)
|
rs587783832
|
|
NM_000252.3(MTM1):c.543C>G (p.His181Gln)
|
rs1603187692
|
|
NM_000252.3(MTM1):c.544C>T (p.His182Tyr)
|
rs2148488398
|
|
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu)
|
rs2148488427
|
|
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
|
|
|
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
|
|
|
NM_000252.3(MTM1):c.5C>T (p.Ala2Val)
|
rs1603118990
|
|
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)
|
rs587783842
|
|
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
|
|
|
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys)
|
rs2148425592
|
|
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
|
|
|
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
|
|
|
NM_000252.3(MTM1):c.678+5G>A
|
|
|
NM_000252.3(MTM1):c.678+6T>A
|
rs2039847628
|
|
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
|
|
|
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
|
|
|
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly)
|
rs2148493156
|
|
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu)
|
rs1557413958
|
|
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
|
|
|
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del)
|
rs1603124011
|
|
NM_000252.3(MTM1):c.770A>G (p.Asp257Gly)
|
|
|
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
|
|
|
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg)
|
rs2148493317
|
|
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
|
|
|
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr)
|
rs2148497733
|
|
NM_000252.3(MTM1):c.905A>G (p.His302Arg)
|
rs2148497756
|
|
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln)
|
rs587783861
|
|
NM_000252.3(MTM1):c.944A>G (p.His315Arg)
|
rs2148497817
|
|
NM_000252.3(MTM1):c.946G>A (p.Val316Ile)
|
rs2148497828
|
|
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp)
|
rs2039989751
|
|
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
|
|
|
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu)
|
rs2148497898
|
|
NM_001005361.3(DNM2):c.*166G>A
|
rs886054145
|
|
NM_001005361.3(DNM2):c.*379C>T
|
rs953057550
|
|
NM_001005361.3(DNM2):c.*550G>A
|
rs886054148
|
|
NM_001005361.3(DNM2):c.*711T>C
|
rs886054149
|
|
NM_001005361.3(DNM2):c.*716C>T
|
rs2073353055
|
|
NM_001005361.3(DNM2):c.*751T>A
|
rs2073354083
|
|
NM_001005361.3(DNM2):c.-122G>A
|
rs886054139
|
|
NM_001005361.3(DNM2):c.-19G>T
|
rs753599004
|
|
NM_001005361.3(DNM2):c.1090C>T (p.Arg364Cys)
|
rs1568304333
|
|
NM_001005361.3(DNM2):c.1196+647G>T
|
rs2146025928
|
|
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140
|
|
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys)
|
rs951875086
|
|
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln)
|
rs1568283807
|
|
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
|
rs1360529572
|
|
NM_001005361.3(DNM2):c.2292-8C>A
|
rs757620658
|
|
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
|
rs2073288383
|
|
NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del)
|
rs2073289554
|
|
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
|
rs2073292307
|
|
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
|
rs1382688319
|
|
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354
|
|
NM_001005361.3(DNM2):c.37G>C (p.Val13Leu)
|
|
|
NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser)
|
rs2068817566
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
|
rs2071432774
|
|
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr)
|
rs2145978260
|
|
NM_001077525.3(MTMR14):c.1174T>C (p.Phe392Leu)
|
rs2076010767
|
|
NM_001077525.3(MTMR14):c.1888G>A (p.Gly630Arg)
|
|
|
NM_001378030.1(CCDC78):c.1003G>C (p.Glu335Gln)
|
|
|
NM_001378030.1(CCDC78):c.1012C>A (p.Pro338Thr)
|
rs951170993
|
|
NM_001378030.1(CCDC78):c.1015G>A (p.Val339Met)
|
|
|
NM_001378030.1(CCDC78):c.1015G>T (p.Val339Leu)
|
rs759037918
|
|
NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu)
|
rs2040894714
|
|
NM_001378030.1(CCDC78):c.1033T>C (p.Phe345Leu)
|
rs2040580658
|
|
NM_001378030.1(CCDC78):c.1037G>A (p.Ser346Asn)
|
|
|
NM_001378030.1(CCDC78):c.1042C>T (p.Arg348Trp)
|
|
|
NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu)
|
rs142170929
|
|
NM_001378030.1(CCDC78):c.1053+1G>A
|
|
|
NM_001378030.1(CCDC78):c.1053G>A (p.Gln351=)
|
|
|
NM_001378030.1(CCDC78):c.1066G>A (p.Gly356Arg)
|
|
|
NM_001378030.1(CCDC78):c.1067G>A (p.Gly356Glu)
|
rs1567315670
|
|
NM_001378030.1(CCDC78):c.1070C>A (p.Ala357Glu)
|
|
|
NM_001378030.1(CCDC78):c.1070C>T (p.Ala357Val)
|
rs767325446
|
|
NM_001378030.1(CCDC78):c.1075C>G (p.Leu359Val)
|
|
|
NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser)
|
rs2040893951
|
|
NM_001378030.1(CCDC78):c.1081T>C (p.Ser361Pro)
|
|
|
NM_001378030.1(CCDC78):c.1099G>A (p.Gly367Ser)
|
rs1021626011
|
|
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg)
|
rs780209156
|
|
NM_001378030.1(CCDC78):c.1114G>C (p.Gly372Arg)
|
rs780209156
|
|
NM_001378030.1(CCDC78):c.1133+3G>C
|
|
|
NM_001378030.1(CCDC78):c.1133+5G>C
|
rs751889492
|
|
NM_001378030.1(CCDC78):c.1134-19C>T
|
rs1320283995
|
|
NM_001378030.1(CCDC78):c.1144G>A (p.Ala382Thr)
|
|
|
NM_001378030.1(CCDC78):c.1174C>T (p.Leu392Phe)
|
|
|
NM_001378030.1(CCDC78):c.1178G>C (p.Arg393Pro)
|
rs376513788
|
|
NM_001378030.1(CCDC78):c.1180G>A (p.Asp394Asn)
|
|
|
NM_001378030.1(CCDC78):c.1181A>G (p.Asp394Gly)
|
|
|
NM_001378030.1(CCDC78):c.1187C>G (p.Ser396Cys)
|
|
|
NM_001378030.1(CCDC78):c.1190G>C (p.Arg397Pro)
|
|
|
NM_001378030.1(CCDC78):c.1200+14_1200+18del
|
|
|
NM_001378030.1(CCDC78):c.1235T>G (p.Val412Gly)
|
|
|
NM_001378030.1(CCDC78):c.1277A>C (p.Glu426Ala)
|
rs761180576
|
|
NM_001378030.1(CCDC78):c.1287C>T (p.Asp429=)
|
rs1403494570
|
|
NM_001378030.1(CCDC78):c.1292A>G (p.His431Arg)
|
|
|
NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp)
|
|
|
NM_001378030.1(CCDC78):c.1307A>G (p.Lys436Arg)
|
|
|
NM_001378030.1(CCDC78):c.1308G>A (p.Lys436=)
|
|
|
NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln)
|
|
|
NM_001378030.1(CCDC78):c.1311C>T (p.His437=)
|
rs775569629
|
|
NM_001378030.1(CCDC78):c.139G>A (p.Val47Ile)
|
rs892740041
|
|
NM_001378030.1(CCDC78):c.13G>C (p.Ala5Pro)
|
|
|
NM_001378030.1(CCDC78):c.14C>T (p.Ala5Val)
|
rs2151579428
|
|
NM_001378030.1(CCDC78):c.15dup (p.Thr6fs)
|
rs1389255956
|
|
NM_001378030.1(CCDC78):c.178C>G (p.Gln60Glu)
|
|
|
NM_001378030.1(CCDC78):c.180+3G>T
|
rs1483977509
|
|
NM_001378030.1(CCDC78):c.191_194dup (p.Val66fs)
|
rs2040863479
|
|
NM_001378030.1(CCDC78):c.197T>G (p.Val66Gly)
|
|
|
NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn)
|
rs374105211
|
|
NM_001378030.1(CCDC78):c.20C>T (p.Thr7Ile)
|
|
|
NM_001378030.1(CCDC78):c.220C>T (p.His74Tyr)
|
rs1248260858
|
|
NM_001378030.1(CCDC78):c.224T>C (p.Leu75Pro)
|
|
|
NM_001378030.1(CCDC78):c.229G>A (p.Glu77Lys)
|
|
|
NM_001378030.1(CCDC78):c.252C>G (p.Phe84Leu)
|
rs766553371
|
|
NM_001378030.1(CCDC78):c.253C>T (p.Gln85Ter)
|
|
|
NM_001378030.1(CCDC78):c.259A>G (p.Lys87Glu)
|
|
|
NM_001378030.1(CCDC78):c.265G>A (p.Glu89Lys)
|
|
|
NM_001378030.1(CCDC78):c.267+1G>A
|
|
|
NM_001378030.1(CCDC78):c.267+1G>C
|
|
|
NM_001378030.1(CCDC78):c.267G>A (p.Glu89=)
|
rs1246932109
|
|
NM_001378030.1(CCDC78):c.268-2_272del
|
|
|
NM_001378030.1(CCDC78):c.26C>T (p.Pro9Leu)
|
rs1432188387
|
|
NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln)
|
rs766279961
|
|
NM_001378030.1(CCDC78):c.285C>G (p.Ser95Arg)
|
|
|
NM_001378030.1(CCDC78):c.287G>A (p.Arg96Gln)
|
|
|
NM_001378030.1(CCDC78):c.295GAGCTG[3] (p.Leu102_Arg103insGluLeu)
|
|
|
NM_001378030.1(CCDC78):c.310G>T (p.Gly104Ter)
|
|
|
NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter)
|
rs1042253618
|
|
NM_001378030.1(CCDC78):c.328G>A (p.Gly110Ser)
|
|
|
NM_001378030.1(CCDC78):c.329G>A (p.Gly110Asp)
|
|
|
NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val)
|
rs369153172
|
|
NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg)
|
rs749051279
|
|
NM_001378030.1(CCDC78):c.356C>A (p.Pro119His)
|
rs750379614
|
|
NM_001378030.1(CCDC78):c.356C>G (p.Pro119Arg)
|
rs750379614
|
|
NM_001378030.1(CCDC78):c.371C>A (p.Ala124Glu)
|
|
|
NM_001378030.1(CCDC78):c.377C>T (p.Ala126Val)
|
|
|
NM_001378030.1(CCDC78):c.385C>A (p.Leu129Ile)
|
|
|
NM_001378030.1(CCDC78):c.400del (p.Gln134fs)
|
rs758119082
|
|
NM_001378030.1(CCDC78):c.402G>A (p.Gln134=)
|
|
|
NM_001378030.1(CCDC78):c.406C>T (p.Pro136Ser)
|
|
|
NM_001378030.1(CCDC78):c.416C>T (p.Ser139Phe)
|
rs374382609
|
|
NM_001378030.1(CCDC78):c.426_427del (p.His142fs)
|
|
|
NM_001378030.1(CCDC78):c.436-7C>G
|
rs1567323012
|
|
NM_001378030.1(CCDC78):c.439C>T (p.Gln147Ter)
|
|
|
NM_001378030.1(CCDC78):c.463G>A (p.Glu155Lys)
|
rs369344548
|
|
NM_001378030.1(CCDC78):c.467A>G (p.Asn156Ser)
|
rs2151564305
|
|
NM_001378030.1(CCDC78):c.46C>G (p.Arg16Gly)
|
rs746792512
|
|
NM_001378030.1(CCDC78):c.46C>T (p.Arg16Trp)
|
rs746792512
|
|
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)
|
|
|
NM_001378030.1(CCDC78):c.47G>C (p.Arg16Pro)
|
rs117949611
|
|
NM_001378030.1(CCDC78):c.488del (p.Ser163fs)
|
|
|
NM_001378030.1(CCDC78):c.493C>T (p.Leu165=)
|
rs1361254201
|
|
NM_001378030.1(CCDC78):c.499G>A (p.Gly167Arg)
|
rs2040740740
|
|
NM_001378030.1(CCDC78):c.49C>G (p.Arg17Gly)
|
|
|
NM_001378030.1(CCDC78):c.502G>C (p.Glu168Gln)
|
rs777794522
|
|
NM_001378030.1(CCDC78):c.508_512del (p.Lys170fs)
|
rs1466789176
|
|
NM_001378030.1(CCDC78):c.509A>G (p.Lys170Arg)
|
rs1555486210
|
|
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln)
|
rs1046402338
|
|
NM_001378030.1(CCDC78):c.50G>C (p.Arg17Pro)
|
|
|
NM_001378030.1(CCDC78):c.50G>T (p.Arg17Leu)
|
rs1046402338
|
|
NM_001378030.1(CCDC78):c.515C>T (p.Ala172Val)
|
|
|
NM_001378030.1(CCDC78):c.517C>G (p.Leu173Val)
|
|
|
NM_001378030.1(CCDC78):c.545C>T (p.Ala182Val)
|
rs1000549010
|
|
NM_001378030.1(CCDC78):c.548T>C (p.Leu183Pro)
|
|
|
NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg)
|
rs2151561882
|
|
NM_001378030.1(CCDC78):c.553_554delinsTA (p.Thr185Ter)
|
|
|
NM_001378030.1(CCDC78):c.560_560+3del
|
|
|
NM_001378030.1(CCDC78):c.571_582del (p.Gly191_Leu194del)
|
rs1035417733
|
|
NM_001378030.1(CCDC78):c.598G>A (p.Glu200Lys)
|
rs1031306587
|
|
NM_001378030.1(CCDC78):c.60+2T>C
|
rs1289274795
|
|
NM_001378030.1(CCDC78):c.60+3G>A
|
|
|
NM_001378030.1(CCDC78):c.61-13G>A
|
|
|
NM_001378030.1(CCDC78):c.61-16G>A
|
|
|
NM_001378030.1(CCDC78):c.61-2A>G
|
|
|
NM_001378030.1(CCDC78):c.61-6C>A
|
|
|
NM_001378030.1(CCDC78):c.611C>A (p.Ala204Asp)
|
rs2040706093
|
|
NM_001378030.1(CCDC78):c.616C>T (p.Gln206Ter)
|
|
|
NM_001378030.1(CCDC78):c.620G>C (p.Arg207Pro)
|
|
|
NM_001378030.1(CCDC78):c.639+4A>G
|
|
|
NM_001378030.1(CCDC78):c.667C>T (p.Arg223Cys)
|
|
|
NM_001378030.1(CCDC78):c.668G>T (p.Arg223Leu)
|
|
|
NM_001378030.1(CCDC78):c.671A>G (p.Gln224Arg)
|
|
|
NM_001378030.1(CCDC78):c.679G>T (p.Ala227Ser)
|
|
|
NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr)
|
|
|
NM_001378030.1(CCDC78):c.691C>G (p.Arg231Gly)
|
rs527479144
|
|
NM_001378030.1(CCDC78):c.691C>T (p.Arg231Trp)
|
|
|
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu)
|
rs147504073
|
|
NM_001378030.1(CCDC78):c.703_708dup (p.233QL[3])
|
rs1392358219
|
|
NM_001378030.1(CCDC78):c.71G>A (p.Arg24Gln)
|
|
|
NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp)
|
rs749095737
|
|
NM_001378030.1(CCDC78):c.752C>A (p.Ala251Asp)
|
|
|
NM_001378030.1(CCDC78):c.758A>G (p.Gln253Arg)
|
rs1438721597
|
|
NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr)
|
rs1160240030
|
|
NM_001378030.1(CCDC78):c.771C>G (p.His257Gln)
|
rs747763912
|
|
NM_001378030.1(CCDC78):c.778G>A (p.Gly260Ser)
|
|
|
NM_001378030.1(CCDC78):c.782C>G (p.Ala261Gly)
|
rs1328091861
|
|
NM_001378030.1(CCDC78):c.791C>T (p.Ala264Val)
|
|
|
NM_001378030.1(CCDC78):c.805del (p.Ala269fs)
|
|
|
NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly)
|
rs2040895994
|
|
NM_001378030.1(CCDC78):c.838G>A (p.Asp280Asn)
|
|
|
NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly)
|
rs747752625
|
|
NM_001378030.1(CCDC78):c.860G>A (p.Ser287Asn)
|
|
|
NM_001378030.1(CCDC78):c.860G>C (p.Ser287Thr)
|
rs1688583528
|
|
NM_001378030.1(CCDC78):c.862C>A (p.Arg288Ser)
|
|
|
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr)
|
rs770130604
|
|
NM_001378030.1(CCDC78):c.897C>A (p.Tyr299Ter)
|
rs1203607617
|
|
NM_001378030.1(CCDC78):c.898_900del (p.His300del)
|
rs771582682
|
|
NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg)
|
rs2040618422
|
|
NM_001378030.1(CCDC78):c.913G>T (p.Asp305Tyr)
|
|
|
NM_001378030.1(CCDC78):c.922_923delinsGA (p.Arg308Asp)
|
|
|
NM_001378030.1(CCDC78):c.924C>T (p.Arg308=)
|
rs2040615574
|
|
NM_001378030.1(CCDC78):c.929A>G (p.His310Arg)
|
rs2040614811
|
|
NM_001378030.1(CCDC78):c.947C>T (p.Ala316Val)
|
rs2151553309
|
|
NM_001378030.1(CCDC78):c.94G>A (p.Ala32Thr)
|
|
|
NM_001378030.1(CCDC78):c.953+3G>A
|
rs2040612115
|
|
NM_001378030.1(CCDC78):c.953+4G>A
|
|
|
NM_001378030.1(CCDC78):c.954G>A (p.Arg318=)
|
rs2040592459
|
|
NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys)
|
rs2040592043
|
|
NM_001378030.1(CCDC78):c.958C>T (p.Pro320Ser)
|
|
|
NM_001378030.1(CCDC78):c.986T>C (p.Ile329Thr)
|
|
|
NM_001378030.1(CCDC78):c.991A>G (p.Ser331Gly)
|
|
|
NM_001378030.1(CCDC78):c.999C>G (p.Asp333Glu)
|
rs1450643801
|
|
NM_002469.3(MYF6):c.104C>T (p.Pro35Leu)
|
rs2121343603
|
|
NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)
|
|
|
NM_002469.3(MYF6):c.176A>T (p.Glu59Val)
|
rs1332444958
|
|
NM_002469.3(MYF6):c.183T>G (p.His61Gln)
|
rs776368255
|
|
NM_002469.3(MYF6):c.273dup (p.Thr92fs)
|
rs768710318
|
|
NM_002469.3(MYF6):c.280C>T (p.Arg94Trp)
|
rs1188507871
|
|
NM_002469.3(MYF6):c.352C>G (p.Arg118Gly)
|
rs34563783
|
|
NM_002469.3(MYF6):c.459G>C (p.Gln153His)
|
rs1868399214
|
|
NM_002469.3(MYF6):c.511C>G (p.Gln171Glu)
|
rs1013493242
|
|
NM_002469.3(MYF6):c.587G>A (p.Gly196Glu)
|
rs750182640
|
|
NM_002469.3(MYF6):c.691C>G (p.Arg231Gly)
|
rs1408693660
|
|
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
|
|
|
NM_005876.5(SPEG):c.1625C>A (p.Pro542His)
|
rs927960851
|
|
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
|
|
|
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
|
|
|
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
|
|
|
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp)
|
rs570323054
|
|
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala)
|
rs200713879
|
|
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
|
|
|
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
|
|
|
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
|
|
|
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp)
|
|
|
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)
|
|
|
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro)
|
|
|
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys)
|
rs587777672
|
|
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu)
|
rs2125558050
|
|
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)
|
rs201170917
|
|
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)
|
|
|
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del)
|
|
|
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu)
|
|
|
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr)
|
|
|
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu)
|
rs762057369
|
|
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)
|
|
|
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)
|
|
|
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del)
|
rs1575202038
|
|
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly)
|
|
|
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu)
|
rs1376293618
|
|
NM_005876.5(SPEG):c.9575C>A (p.Thr3192Asn)
|
rs534715710
|
|
NM_139343.2(BIN1):c.-366C>A
|
rs886054843
|
|
NM_139343.3(BIN1):c.*194C>T
|
rs565856632
|
|
NM_139343.3(BIN1):c.*214G>A
|
rs886054832
|
|
NM_139343.3(BIN1):c.*247G>T
|
rs1334404831
|
|
NM_139343.3(BIN1):c.*479del
|
rs367627116
|
|
NM_139343.3(BIN1):c.*55G>A
|
rs886054833
|
|
NM_139343.3(BIN1):c.*82C>T
|
rs111649895
|
|
NM_139343.3(BIN1):c.-105G>T
|
rs575072529
|
|
NM_139343.3(BIN1):c.-114del
|
rs886054837
|
|
NM_139343.3(BIN1):c.-146C>G
|
rs1462553382
|
|
NM_139343.3(BIN1):c.-177_-174dup
|
rs886054838
|
|
NM_139343.3(BIN1):c.-192G>A
|
rs886054839
|
|
NM_139343.3(BIN1):c.-197C>A
|
rs886054840
|
|
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)
|
|
|
NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)
|
|
|
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu)
|
rs886043420
|
|
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly)
|
rs1553456782
|
|
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)
|
|
|
NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)
|
|
|
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg)
|
rs2104935838
|
|
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)
|
|
|
NM_139343.3(BIN1):c.1132-22TGC[7]
|
rs748026377
|
|
NM_139343.3(BIN1):c.1132-2A>G
|
rs1295546366
|
|
NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)
|
|
|
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)
|
|
|
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr)
|
rs1573549506
|
|
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser)
|
rs1573549506
|
|
NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)
|
|
|
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)
|
|
|
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr)
|
rs1683302135
|
|
NM_139343.3(BIN1):c.11T>C (p.Met4Thr)
|
|
|
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)
|
|
|
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)
|
|
|
NM_139343.3(BIN1):c.1213G>A (p.Val405Met)
|
|
|
NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)
|
|
|
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter)
|
rs2104891817
|
|
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)
|
|
|
NM_139343.3(BIN1):c.1264-11_1270del
|
rs776737413
|
|
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)
|
|
|
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr)
|
rs1240564481
|
|
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)
|
|
|
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val)
|
rs758494519
|
|
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr)
|
rs1158338100
|
|
NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)
|
|
|
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys)
|
rs750715069
|
|
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
|
|
|
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)
|
|
|
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)
|
|
|
NM_139343.3(BIN1):c.1372-1G>A
|
rs1682909859
|
|
NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)
|
|
|
NM_139343.3(BIN1):c.1395G>C (p.Ala465=)
|
rs765870974
|
|
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)
|
|
|
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)
|
|
|
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)
|
|
|
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys)
|
rs865803817
|
|
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)
|
|
|
NM_139343.3(BIN1):c.1470del (p.Pro491fs)
|
|
|
NM_139343.3(BIN1):c.1472del (p.Pro491fs)
|
rs1682848303
|
|
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala)
|
rs1682847067
|
|
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu)
|
rs1191840422
|
|
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
|
|
|
NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)
|
|
|
NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)
|
|
|
NM_139343.3(BIN1):c.1515C>G (p.Thr505=)
|
rs375583449
|
|
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)
|
|
|
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
|
|
|
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg)
|
rs886043878
|
|
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val)
|
rs2104859449
|
|
NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)
|
|
|
NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)
|
|
|
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)
|
|
|
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile)
|
rs773732601
|
|
NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)
|
|
|
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)
|
|
|
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu)
|
rs1445898966
|
|
NM_139343.3(BIN1):c.165+1G>A
|
|
|
NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)
|
|
|
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys)
|
rs1682762039
|
|
NM_139343.3(BIN1):c.1675-2A>G
|
|
|
NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)
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NM_139343.3(BIN1):c.167C>T (p.Thr56Met)
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|
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NM_139343.3(BIN1):c.168G>A (p.Thr56=)
|
rs528828320
|
|
NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)
|
|
|
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu)
|
rs761759946
|
|
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn)
|
rs368983991
|
|
NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)
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|
|
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu)
|
rs2104840053
|
|
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val)
|
rs775119768
|
|
NM_139343.3(BIN1):c.173G>T (p.Gly58Val)
|
rs1282156307
|
|
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)
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|
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NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly)
|
rs2104839547
|
|
NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)
|
|
|
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)
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|
|
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln)
|
rs1558835946
|
|
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile)
|
rs2105078067
|
|
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)
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|
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NM_139343.3(BIN1):c.220+4G>A
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|
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NM_139343.3(BIN1):c.224T>C (p.Met75Thr)
|
rs1024658796
|
|
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys)
|
rs1685759135
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NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)
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|
|
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe)
|
rs1377099769
|
|
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)
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|
|
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter)
|
rs2105075896
|
|
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn)
|
rs774273606
|
|
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu)
|
rs770994335
|
|
NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)
|
|
|
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys)
|
rs1681237812
|
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NM_139343.3(BIN1):c.29C>T (p.Thr10Met)
|
|
|
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr)
|
rs754932468
|
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NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)
|
|
|
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys)
|
rs1685745258
|
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NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)
|
|
|
NM_139343.3(BIN1):c.315+3G>C
|
rs764821578
|
|
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln)
|
rs2105070437
|
|
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
|
|
|
NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)
|
|
|
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs)
|
rs761813363
|
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NM_139343.3(BIN1):c.385T>C (p.Tyr129His)
|
rs2105069995
|
|
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)
|
|
|
NM_139343.3(BIN1):c.411+1G>T
|
|
|
NM_139343.3(BIN1):c.411+5G>C
|
|
|
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu)
|
rs1407049344
|
|
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg)
|
rs1685516968
|
|
NM_139343.3(BIN1):c.430_432del (p.Gly144del)
|
rs1685516331
|
|
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp)
|
rs761914168
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
NM_139343.3(BIN1):c.469T>C (p.Tyr157His)
|
rs1553466026
|
|
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe)
|
rs1685511003
|
|
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del)
|
rs775374523
|
|
NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)
|
|
|
NM_139343.3(BIN1):c.519+6G>T
|
|
|
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys)
|
rs2105378914
|
|
NM_139343.3(BIN1):c.552G>C (p.Gln184His)
|
|
|
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu)
|
rs2105378861
|
|
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)
|
|
|
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile)
|
rs2105049284
|
|
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)
|
|
|
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)
|
|
|
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)
|
|
|
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu)
|
rs376323215
|
|
NM_139343.3(BIN1):c.679C>G (p.Leu227Val)
|
rs886054835
|
|
NM_139343.3(BIN1):c.701G>A (p.Arg234His)
|
|
|
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly)
|
rs2105378684
|
|
NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)
|
|
|
NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)
|
|
|
NM_139343.3(BIN1):c.737C>T (p.Ala246Val)
|
|
|
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp)
|
rs1684781364
|
|
NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)
|
|
|
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn)
|
rs761203710
|
|
NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)
|
|
|
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)
|
|
|
NM_139343.3(BIN1):c.821A>G (p.His274Arg)
|
|
|
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp)
|
rs771506242
|
|
NM_139343.3(BIN1):c.84+14A>T
|
rs2105378351
|
|
NM_139343.3(BIN1):c.84+4286_84+4287delinsAT
|
|
|
NM_139343.3(BIN1):c.84+6C>A
|
|
|
NM_139343.3(BIN1):c.84+9G>A
|
rs762680903
|
|
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)
|
|
|
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn)
|
rs1681229622
|
|
NM_139343.3(BIN1):c.857+4C>G
|
|
|
NM_139343.3(BIN1):c.857+5G>A
|
|
|
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser)
|
rs2104954121
|
|
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)
|
|
|
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr)
|
rs1462533329
|
|
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly)
|
rs1259572705
|
|
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)
|
|
|
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)
|
|
|
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile)
|
rs199551366
|
|
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)
|
|
|
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys)
|
rs769801396
|
|
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln)
|
rs769801396
|
|
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)
|
|
|
NM_139343.3(BIN1):c.957C>A (p.Ala319=)
|
rs2276579
|
|
NM_139343.3(BIN1):c.957C>G (p.Ala319=)
|
rs2276579
|
|
NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)
|
|
|
NM_139343.3(BIN1):c.965C>T (p.Ala322Val)
|
rs1684085224
|
|
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)
|
|
|
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)
|
|
|
NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)
|
|
|
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp)
|
rs558639756
|
|