ClinVar Miner

List of variants in gene DNAJB6 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 394
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HGVS dbSNP gnomAD frequency
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)

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