NM_058246.4(DNAJB6):c.*699T>C
|
rs4716719
|
0.98753
|
NM_058246.4(DNAJB6):c.-26-7C>T
|
rs3802100
|
0.54438
|
NM_058246.4(DNAJB6):c.*759C>T
|
rs1059752
|
0.34812
|
NM_058246.4(DNAJB6):c.*726A>G
|
rs7787595
|
0.09177
|
NM_058246.4(DNAJB6):c.176-20A>G
|
rs28377945
|
0.05106
|
NM_058246.4(DNAJB6):c.*514G>A
|
rs17837760
|
0.01319
|
NM_058246.4(DNAJB6):c.*639A>G
|
rs76450641
|
0.00706
|
NM_058246.4(DNAJB6):c.*776C>T
|
rs115297289
|
0.00683
|
NM_058246.4(DNAJB6):c.-86G>A
|
rs562984002
|
0.00659
|
NM_058246.4(DNAJB6):c.*604C>G
|
rs78938721
|
0.00602
|
NM_058246.4(DNAJB6):c.899-6C>T
|
rs78337193
|
0.00601
|
NM_058246.4(DNAJB6):c.*72C>T
|
rs116630040
|
0.00519
|
NM_058246.4(DNAJB6):c.-63C>G
|
rs551880529
|
0.00502
|
NM_058246.4(DNAJB6):c.-85G>T
|
rs533497802
|
0.00486
|
NM_058246.4(DNAJB6):c.*88G>A
|
rs139193261
|
0.00398
|
NM_058246.4(DNAJB6):c.*382G>A
|
rs35743737
|
0.00228
|
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)
|
rs149278319
|
0.00191
|
NM_058246.4(DNAJB6):c.620+18A>G
|
rs201910694
|
0.00163
|
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro)
|
rs147168661
|
0.00159
|
NM_058246.4(DNAJB6):c.*923G>A
|
rs149171640
|
0.00112
|
NM_058246.4(DNAJB6):c.429G>C (p.Ala143=)
|
rs150709673
|
0.00085
|
NM_058246.4(DNAJB6):c.417G>A (p.Ser139=)
|
rs143051731
|
0.00068
|
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)
|
rs142974468
|
0.00068
|
NM_058246.4(DNAJB6):c.*787G>T
|
rs184330731
|
0.00066
|
NM_058246.4(DNAJB6):c.*610C>T
|
rs886062134
|
0.00063
|
NM_058246.4(DNAJB6):c.*934C>T
|
rs886062136
|
0.00063
|
NM_058246.4(DNAJB6):c.-43G>T
|
rs566594165
|
0.00060
|
NM_058246.4(DNAJB6):c.*902C>T
|
rs547235102
|
0.00056
|
NM_058246.4(DNAJB6):c.81A>G (p.Ala27=)
|
rs144525030
|
0.00045
|
NM_058246.4(DNAJB6):c.831T>G (p.Ser277=)
|
rs369098407
|
0.00039
|
NM_058246.4(DNAJB6):c.*306C>T
|
rs576133569
|
0.00038
|
NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)
|
rs150583876
|
0.00038
|
NM_058246.4(DNAJB6):c.692-13G>T
|
rs192981897
|
0.00038
|
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln)
|
rs368078459
|
0.00026
|
NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn)
|
rs556999563
|
0.00017
|
NM_058246.4(DNAJB6):c.*636T>G
|
rs756063127
|
0.00014
|
NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met)
|
rs149027078
|
0.00014
|
NM_058246.4(DNAJB6):c.702C>G (p.Asp234Glu)
|
rs568383912
|
0.00012
|
NM_058246.4(DNAJB6):c.621-18T>A
|
rs200755236
|
0.00011
|
NM_058246.4(DNAJB6):c.476C>T (p.Thr159Ile)
|
rs199651553
|
0.00010
|
NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)
|
rs373070679
|
0.00010
|
NM_058246.4(DNAJB6):c.862G>A (p.Ala288Thr)
|
rs371808471
|
0.00009
|
NM_058246.4(DNAJB6):c.*606A>G
|
rs570569711
|
0.00008
|
NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu)
|
rs373354100
|
0.00008
|
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)
|
rs375911119
|
0.00008
|
NM_058246.4(DNAJB6):c.837G>A (p.Glu279=)
|
rs773414936
|
0.00007
|
NM_058246.4(DNAJB6):c.346+13C>T
|
rs749252793
|
0.00006
|
NM_058246.4(DNAJB6):c.432C>T (p.Phe144=)
|
rs766637787
|
0.00006
|
NM_058246.4(DNAJB6):c.564C>T (p.Phe188=)
|
rs145897776
|
0.00006
|
NM_058246.4(DNAJB6):c.633C>T (p.Asn211=)
|
rs376405451
|
0.00006
|
NM_058246.4(DNAJB6):c.815C>T (p.Ala272Val)
|
rs978425267
|
0.00006
|
NM_058246.4(DNAJB6):c.832G>C (p.Glu278Gln)
|
rs886043886
|
0.00006
|
NM_058246.4(DNAJB6):c.869G>C (p.Gly290Ala)
|
rs765439077
|
0.00005
|
NM_058246.4(DNAJB6):c.*105C>T
|
rs534203597
|
0.00004
|
NM_058246.4(DNAJB6):c.*215C>T
|
rs953620507
|
0.00004
|
NM_058246.4(DNAJB6):c.230G>A (p.Gly77Glu)
|
rs372973038
|
0.00004
|
NM_058246.4(DNAJB6):c.276A>G (p.Thr92=)
|
rs765815570
|
0.00004
|
NM_058246.4(DNAJB6):c.343T>C (p.Phe115Leu)
|
rs553650027
|
0.00004
|
NM_058246.4(DNAJB6):c.347-14A>T
|
rs368036062
|
0.00004
|
NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)
|
rs772121051
|
0.00004
|
NM_058246.4(DNAJB6):c.507C>T (p.His169=)
|
rs199967671
|
0.00004
|
NM_058246.4(DNAJB6):c.510G>A (p.Gly170=)
|
rs548325183
|
0.00004
|
NM_058246.4(DNAJB6):c.66A>G (p.Ala22=)
|
rs140662370
|
0.00004
|
NM_058246.4(DNAJB6):c.692-16C>T
|
rs942589575
|
0.00004
|
NM_058246.4(DNAJB6):c.777G>A (p.Pro259=)
|
rs568868210
|
0.00004
|
NM_058246.4(DNAJB6):c.790C>T (p.Arg264Trp)
|
rs769302164
|
0.00004
|
NM_058246.4(DNAJB6):c.928C>A (p.Gln310Lys)
|
rs765886234
|
0.00004
|
NM_058246.4(DNAJB6):c.*289C>T
|
rs886062131
|
0.00003
|
NM_058246.4(DNAJB6):c.*528C>T
|
rs886062132
|
0.00003
|
NM_058246.4(DNAJB6):c.304G>A (p.Glu102Lys)
|
rs1286507533
|
0.00003
|
NM_058246.4(DNAJB6):c.479-5T>C
|
rs759259870
|
0.00003
|
NM_058246.4(DNAJB6):c.857C>T (p.Pro286Leu)
|
rs886044476
|
0.00003
|
NM_058246.4(DNAJB6):c.899-13C>T
|
rs374432835
|
0.00003
|
NM_058246.4(DNAJB6):c.*299A>G
|
rs939042113
|
0.00002
|
NM_058246.4(DNAJB6):c.*307G>A
|
rs1286436589
|
0.00002
|
NM_058246.4(DNAJB6):c.114T>C (p.Asn38=)
|
rs763596817
|
0.00002
|
NM_058246.4(DNAJB6):c.459A>C (p.Gly153=)
|
rs765102730
|
0.00002
|
NM_058246.4(DNAJB6):c.57T>C (p.Ile19=)
|
rs748568044
|
0.00002
|
NM_058246.4(DNAJB6):c.603A>G (p.Arg201=)
|
rs751462114
|
0.00002
|
NM_058246.4(DNAJB6):c.62A>G (p.Lys21Arg)
|
rs773834593
|
0.00002
|
NM_058246.4(DNAJB6):c.699C>T (p.Ala233=)
|
rs1200217329
|
0.00002
|
NM_058246.4(DNAJB6):c.69T>C (p.Tyr23=)
|
rs759652351
|
0.00002
|
NM_058246.4(DNAJB6):c.721G>A (p.Glu241Lys)
|
rs886043824
|
0.00002
|
NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)
|
rs969715884
|
0.00002
|
NM_058246.4(DNAJB6):c.816G>A (p.Ala272=)
|
rs762611514
|
0.00002
|
NM_058246.4(DNAJB6):c.883C>G (p.Leu295Val)
|
rs752873323
|
0.00002
|
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)
|
rs758663546
|
0.00002
|
NM_058246.4(DNAJB6):c.932A>G (p.Lys311Arg)
|
rs775708476
|
0.00002
|
NM_058246.4(DNAJB6):c.938G>A (p.Arg313Lys)
|
rs763185312
|
0.00002
|
NM_058246.4(DNAJB6):c.*1008G>A
|
rs928224062
|
0.00001
|
NM_058246.4(DNAJB6):c.*502A>G
|
rs1379188183
|
0.00001
|
NM_058246.4(DNAJB6):c.133A>G (p.Lys45Glu)
|
rs749917279
|
0.00001
|
NM_058246.4(DNAJB6):c.156A>G (p.Ala52=)
|
rs201239906
|
0.00001
|
NM_058246.4(DNAJB6):c.170C>T (p.Ser57Leu)
|
rs1389547780
|
0.00001
|
NM_058246.4(DNAJB6):c.171G>A (p.Ser57=)
|
rs771439631
|
0.00001
|
NM_058246.4(DNAJB6):c.203A>G (p.Tyr68Cys)
|
rs531186856
|
0.00001
|
NM_058246.4(DNAJB6):c.235+9G>A
|
rs552613359
|
0.00001
|
NM_058246.4(DNAJB6):c.235+9G>T
|
rs552613359
|
0.00001
|
NM_058246.4(DNAJB6):c.235+9del
|
rs1438023163
|
0.00001
|
NM_058246.4(DNAJB6):c.248T>C (p.Phe83Ser)
|
rs760970652
|
0.00001
|
NM_058246.4(DNAJB6):c.258A>G (p.Pro86=)
|
rs754329370
|
0.00001
|
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)
|
rs387907150
|
0.00001
|
NM_058246.4(DNAJB6):c.280C>T (p.Arg94Cys)
|
rs1799898371
|
0.00001
|
NM_058246.4(DNAJB6):c.333A>G (p.Ser111=)
|
rs893593114
|
0.00001
|
NM_058246.4(DNAJB6):c.347-3569A>G
|
rs1800598055
|
0.00001
|
NM_058246.4(DNAJB6):c.381G>T (p.Arg127Ser)
|
rs747600463
|
0.00001
|
NM_058246.4(DNAJB6):c.392G>T (p.Gly131Val)
|
rs777224069
|
0.00001
|
NM_058246.4(DNAJB6):c.397A>C (p.Arg133=)
|
rs1352437093
|
0.00001
|
NM_058246.4(DNAJB6):c.40G>T (p.Ala14Ser)
|
rs1392744517
|
0.00001
|
NM_058246.4(DNAJB6):c.411G>A (p.Thr137=)
|
rs749714667
|
0.00001
|
NM_058246.4(DNAJB6):c.438A>C (p.Gly146=)
|
rs112310856
|
0.00001
|
NM_058246.4(DNAJB6):c.444G>A (p.Pro148=)
|
rs754826358
|
0.00001
|
NM_058246.4(DNAJB6):c.534G>A (p.Thr178=)
|
rs779353985
|
0.00001
|
NM_058246.4(DNAJB6):c.547A>G (p.Ser183Gly)
|
rs772598402
|
0.00001
|
NM_058246.4(DNAJB6):c.562T>C (p.Phe188Leu)
|
rs886062128
|
0.00001
|
NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)
|
rs770053224
|
0.00001
|
NM_058246.4(DNAJB6):c.583A>G (p.Thr195Ala)
|
rs1185615542
|
0.00001
|
NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr)
|
rs781071853
|
0.00001
|
NM_058246.4(DNAJB6):c.620+6G>T
|
rs755805131
|
0.00001
|
NM_058246.4(DNAJB6):c.621-7C>A
|
rs374393229
|
0.00001
|
NM_058246.4(DNAJB6):c.65+17C>A
|
rs532279031
|
0.00001
|
NM_058246.4(DNAJB6):c.66-9C>G
|
rs371791420
|
0.00001
|
NM_058246.4(DNAJB6):c.676T>G (p.Ser226Ala)
|
rs1801013122
|
0.00001
|
NM_058246.4(DNAJB6):c.684A>G (p.Thr228=)
|
rs747995580
|
0.00001
|
NM_058246.4(DNAJB6):c.692-6C>T
|
rs1259833520
|
0.00001
|
NM_058246.4(DNAJB6):c.705C>T (p.Asp235=)
|
rs1364905222
|
0.00001
|
NM_058246.4(DNAJB6):c.709G>C (p.Ala237Pro)
|
rs753856844
|
0.00001
|
NM_058246.4(DNAJB6):c.723G>A (p.Glu241=)
|
rs886062129
|
0.00001
|
NM_058246.4(DNAJB6):c.748C>T (p.Leu250=)
|
rs1251793083
|
0.00001
|
NM_058246.4(DNAJB6):c.765C>T (p.Ala255=)
|
rs746862001
|
0.00001
|
NM_058246.4(DNAJB6):c.773G>A (p.Arg258His)
|
rs1795909873
|
0.00001
|
NM_058246.4(DNAJB6):c.798C>T (p.Ala266=)
|
rs775087124
|
0.00001
|
NM_058246.4(DNAJB6):c.799T>C (p.Ser267Pro)
|
rs971868513
|
0.00001
|
NM_058246.4(DNAJB6):c.801G>A (p.Ser267=)
|
rs1252030610
|
0.00001
|
NM_058246.4(DNAJB6):c.813C>T (p.His271=)
|
rs1238123023
|
0.00001
|
NM_058246.4(DNAJB6):c.824G>C (p.Cys275Ser)
|
rs1563154005
|
0.00001
|
NM_058246.4(DNAJB6):c.867C>T (p.Pro289=)
|
rs759621937
|
0.00001
|
NM_058246.4(DNAJB6):c.875G>A (p.Trp292Ter)
|
rs1370731126
|
0.00001
|
NM_058246.4(DNAJB6):c.891C>T (p.Ser297=)
|
rs886043951
|
0.00001
|
NM_058246.4(DNAJB6):c.898+20C>T
|
rs751300998
|
0.00001
|
NM_058246.4(DNAJB6):c.899-5C>T
|
rs1347168619
|
0.00001
|
NM_058246.4(DNAJB6):c.923A>G (p.Lys308Arg)
|
rs760098587
|
0.00001
|
NM_058246.4(DNAJB6):c.964A>T (p.Thr322Ser)
|
rs953132658
|
0.00001
|
NC_000007.13:g.(?_157151257)_(157208802_?)del
|
|
|
NC_000007.13:g.(?_157151267)_(157160197_?)dup
|
|
|
NC_000007.13:g.(?_157151267)_(157208792_?)dup
|
|
|
NC_000007.13:g.(?_157177541)_(157208792_?)dup
|
|
|
NC_000007.13:g.(?_157202469)_(157208792_?)dup
|
|
|
NC_000007.13:g.(?_157208690)_(157208792_?)dup
|
|
|
NM_058246.4(DNAJB6):c.*118G>A
|
rs886062130
|
|
NM_058246.4(DNAJB6):c.*1236G>A
|
rs886062137
|
|
NM_058246.4(DNAJB6):c.*243T>C
|
rs971860158
|
|
NM_058246.4(DNAJB6):c.*513C>T
|
rs538467964
|
|
NM_058246.4(DNAJB6):c.*586T>C
|
rs886062133
|
|
NM_058246.4(DNAJB6):c.*64C>A
|
rs562936080
|
|
NM_058246.4(DNAJB6):c.*664A>G
|
rs779593683
|
|
NM_058246.4(DNAJB6):c.*72C>A
|
rs116630040
|
|
NM_058246.4(DNAJB6):c.*781C>A
|
rs886062135
|
|
NM_058246.4(DNAJB6):c.*965T>C
|
rs1796122012
|
|
NM_058246.4(DNAJB6):c.*966C>T
|
rs143332396
|
|
NM_058246.4(DNAJB6):c.*98A>G
|
rs1796104403
|
|
NM_058246.4(DNAJB6):c.-108C>A
|
rs886062125
|
|
NM_058246.4(DNAJB6):c.-77G>A
|
rs951471745
|
|
NM_058246.4(DNAJB6):c.-7G>A
|
rs751502803
|
|
NM_058246.4(DNAJB6):c.-93G>T
|
rs886062126
|
|
NM_058246.4(DNAJB6):c.114del (p.Asn38fs)
|
rs1799690248
|
|
NM_058246.4(DNAJB6):c.122A>C (p.Glu41Ala)
|
rs201730743
|
|
NM_058246.4(DNAJB6):c.122A>G (p.Glu41Gly)
|
rs201730743
|
|
NM_058246.4(DNAJB6):c.135A>G (p.Lys45=)
|
|
|
NM_058246.4(DNAJB6):c.142C>G (p.Gln48Glu)
|
rs1799691943
|
|
NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val)
|
rs575604496
|
|
NM_058246.4(DNAJB6):c.160G>A (p.Glu54Lys)
|
rs2116974201
|
|
NM_058246.4(DNAJB6):c.165G>A (p.Val55=)
|
|
|
NM_058246.4(DNAJB6):c.166C>T (p.Leu56=)
|
rs1584901397
|
|
NM_058246.4(DNAJB6):c.172G>C (p.Asp58His)
|
|
|
NM_058246.4(DNAJB6):c.173A>G (p.Asp58Gly)
|
rs2116974323
|
|
NM_058246.4(DNAJB6):c.175+13G>A
|
rs376421671
|
|
NM_058246.4(DNAJB6):c.175+9C>T
|
|
|
NM_058246.4(DNAJB6):c.176-10C>A
|
rs764929861
|
|
NM_058246.4(DNAJB6):c.176-11T>A
|
rs1799851119
|
|
NM_058246.4(DNAJB6):c.176-19C>A
|
|
|
NM_058246.4(DNAJB6):c.176C>A (p.Ala59Asp)
|
|
|
NM_058246.4(DNAJB6):c.177T>C (p.Ala59=)
|
rs1407422617
|
|
NM_058246.4(DNAJB6):c.179A>G (p.Lys60Arg)
|
rs1057518860
|
|
NM_058246.4(DNAJB6):c.182A>G (p.Lys61Arg)
|
|
|
NM_058246.4(DNAJB6):c.183A>G (p.Lys61=)
|
|
|
NM_058246.4(DNAJB6):c.188A>G (p.Asp63Gly)
|
rs886062127
|
|
NM_058246.4(DNAJB6):c.189C>T (p.Asp63=)
|
|
|
NM_058246.4(DNAJB6):c.194A>G (p.Tyr65Cys)
|
|
|
NM_058246.4(DNAJB6):c.204T>C (p.Tyr68=)
|
|
|
NM_058246.4(DNAJB6):c.207C>G (p.Gly69=)
|
|
|
NM_058246.4(DNAJB6):c.212A>C (p.Glu71Ala)
|
|
|
NM_058246.4(DNAJB6):c.219A>G (p.Leu73=)
|
|
|
NM_058246.4(DNAJB6):c.21T>G (p.Val7=)
|
rs2116948761
|
|
NM_058246.4(DNAJB6):c.230G>T (p.Gly77Val)
|
rs372973038
|
|
NM_058246.4(DNAJB6):c.233G>A (p.Gly78Glu)
|
|
|
NM_058246.4(DNAJB6):c.235+12A>G
|
|
|
NM_058246.4(DNAJB6):c.235+13G>A
|
|
|
NM_058246.4(DNAJB6):c.235+18T>G
|
|
|
NM_058246.4(DNAJB6):c.235+19dup
|
|
|
NM_058246.4(DNAJB6):c.235+20C>G
|
|
|
NM_058246.4(DNAJB6):c.235+20C>T
|
|
|
NM_058246.4(DNAJB6):c.235+8C>T
|
rs377327513
|
|
NM_058246.4(DNAJB6):c.235G>A (p.Gly79Ser)
|
|
|
NM_058246.4(DNAJB6):c.236-17G>A
|
|
|
NM_058246.4(DNAJB6):c.236-1G>C
|
|
|
NM_058246.4(DNAJB6):c.236-3C>G
|
|
|
NM_058246.4(DNAJB6):c.236-9T>C
|
|
|
NM_058246.4(DNAJB6):c.236G>A (p.Gly79Asp)
|
rs575938861
|
|
NM_058246.4(DNAJB6):c.253A>G (p.Ser85Gly)
|
rs1554458350
|
|
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)
|
rs387907150
|
|
NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile)
|
rs869320701
|
|
NM_058246.4(DNAJB6):c.271T>C (p.Phe91Leu)
|
rs869320701
|
|
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)
|
rs869320701
|
|
NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)
|
rs759982570
|
|
NM_058246.4(DNAJB6):c.274A>C (p.Thr92Pro)
|
|
|
NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)
|
rs387907046
|
|
NM_058246.4(DNAJB6):c.278del (p.Phe93fs)
|
rs2116995503
|
|
NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)
|
rs149278319
|
|
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)
|
rs149278319
|
|
NM_058246.4(DNAJB6):c.27C>T (p.Gly9=)
|
|
|
NM_058246.4(DNAJB6):c.285C>G (p.Asn95Lys)
|
|
|
NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)
|
rs387907047
|
|
NM_058246.4(DNAJB6):c.287C>T (p.Pro96Leu)
|
|
|
NM_058246.4(DNAJB6):c.292_300del (p.Asp98_Phe100del)
|
rs2116995583
|
|
NM_058246.4(DNAJB6):c.296T>C (p.Val99Ala)
|
rs751839445
|
|
NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)
|
rs869320700
|
|
NM_058246.4(DNAJB6):c.302G>C (p.Arg101Thr)
|
rs1799899451
|
|
NM_058246.4(DNAJB6):c.325C>A (p.Pro109Thr)
|
rs780874443
|
|
NM_058246.4(DNAJB6):c.329T>C (p.Phe110Ser)
|
rs2116995798
|
|
NM_058246.4(DNAJB6):c.335T>C (p.Phe112Ser)
|
|
|
NM_058246.4(DNAJB6):c.340T>G (p.Phe114Val)
|
|
|
NM_058246.4(DNAJB6):c.340_341delinsGA (p.Phe114Asp)
|
|
|
NM_058246.4(DNAJB6):c.346+11C>T
|
|
|
NM_058246.4(DNAJB6):c.346+19T>A
|
|
|
NM_058246.4(DNAJB6):c.346+19T>C
|
|
|
NM_058246.4(DNAJB6):c.346+5G>A
|
rs869320702
|
|
NM_058246.4(DNAJB6):c.347-12_347-6del
|
rs1800820690
|
|
NM_058246.4(DNAJB6):c.347-17T>A
|
|
|
NM_058246.4(DNAJB6):c.347-18G>A
|
|
|
NM_058246.4(DNAJB6):c.357T>G (p.Phe119Leu)
|
|
|
NM_058246.4(DNAJB6):c.362A>G (p.Asp121Gly)
|
|
|
NM_058246.4(DNAJB6):c.363CTT[1] (p.Phe123del)
|
rs1563136940
|
|
NM_058246.4(DNAJB6):c.371G>A (p.Gly124Glu)
|
|
|
NM_058246.4(DNAJB6):c.376C>T (p.Arg126Ter)
|
|
|
NM_058246.4(DNAJB6):c.377G>A (p.Arg126Gln)
|
|
|
NM_058246.4(DNAJB6):c.382G>A (p.Gly128Ser)
|
|
|
NM_058246.4(DNAJB6):c.385C>A (p.Pro129Thr)
|
|
|
NM_058246.4(DNAJB6):c.386C>A (p.Pro129His)
|
|
|
NM_058246.4(DNAJB6):c.388C>T (p.Arg130Ter)
|
rs1302887386
|
|
NM_058246.4(DNAJB6):c.408G>C (p.Gly136=)
|
|
|
NM_058246.4(DNAJB6):c.412G>A (p.Gly138Arg)
|
|
|
NM_058246.4(DNAJB6):c.425C>T (p.Ser142Phe)
|
|
|
NM_058246.4(DNAJB6):c.428C>T (p.Ala143Val)
|
rs757767434
|
|
NM_058246.4(DNAJB6):c.429G>A (p.Ala143=)
|
rs150709673
|
|
NM_058246.4(DNAJB6):c.430T>C (p.Phe144Leu)
|
rs2117076306
|
|
NM_058246.4(DNAJB6):c.45dup (p.Pro16fs)
|
rs2116948867
|
|
NM_058246.4(DNAJB6):c.467del (p.Ser156fs)
|
|
|
NM_058246.4(DNAJB6):c.470T>A (p.Phe157Tyr)
|
rs1563137134
|
|
NM_058246.4(DNAJB6):c.476C>A (p.Thr159Lys)
|
|
|
NM_058246.4(DNAJB6):c.478+12C>G
|
|
|
NM_058246.4(DNAJB6):c.478+5T>G
|
|
|
NM_058246.4(DNAJB6):c.479-10T>G
|
rs886042415
|
|
NM_058246.4(DNAJB6):c.479-14C>T
|
|
|
NM_058246.4(DNAJB6):c.488C>T (p.Ser163Leu)
|
|
|
NM_058246.4(DNAJB6):c.48C>A (p.Pro16=)
|
|
|
NM_058246.4(DNAJB6):c.48C>G (p.Pro16=)
|
|
|
NM_058246.4(DNAJB6):c.491T>C (p.Phe164Ser)
|
|
|
NM_058246.4(DNAJB6):c.499C>G (p.Leu167Val)
|
|
|
NM_058246.4(DNAJB6):c.49G>T (p.Glu17Ter)
|
|
|
NM_058246.4(DNAJB6):c.508G>A (p.Gly170Arg)
|
|
|
NM_058246.4(DNAJB6):c.512G>T (p.Gly171Val)
|
rs1584927273
|
|
NM_058246.4(DNAJB6):c.513C>A (p.Gly171=)
|
rs886044069
|
|
NM_058246.4(DNAJB6):c.518C>T (p.Thr173Ile)
|
|
|
NM_058246.4(DNAJB6):c.522A>G (p.Ser174=)
|
|
|
NM_058246.4(DNAJB6):c.52G>A (p.Asp18Asn)
|
|
|
NM_058246.4(DNAJB6):c.55A>G (p.Ile19Val)
|
|
|
NM_058246.4(DNAJB6):c.567A>G (p.Lys189=)
|
rs2117090468
|
|
NM_058246.4(DNAJB6):c.571A>G (p.Ile191Val)
|
rs886043396
|
|
NM_058246.4(DNAJB6):c.574T>C (p.Ser192Pro)
|
|
|
NM_058246.4(DNAJB6):c.584_587del (p.Thr195fs)
|
|
|
NM_058246.4(DNAJB6):c.590T>A (p.Met197Lys)
|
|
|
NM_058246.4(DNAJB6):c.594T>G (p.Val198=)
|
|
|
NM_058246.4(DNAJB6):c.59A>G (p.Lys20Arg)
|
|
|
NM_058246.4(DNAJB6):c.607A>G (p.Ile203Val)
|
|
|
NM_058246.4(DNAJB6):c.611C>T (p.Thr204Ile)
|
|
|
NM_058246.4(DNAJB6):c.617A>C (p.Lys206Thr)
|
|
|
NM_058246.4(DNAJB6):c.620+16G>C
|
|
|
NM_058246.4(DNAJB6):c.620+16_620+17delinsAT
|
|
|
NM_058246.4(DNAJB6):c.620+17C>T
|
|
|
NM_058246.4(DNAJB6):c.621-16A>T
|
|
|
NM_058246.4(DNAJB6):c.621-17_621-16delinsTG
|
|
|
NM_058246.4(DNAJB6):c.621-18T>G
|
|
|
NM_058246.4(DNAJB6):c.621-4A>G
|
rs927500992
|
|
NM_058246.4(DNAJB6):c.621-6C>T
|
|
|
NM_058246.4(DNAJB6):c.621-8dup
|
|
|
NM_058246.4(DNAJB6):c.635G>A (p.Gly212Asp)
|
|
|
NM_058246.4(DNAJB6):c.636T>G (p.Gly212=)
|
|
|
NM_058246.4(DNAJB6):c.639A>G (p.Gln213=)
|
|
|
NM_058246.4(DNAJB6):c.63G>A (p.Lys21=)
|
rs886042682
|
|
NM_058246.4(DNAJB6):c.640G>C (p.Glu214Gln)
|
|
|
NM_058246.4(DNAJB6):c.645A>T (p.Arg215Ser)
|
|
|
NM_058246.4(DNAJB6):c.65+12del
|
|
|
NM_058246.4(DNAJB6):c.65+2T>C
|
rs1554455505
|
|
NM_058246.4(DNAJB6):c.65+9T>C
|
|
|
NM_058246.4(DNAJB6):c.651A>T (p.Glu217Asp)
|
rs2117093458
|
|
NM_058246.4(DNAJB6):c.657A>G (p.Glu219=)
|
rs2117093477
|
|
NM_058246.4(DNAJB6):c.65C>T (p.Ala22Val)
|
|
|
NM_058246.4(DNAJB6):c.66-12A>G
|
rs1799687292
|
|
NM_058246.4(DNAJB6):c.66-16C>T
|
|
|
NM_058246.4(DNAJB6):c.66-2A>G
|
|
|
NM_058246.4(DNAJB6):c.66-3A>C
|
rs1799687900
|
|
NM_058246.4(DNAJB6):c.66-5C>A
|
rs1563122846
|
|
NM_058246.4(DNAJB6):c.678C>T (p.Ser226=)
|
rs768446425
|
|
NM_058246.4(DNAJB6):c.681A>C (p.Leu227Phe)
|
rs1801013553
|
|
NM_058246.4(DNAJB6):c.685A>G (p.Ile229Val)
|
|
|
NM_058246.4(DNAJB6):c.688A>G (p.Asn230Asp)
|
rs1584927997
|
|
NM_058246.4(DNAJB6):c.691+18C>T
|
|
|
NM_058246.4(DNAJB6):c.691+19G>A
|
rs199612810
|
|
NM_058246.4(DNAJB6):c.691+8G>A
|
rs2117093713
|
|
NM_058246.4(DNAJB6):c.691+9C>A
|
|
|
NM_058246.4(DNAJB6):c.692-12C>T
|
|
|
NM_058246.4(DNAJB6):c.692-13G>A
|
|
|
NM_058246.4(DNAJB6):c.692-14C>T
|
|
|
NM_058246.4(DNAJB6):c.692-6C>G
|
rs1259833520
|
|
NM_058246.4(DNAJB6):c.692-8G>A
|
|
|
NM_058246.4(DNAJB6):c.695T>C (p.Val232Ala)
|
|
|
NM_058246.4(DNAJB6):c.69T>A (p.Tyr23Ter)
|
rs759652351
|
|
NM_058246.4(DNAJB6):c.700G>A (p.Asp234Asn)
|
|
|
NM_058246.4(DNAJB6):c.702C>T (p.Asp234=)
|
rs568383912
|
|
NM_058246.4(DNAJB6):c.707A>G (p.Asp236Gly)
|
|
|
NM_058246.4(DNAJB6):c.70C>T (p.Arg24Trp)
|
|
|
NM_058246.4(DNAJB6):c.710C>T (p.Ala237Val)
|
|
|
NM_058246.4(DNAJB6):c.711_724dup (p.Arg242fs)
|
|
|
NM_058246.4(DNAJB6):c.713_730dup (p.Leu238_Met243dup)
|
rs1795907158
|
|
NM_058246.4(DNAJB6):c.715G>C (p.Ala239Pro)
|
|
|
NM_058246.4(DNAJB6):c.715G>T (p.Ala239Ser)
|
|
|
NM_058246.4(DNAJB6):c.725G>A (p.Arg242His)
|
|
|
NM_058246.4(DNAJB6):c.725G>T (p.Arg242Leu)
|
|
|
NM_058246.4(DNAJB6):c.730C>T (p.Arg244Trp)
|
|
|
NM_058246.4(DNAJB6):c.731G>A (p.Arg244Gln)
|
rs1353253340
|
|
NM_058246.4(DNAJB6):c.744C>T (p.Asn248=)
|
|
|
NM_058246.4(DNAJB6):c.745G>C (p.Ala249Pro)
|
|
|
NM_058246.4(DNAJB6):c.747C>T (p.Ala249=)
|
|
|
NM_058246.4(DNAJB6):c.749_757dup (p.Ala252_Gln253insLeuProAla)
|
|
|
NM_058246.4(DNAJB6):c.754G>A (p.Ala252Thr)
|
|
|
NM_058246.4(DNAJB6):c.754G>C (p.Ala252Pro)
|
|
|
NM_058246.4(DNAJB6):c.75A>G (p.Lys25=)
|
rs2116973715
|
|
NM_058246.4(DNAJB6):c.761C>G (p.Pro254Arg)
|
|
|
NM_058246.4(DNAJB6):c.765C>A (p.Ala255=)
|
rs746862001
|
|
NM_058246.4(DNAJB6):c.766G>A (p.Gly256Ser)
|
|
|
NM_058246.4(DNAJB6):c.770T>A (p.Leu257His)
|
rs1554470011
|
|
NM_058246.4(DNAJB6):c.772C>T (p.Arg258Cys)
|
|
|
NM_058246.4(DNAJB6):c.779C>T (p.Pro260Leu)
|
|
|
NM_058246.4(DNAJB6):c.787_788delinsTT (p.Pro263Phe)
|
|
|
NM_058246.4(DNAJB6):c.797C>T (p.Ala266Val)
|
|
|
NM_058246.4(DNAJB6):c.801G>T (p.Ser267=)
|
rs1252030610
|
|
NM_058246.4(DNAJB6):c.814G>T (p.Ala272Ser)
|
rs1795912727
|
|
NM_058246.4(DNAJB6):c.822C>T (p.His274=)
|
|
|
NM_058246.4(DNAJB6):c.825T>C (p.Cys275=)
|
rs1034901113
|
|
NM_058246.4(DNAJB6):c.825T>G (p.Cys275Trp)
|
rs1034901113
|
|
NM_058246.4(DNAJB6):c.838G>A (p.Glu280Lys)
|
|
|
NM_058246.4(DNAJB6):c.839A>G (p.Glu280Gly)
|
rs2116650681
|
|
NM_058246.4(DNAJB6):c.844G>A (p.Glu282Lys)
|
rs911721201
|
|
NM_058246.4(DNAJB6):c.844G>T (p.Glu282Ter)
|
|
|
NM_058246.4(DNAJB6):c.845A>T (p.Glu282Val)
|
|
|
NM_058246.4(DNAJB6):c.866C>G (p.Pro289Arg)
|
|
|
NM_058246.4(DNAJB6):c.868G>A (p.Gly290Arg)
|
|
|
NM_058246.4(DNAJB6):c.868G>C (p.Gly290Arg)
|
rs886044456
|
|
NM_058246.4(DNAJB6):c.869G>A (p.Gly290Glu)
|
rs765439077
|
|
NM_058246.4(DNAJB6):c.882C>A (p.Pro294=)
|
rs2116651082
|
|
NM_058246.4(DNAJB6):c.885C>T (p.Leu295=)
|
|
|
NM_058246.4(DNAJB6):c.886G>A (p.Ala296Thr)
|
|
|
NM_058246.4(DNAJB6):c.892G>A (p.Ala298Thr)
|
|
|
NM_058246.4(DNAJB6):c.892G>T (p.Ala298Ser)
|
rs1470950962
|
|
NM_058246.4(DNAJB6):c.898+10G>A
|
rs1795917456
|
|
NM_058246.4(DNAJB6):c.898+15G>T
|
|
|
NM_058246.4(DNAJB6):c.898+17A>G
|
|
|
NM_058246.4(DNAJB6):c.898+1G>T
|
|
|
NM_058246.4(DNAJB6):c.899-12G>A
|
rs779492467
|
|
NM_058246.4(DNAJB6):c.938G>C (p.Arg313Thr)
|
|
|
NM_058246.4(DNAJB6):c.939_942del (p.Glu314fs)
|
rs1224632028
|
|
NM_058246.4(DNAJB6):c.940G>A (p.Glu314Lys)
|
rs1584956408
|
|
NM_058246.4(DNAJB6):c.947C>G (p.Ser316Trp)
|
rs371304535
|
|
NM_058246.4(DNAJB6):c.947C>T (p.Ser316Leu)
|
rs371304535
|
|
NM_058246.4(DNAJB6):c.948G>A (p.Ser316=)
|
rs565527346
|
|
NM_058246.4(DNAJB6):c.949AAG[3] (p.Lys320del)
|
rs778749161
|
|
NM_058246.4(DNAJB6):c.951G>A (p.Lys317=)
|
|
|
NM_058246.4(DNAJB6):c.961_972dup (p.Ser321_Gly324dup)
|
rs1554471187
|
|
NM_058246.4(DNAJB6):c.963G>T (p.Ser321=)
|
|
|
NM_058246.4(DNAJB6):c.970G>A (p.Gly324Ser)
|
rs1405569854
|
|
NM_058246.4(DNAJB6):c.970G>T (p.Gly324Cys)
|
|
|
NM_058246.4(DNAJB6):c.976C>A (p.His326Asn)
|
|
|
NM_058246.4(DNAJB6):c.980A>G (p.Ter327Trp)
|
|
|