Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.7070722C>ACA414969496TBL1Yc.593C>A (p.Ser198Tyr)
c.635C>A (p.Ser212Tyr)
Yg.7070722C>GCA414969497TBL1Yc.593C>G (p.Ser198Cys)
c.635C>G (p.Ser212Cys)
Yg.7070722C>TCA414969498TBL1Yc.593C>T (p.Ser198Phe)
c.635C>T (p.Ser212Phe)
Yg.7070723T>ACA519497310TBL1Yc.594T>A (p.Ser198=)
c.636T>A (p.Ser212=)
Yg.7070723T>CCA519497311TBL1Yc.594T>C (p.Ser198=)
c.636T>C (p.Ser212=)
Yg.7070723T>GCA519497313TBL1Yc.594T>G (p.Ser198=)
c.636T>G (p.Ser212=)
Yg.7070724G>ACA414969502TBL1Yc.595G>A (p.Gly199Arg)
c.637G>A (p.Gly213Arg)
Yg.7070724G>CCA414969503TBL1Yc.595G>C (p.Gly199Arg)
c.637G>C (p.Gly213Arg)
Yg.7070724G>TCA414969500TBL1Yc.595G>T (p.Gly199Ter)
c.637G>T (p.Gly213Ter)
Yg.7070725G>ACA10572155TBL1Yc.596G>A (p.Gly199Glu)
c.638G>A (p.Gly213Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070725G>CCA414969505TBL1Yc.596G>C (p.Gly199Ala)
c.638G>C (p.Gly213Ala)
Yg.7070725G=CA2469914962TBL1Yc.596G= (p.Gly199=)
c.638G= (p.Gly213=)
Yg.7070725G>TCA337560219TBL1Yc.596G>T (p.Gly199Val)
c.638G>T (p.Gly213Val)
dbSNP
Yg.7070726A=CA2469914963TBL1Yc.597A= (p.Gly199=)
c.639A= (p.Gly213=)
Yg.7070726A>CCA519497321TBL1Yc.597A>C (p.Gly199=)
c.639A>C (p.Gly213=)
Yg.7070726A>GCA10572156TBL1Yc.597A>G (p.Gly199=)
c.639A>G (p.Gly213=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070726A>TCA519497322TBL1Yc.597A>T (p.Gly199=)
c.639A>T (p.Gly213=)
Yg.7070727G>ACA414969507TBL1Yc.598G>A (p.Asp200Asn)
c.640G>A (p.Asp214Asn)
Yg.7070727G>CCA414969508TBL1Yc.598G>C (p.Asp200His)
c.640G>C (p.Asp214His)
Yg.7070727G>TCA414969509TBL1Yc.598G>T (p.Asp200Tyr)
c.640G>T (p.Asp214Tyr)
Yg.7070728A>CCA414969512TBL1Yc.599A>C (p.Asp200Ala)
c.641A>C (p.Asp214Ala)
Yg.7070728A>GCA414969513TBL1Yc.599A>G (p.Asp200Gly)
c.641A>G (p.Asp214Gly)
Yg.7070728A>TCA414969515TBL1Yc.599A>T (p.Asp200Val)
c.641A>T (p.Asp214Val)
Yg.7070729C>ACA414969517TBL1Yc.600C>A (p.Asp200Glu)
c.642C>A (p.Asp214Glu)
Yg.7070729C>GCA414969518TBL1Yc.600C>G (p.Asp200Glu)
c.642C>G (p.Asp214Glu)
Yg.7070729C>TCA519497338TBL1Yc.600C>T (p.Asp200=)
c.642C>T (p.Asp214=)
Yg.7070730T>ACA414969523TBL1Yc.601T>A (p.Ser201Thr)
c.643T>A (p.Ser215Thr)
Yg.7070730T>CCA414969522TBL1Yc.601T>C (p.Ser201Pro)
c.643T>C (p.Ser215Pro)
Yg.7070730T>GCA414969520TBL1Yc.601T>G (p.Ser201Ala)
c.643T>G (p.Ser215Ala)
Yg.7070731C>ACA414969525TBL1Yc.602C>A (p.Ser201Ter)
c.644C>A (p.Ser215Ter)
Yg.7070731C>GCA414969527TBL1Yc.602C>G (p.Ser201Ter)
c.644C>G (p.Ser215Ter)
Yg.7070731C>TCA414969528TBL1Yc.602C>T (p.Ser201Leu)
c.644C>T (p.Ser215Leu)
Yg.7070732A>CCA519497347TBL1Yc.603A>C (p.Ser201=)
c.645A>C (p.Ser215=)
Yg.7070732A>GCA519497348TBL1Yc.603A>G (p.Ser201=)
c.645A>G (p.Ser215=)
Yg.7070732A>TCA519497349TBL1Yc.603A>T (p.Ser201=)
c.645A>T (p.Ser215=)
Yg.7070733A=CA2469914964TBL1Yc.604A= (p.Thr202=)
c.646A= (p.Thr216=)
Yg.7070733A>CCA414969530TBL1Yc.604A>C (p.Thr202Pro)
c.646A>C (p.Thr216Pro)
Yg.7070733A>GCA414969531TBL1Yc.604A>G (p.Thr202Ala)
c.646A>G (p.Thr216Ala)
dbSNP gnomAD v2
Yg.7070733A>TCA414969532TBL1Yc.604A>T (p.Thr202Ser)
c.646A>T (p.Thr216Ser)
Yg.7070734C>ACA414969534TBL1Yc.605C>A (p.Thr202Asn)
c.647C>A (p.Thr216Asn)
Yg.7070734C>GCA414969536TBL1Yc.605C>G (p.Thr202Ser)
c.647C>G (p.Thr216Ser)
Yg.7070734C>TCA414969539TBL1Yc.605C>T (p.Thr202Ile)
c.647C>T (p.Thr216Ile)
Yg.7070735T>ACA519497351TBL1Yc.606T>A (p.Thr202=)
c.648T>A (p.Thr216=)
Yg.7070735T>CCA519497352TBL1Yc.606T>C (p.Thr202=)
c.648T>C (p.Thr216=)
Yg.7070735T>GCA519497353TBL1Yc.606T>G (p.Thr202=)
c.648T>G (p.Thr216=)
dbSNP gnomAD v2
Yg.7070735T=CA2469914965TBL1Yc.606T= (p.Thr202=)
c.648T= (p.Thr216=)
Yg.7070736G>ACA414969541TBL1Yc.607G>A (p.Ala203Thr)
c.649G>A (p.Ala217Thr)
Yg.7070736G>CCA414969544TBL1Yc.607G>C (p.Ala203Pro)
c.649G>C (p.Ala217Pro)
Yg.7070736G>TCA414969546TBL1Yc.607G>T (p.Ala203Ser)
c.649G>T (p.Ala217Ser)
Yg.7070737C>ACA414969554TBL1Yc.608C>A (p.Ala203Glu)
c.650C>A (p.Ala217Glu)
Yg.7070737C>GCA414969553TBL1Yc.608C>G (p.Ala203Gly)
c.650C>G (p.Ala217Gly)
Yg.7070737C>TCA414969550TBL1Yc.608C>T (p.Ala203Val)
c.650C>T (p.Ala217Val)
Yg.7070738A>CCA519497361TBL1Yc.609A>C (p.Ala203=)
c.651A>C (p.Ala217=)
Yg.7070738A>GCA519497363TBL1Yc.609A>G (p.Ala203=)
c.651A>G (p.Ala217=)
Yg.7070738A>TCA519497364TBL1Yc.609A>T (p.Ala203=)
c.651A>T (p.Ala217=)
Yg.7070739A>CCA519497367TBL1Yc.610A>C (p.Arg204=)
c.652A>C (p.Arg218=)
Yg.7070739A>GCA414969556TBL1Yc.610A>G (p.Arg204Gly)
c.652A>G (p.Arg218Gly)
Yg.7070739A>TCA414969557TBL1Yc.610A>T (p.Arg204Trp)
c.652A>T (p.Arg218Trp)
Yg.7070740G>ACA414969559TBL1Yc.611G>A (p.Arg204Lys)
c.653G>A (p.Arg218Lys)
Yg.7070740G>CCA414969562TBL1Yc.611G>C (p.Arg204Thr)
c.653G>C (p.Arg218Thr)
Yg.7070740G>TCA414969565TBL1Yc.611G>T (p.Arg204Met)
c.653G>T (p.Arg218Met)
Yg.7070741G>ACA519497373TBL1Yc.612G>A (p.Arg204=)
c.654G>A (p.Arg218=)
Yg.7070741G>CCA414969568TBL1Yc.612G>C (p.Arg204Ser)
c.654G>C (p.Arg218Ser)
Yg.7070741G>TCA414969571TBL1Yc.612G>T (p.Arg204Ser)
c.654G>T (p.Arg218Ser)
Yg.7070742A>CCA414969574TBL1Yc.613A>C (p.Ile205Leu)
c.655A>C (p.Ile219Leu)
Yg.7070742A>GCA414969575TBL1Yc.613A>G (p.Ile205Val)
c.655A>G (p.Ile219Val)
Yg.7070742A>TCA414969578TBL1Yc.613A>T (p.Ile205Leu)
c.655A>T (p.Ile219Leu)
Yg.7070743T>ACA414969580TBL1Yc.614T>A (p.Ile205Lys)
c.656T>A (p.Ile219Lys)
Yg.7070743T>CCA414969581TBL1Yc.614T>C (p.Ile205Thr)
c.656T>C (p.Ile219Thr)
Yg.7070743T>GCA414969584TBL1Yc.614T>G (p.Ile205Arg)
c.656T>G (p.Ile219Arg)
Yg.7070744A>CCA519497382TBL1Yc.615A>C (p.Ile205=)
c.657A>C (p.Ile219=)
Yg.7070744A>GCA414969588TBL1Yc.615A>G (p.Ile205Met)
c.657A>G (p.Ile219Met)
Yg.7070744A>TCA519497387TBL1Yc.615A>T (p.Ile205=)
c.657A>T (p.Ile219=)
Yg.7070745T>ACA414969594TBL1Yc.616T>A (p.Trp206Arg)
c.658T>A (p.Trp220Arg)
Yg.7070745T>CCA414969597TBL1Yc.616T>C (p.Trp206Arg)
c.658T>C (p.Trp220Arg)
Yg.7070745T>GCA414969599TBL1Yc.616T>G (p.Trp206Gly)
c.658T>G (p.Trp220Gly)
Yg.7070746G>ACA414969602TBL1Yc.617G>A (p.Trp206Ter)
c.659G>A (p.Trp220Ter)
Yg.7070746G>CCA414969603TBL1Yc.617G>C (p.Trp206Ser)
c.659G>C (p.Trp220Ser)
Yg.7070746G>TCA414969605TBL1Yc.617G>T (p.Trp206Leu)
c.659G>T (p.Trp220Leu)
Yg.7070747G>ACA414969608TBL1Yc.618G>A (p.Trp206Ter)
c.660G>A (p.Trp220Ter)
Yg.7070747G>CCA414969611TBL1Yc.618G>C (p.Trp206Cys)
c.660G>C (p.Trp220Cys)
Yg.7070747G>TCA414969613TBL1Yc.618G>T (p.Trp206Cys)
c.660G>T (p.Trp220Cys)
Yg.7070748A>CCA414969614TBL1Yc.619A>C (p.Asn207His)
c.661A>C (p.Asn221His)
Yg.7070748A>GCA414969615TBL1Yc.619A>G (p.Asn207Asp)
c.661A>G (p.Asn221Asp)
Yg.7070748A>TCA414969616TBL1Yc.619A>T (p.Asn207Tyr)
c.661A>T (p.Asn221Tyr)
Yg.7070749A>CCA414969618TBL1Yc.620A>C (p.Asn207Thr)
c.662A>C (p.Asn221Thr)
Yg.7070749A>GCA414969621TBL1Yc.620A>G (p.Asn207Ser)
c.662A>G (p.Asn221Ser)
Yg.7070749A>TCA414969620TBL1Yc.620A>T (p.Asn207Ile)
c.662A>T (p.Asn221Ile)
Yg.7070750C>ACA414969623TBL1Yc.621C>A (p.Asn207Lys)
c.663C>A (p.Asn221Lys)
Yg.7070750C>GCA414969625TBL1Yc.621C>G (p.Asn207Lys)
c.663C>G (p.Asn221Lys)
Yg.7070750C>TCA519497404TBL1Yc.621C>T (p.Asn207=)
c.663C>T (p.Asn221=)
Yg.7070751C>ACA414969627TBL1Yc.622C>A (p.Leu208Met)
c.664C>A (p.Leu222Met)
Yg.7070751C>GCA414969629TBL1Yc.622C>G (p.Leu208Val)
c.664C>G (p.Leu222Val)
Yg.7070751C>TCA519497409TBL1Yc.622C>T (p.Leu208=)
c.664C>T (p.Leu222=)
Yg.7070752T>ACA414969631TBL1Yc.623T>A (p.Leu208Gln)
c.665T>A (p.Leu222Gln)
Yg.7070752T>CCA414969633TBL1Yc.623T>C (p.Leu208Pro)
c.665T>C (p.Leu222Pro)
Yg.7070752T>GCA414969635TBL1Yc.623T>G (p.Leu208Arg)
c.665T>G (p.Leu222Arg)
Yg.7070753G>ACA519497414TBL1Yc.624G>A (p.Leu208=)
c.666G>A (p.Leu222=)
Yg.7070753G>CCA519497416TBL1Yc.624G>C (p.Leu208=)
c.666G>C (p.Leu222=)
Yg.7070753G>TCA519497415TBL1Yc.624G>T (p.Leu208=)
c.666G>T (p.Leu222=)
Yg.7070754A>CCA414969638TBL1Yc.625A>C (p.Asn209His)
c.667A>C (p.Asn223His)
Yg.7070754A>GCA414969639TBL1Yc.625A>G (p.Asn209Asp)
c.667A>G (p.Asn223Asp)
Yg.7070754A>TCA414969641TBL1Yc.625A>T (p.Asn209Tyr)
c.667A>T (p.Asn223Tyr)
Yg.7070755A>CCA414969644TBL1Yc.626A>C (p.Asn209Thr)
c.668A>C (p.Asn223Thr)
Yg.7070755A>GCA414969646TBL1Yc.626A>G (p.Asn209Ser)
c.668A>G (p.Asn223Ser)
Yg.7070755A>TCA414969648TBL1Yc.626A>T (p.Asn209Ile)
c.668A>T (p.Asn223Ile)
Yg.7070756T>ACA414969650TBL1Yc.627T>A (p.Asn209Lys)
c.669T>A (p.Asn223Lys)
Yg.7070756T>CCA519497427TBL1Yc.627T>C (p.Asn209=)
c.669T>C (p.Asn223=)
Yg.7070756T>GCA414969652TBL1Yc.627T>G (p.Asn209Lys)
c.669T>G (p.Asn223Lys)
Yg.7070757G>ACA414969654TBL1Yc.628G>A (p.Glu210Lys)
c.670G>A (p.Glu224Lys)
Yg.7070757G>CCA414969655TBL1Yc.628G>C (p.Glu210Gln)
c.670G>C (p.Glu224Gln)
Yg.7070757G=CA2469914966TBL1Yc.628G= (p.Glu210=)
c.670G= (p.Glu224=)
Yg.7070757G>TCA10572157TBL1Yc.628G>T (p.Glu210Ter)
c.670G>T (p.Glu224Ter)
dbSNP ExAC gnomAD v2
Yg.7070758A>CCA414969657TBL1Yc.629A>C (p.Glu210Ala)
c.671A>C (p.Glu224Ala)
Yg.7070758A>GCA414969658TBL1Yc.629A>G (p.Glu210Gly)
c.671A>G (p.Glu224Gly)
Yg.7070758A>TCA414969660TBL1Yc.629A>T (p.Glu210Val)
c.671A>T (p.Glu224Val)
Yg.7070759G>ACA519497434TBL1Yc.630G>A (p.Glu210=)
c.672G>A (p.Glu224=)
Yg.7070759G>CCA414969662TBL1Yc.630G>C (p.Glu210Asp)
c.672G>C (p.Glu224Asp)
Yg.7070759G>TCA414969664TBL1Yc.630G>T (p.Glu210Asp)
c.672G>T (p.Glu224Asp)
Yg.7070760A>CCA414969665TBL1Yc.631A>C (p.Asn211His)
c.673A>C (p.Asn225His)
Yg.7070760A>GCA414969666TBL1Yc.631A>G (p.Asn211Asp)
c.673A>G (p.Asn225Asp)
Yg.7070760A>TCA414969668TBL1Yc.631A>T (p.Asn211Tyr)
c.673A>T (p.Asn225Tyr)
Yg.7070761A>CCA414969671TBL1Yc.632A>C (p.Asn211Thr)
c.674A>C (p.Asn225Thr)
Yg.7070761A>GCA414969672TBL1Yc.632A>G (p.Asn211Ser)
c.674A>G (p.Asn225Ser)
Yg.7070761A>TCA414969675TBL1Yc.632A>T (p.Asn211Ile)
c.674A>T (p.Asn225Ile)
Yg.7070762T>ACA414969679TBL1Yc.633T>A (p.Asn211Lys)
c.675T>A (p.Asn225Lys)
Yg.7070762T>CCA519497443TBL1Yc.633T>C (p.Asn211=)
c.675T>C (p.Asn225=)
Yg.7070762T>GCA414969681TBL1Yc.633T>G (p.Asn211Lys)
c.675T>G (p.Asn225Lys)
Yg.7070763A=CA2469914967TBL1Yc.634A= (p.Ser212=)
c.676A= (p.Ser226=)
Yg.7070763A>CCA414969683TBL1Yc.634A>C (p.Ser212Arg)
c.676A>C (p.Ser226Arg)
Yg.7070763A>GCA414969685TBL1Yc.634A>G (p.Ser212Gly)
c.676A>G (p.Ser226Gly)
Yg.7070763A>TCA10572158TBL1Yc.634A>T (p.Ser212Cys)
c.676A>T (p.Ser226Cys)
dbSNP ExAC gnomAD v2 COSMIC
Yg.7070764G>ACA414969691TBL1Yc.635G>A (p.Ser212Asn)
c.677G>A (p.Ser226Asn)
Yg.7070764G>CCA414969692TBL1Yc.635G>C (p.Ser212Thr)
c.677G>C (p.Ser226Thr)
Yg.7070764G>TCA414969695TBL1Yc.635G>T (p.Ser212Ile)
c.677G>T (p.Ser226Ile)
Yg.7070765C>ACA414969698TBL1Yc.636C>A (p.Ser212Arg)
c.678C>A (p.Ser226Arg)
Yg.7070765C>GCA414969700TBL1Yc.636C>G (p.Ser212Arg)
c.678C>G (p.Ser226Arg)
Yg.7070765C>TCA519497453TBL1Yc.636C>T (p.Ser212=)
c.678C>T (p.Ser226=)
Yg.7070766A>CCA414969704TBL1Yc.637A>C (p.Asn213His)
c.679A>C (p.Asn227His)
Yg.7070766A>GCA414969705TBL1Yc.637A>G (p.Asn213Asp)
c.679A>G (p.Asn227Asp)
Yg.7070766A>TCA414969708TBL1Yc.637A>T (p.Asn213Tyr)
c.679A>T (p.Asn227Tyr)
Yg.7070767A>CCA414969716TBL1Yc.638A>C (p.Asn213Thr)
c.680A>C (p.Asn227Thr)
Yg.7070767A>GCA414969713TBL1Yc.638A>G (p.Asn213Ser)
c.680A>G (p.Asn227Ser)
Yg.7070767A>TCA414969710TBL1Yc.638A>T (p.Asn213Ile)
c.680A>T (p.Asn227Ile)
Yg.7070768C>ACA414969719TBL1Yc.639C>A (p.Asn213Lys)
c.681C>A (p.Asn227Lys)
Yg.7070768C=CA2469914968TBL1Yc.639C= (p.Asn213=)
c.681C= (p.Asn227=)
Yg.7070768C>GCA414969721TBL1Yc.639C>G (p.Asn213Lys)
c.681C>G (p.Asn227Lys)
Yg.7070768C>TCA10572159TBL1Yc.639C>T (p.Asn213=)
c.681C>T (p.Asn227=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070769G>ACA337560232TBL1Yc.640G>A (p.Gly214Arg)
c.682G>A (p.Gly228Arg)
dbSNP
Yg.7070769G>CCA414969729TBL1Yc.640G>C (p.Gly214Arg)
c.682G>C (p.Gly228Arg)
Yg.7070769G=CA2469914969TBL1Yc.640G= (p.Gly214=)
c.682G= (p.Gly228=)
Yg.7070769G>TCA414969732TBL1Yc.640G>T (p.Gly214Trp)
c.682G>T (p.Gly228Trp)
Yg.7070773dupCA2824507524TBL1Yc.644dup (p.Ser216LeufsTer20)
c.686dup (p.Ser230LeufsTer20)
Yg.7070773delCA2579746977TBL1Yc.644del (p.Gly215AlafsTer7)
c.686del (p.Gly229AlafsTer7)
Yg.7070770G>ACA414969734TBL1Yc.641G>A (p.Gly214Glu)
c.683G>A (p.Gly228Glu)
Yg.7070770G>CCA414969743TBL1Yc.641G>C (p.Gly214Ala)
c.683G>C (p.Gly228Ala)
Yg.7070770G>TCA414969746TBL1Yc.641G>T (p.Gly214Val)
c.683G>T (p.Gly228Val)
Yg.7070771G>ACA519497473TBL1Yc.642G>A (p.Gly214=)
c.684G>A (p.Gly228=)
Yg.7070771G>CCA519497474TBL1Yc.642G>C (p.Gly214=)
c.684G>C (p.Gly228=)
Yg.7070771G>TCA519497480TBL1Yc.642G>T (p.Gly214=)
c.684G>T (p.Gly228=)
Yg.7070772G>ACA414969748TBL1Yc.643G>A (p.Gly215Ser)
c.685G>A (p.Gly229Ser)
Yg.7070772G>CCA414969751TBL1Yc.643G>C (p.Gly215Arg)
c.685G>C (p.Gly229Arg)
Yg.7070772G>TCA414969752TBL1Yc.643G>T (p.Gly215Cys)
c.685G>T (p.Gly229Cys)
Yg.7070773G>ACA414969758TBL1Yc.644G>A (p.Gly215Asp)
c.686G>A (p.Gly229Asp)
Yg.7070773G>CCA414969754TBL1Yc.644G>C (p.Gly215Ala)
c.686G>C (p.Gly229Ala)
Yg.7070773G=CA2469914970TBL1Yc.644G= (p.Gly215=)
c.686G= (p.Gly229=)
Yg.7070773G>TCA10572160TBL1Yc.644G>T (p.Gly215Val)
c.686G>T (p.Gly229Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070774C>ACA519497497TBL1Yc.645C>A (p.Gly215=)
c.687C>A (p.Gly229=)
Yg.7070774C>GCA519497495TBL1Yc.645C>G (p.Gly215=)
c.687C>G (p.Gly229=)
Yg.7070774C>TCA519497494TBL1Yc.645C>T (p.Gly215=)
c.687C>T (p.Gly229=)
Yg.7070775T>ACA414969760TBL1Yc.646T>A (p.Ser216Thr)
c.688T>A (p.Ser230Thr)
Yg.7070775T>CCA414969765TBL1Yc.646T>C (p.Ser216Pro)
c.688T>C (p.Ser230Pro)
Yg.7070775T>GCA414969762TBL1Yc.646T>G (p.Ser216Ala)
c.688T>G (p.Ser230Ala)
Yg.7070776C>ACA414969767TBL1Yc.647C>A (p.Ser216Tyr)
c.689C>A (p.Ser230Tyr)
Yg.7070776C>GCA414969770TBL1Yc.647C>G (p.Ser216Cys)
c.689C>G (p.Ser230Cys)
Yg.7070776C>TCA414969772TBL1Yc.647C>T (p.Ser216Phe)
c.689C>T (p.Ser230Phe)
Yg.7070777C>ACA519497500TBL1Yc.648C>A (p.Ser216=)
c.690C>A (p.Ser230=)
Yg.7070777C>GCA519497501TBL1Yc.648C>G (p.Ser216=)
c.690C>G (p.Ser230=)
Yg.7070777C>TCA519497503TBL1Yc.648C>T (p.Ser216=)
c.690C>T (p.Ser230=)
Yg.7070778A>CCA414969775TBL1Yc.649A>C (p.Thr217Pro)
c.691A>C (p.Thr231Pro)
Yg.7070778A>GCA414969776TBL1Yc.649A>G (p.Thr217Ala)
c.691A>G (p.Thr231Ala)
Yg.7070778A>TCA414969779TBL1Yc.649A>T (p.Thr217Ser)
c.691A>T (p.Thr231Ser)
Yg.7070779C>ACA414969782TBL1Yc.650C>A (p.Thr217Asn)
c.692C>A (p.Thr231Asn)
Yg.7070779C>GCA414969784TBL1Yc.650C>G (p.Thr217Ser)
c.692C>G (p.Thr231Ser)
Yg.7070779C>TCA414969786TBL1Yc.650C>T (p.Thr217Ile)
c.692C>T (p.Thr231Ile)
Yg.7070780C>ACA519497510TBL1Yc.651C>A (p.Thr217=)
c.693C>A (p.Thr231=)
Yg.7070780C>GCA519497514TBL1Yc.651C>G (p.Thr217=)
c.693C>G (p.Thr231=)
Yg.7070780C>TCA519497512TBL1Yc.651C>T (p.Thr217=)
c.693C>T (p.Thr231=)
gnomAD v3 gnomAD v4
Yg.7070781C>ACA414969795TBL1Yc.652C>A (p.Gln218Lys)
c.694C>A (p.Gln232Lys)
Yg.7070781C>GCA414969792TBL1Yc.652C>G (p.Gln218Glu)
c.694C>G (p.Gln232Glu)
Yg.7070781C>TCA414969790TBL1Yc.652C>T (p.Gln218Ter)
c.694C>T (p.Gln232Ter)
Yg.7070782A>CCA414969806TBL1Yc.653A>C (p.Gln218Pro)
c.695A>C (p.Gln232Pro)
Yg.7070782A>GCA414969808TBL1Yc.653A>G (p.Gln218Arg)
c.695A>G (p.Gln232Arg)
Yg.7070782A>TCA414969809TBL1Yc.653A>T (p.Gln218Leu)
c.695A>T (p.Gln232Leu)
Yg.7070783G>ACA519497522TBL1Yc.654G>A (p.Gln218=)
c.696G>A (p.Gln232=)
Yg.7070783G>CCA414969812TBL1Yc.654G>C (p.Gln218His)
c.696G>C (p.Gln232His)
Yg.7070783G>TCA414969813TBL1Yc.654G>T (p.Gln218His)
c.696G>T (p.Gln232His)
Yg.7070784C>ACA414969814TBL1Yc.655C>A (p.Leu219Ile)
c.697C>A (p.Leu233Ile)
dbSNP gnomAD v2
Yg.7070784C=CA2469914971TBL1Yc.655C= (p.Leu219=)
c.697C= (p.Leu233=)
Yg.7070784C>GCA414969815TBL1Yc.655C>G (p.Leu219Val)
c.697C>G (p.Leu233Val)
Yg.7070784C>TCA414969816TBL1Yc.655C>T (p.Leu219Phe)
c.697C>T (p.Leu233Phe)
Yg.7070785T>ACA414969817TBL1Yc.656T>A (p.Leu219His)
c.698T>A (p.Leu233His)
Yg.7070785T>CCA414969818TBL1Yc.656T>C (p.Leu219Pro)
c.698T>C (p.Leu233Pro)
Yg.7070785T>GCA414969820TBL1Yc.656T>G (p.Leu219Arg)
c.698T>G (p.Leu233Arg)
Yg.7070786C>ACA519497532TBL1Yc.657C>A (p.Leu219=)
c.699C>A (p.Leu233=)
Yg.7070786C=CA2469914972TBL1Yc.657C= (p.Leu219=)
c.699C= (p.Leu233=)
Yg.7070786C>GCA519497539TBL1Yc.657C>G (p.Leu219=)
c.699C>G (p.Leu233=)
Yg.7070786C>TCA519497535TBL1Yc.657C>T (p.Leu219=)
c.699C>T (p.Leu233=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070787G>ACA10572161TBL1Yc.658G>A (p.Val220Met)
c.700G>A (p.Val234Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070787G>CCA414969823TBL1Yc.658G>C (p.Val220Leu)
c.700G>C (p.Val234Leu)
Yg.7070787G=CA2469914973TBL1Yc.658G= (p.Val220=)
c.700G= (p.Val234=)
Yg.7070787G>TCA414969822TBL1Yc.658G>T (p.Val220Leu)
c.700G>T (p.Val234Leu)
Yg.7070788T>ACA414969832TBL1Yc.659T>A (p.Val220Glu)
c.701T>A (p.Val234Glu)
Yg.7070788T>CCA414969828TBL1Yc.659T>C (p.Val220Ala)
c.701T>C (p.Val234Ala)
Yg.7070788T>GCA414969830TBL1Yc.659T>G (p.Val220Gly)
c.701T>G (p.Val234Gly)
Yg.7070789G>ACA519497543TBL1Yc.660G>A (p.Val220=)
c.702G>A (p.Val234=)
Yg.7070789G>CCA519497545TBL1Yc.660G>C (p.Val220=)
c.702G>C (p.Val234=)
Yg.7070789G>TCA519497546TBL1Yc.660G>T (p.Val220=)
c.702G>T (p.Val234=)
Yg.7070790T>ACA414969836TBL1Yc.661T>A (p.Leu221Met)
c.703T>A (p.Leu235Met)
Yg.7070790T>CCA519497550TBL1Yc.661T>C (p.Leu221=)
c.703T>C (p.Leu235=)
Yg.7070790T>GCA414969839TBL1Yc.661T>G (p.Leu221Val)
c.703T>G (p.Leu235Val)
Yg.7070791T>ACA414969844TBL1Yc.662T>A (p.Leu221Ter)
c.704T>A (p.Leu235Ter)
Yg.7070791T>CCA414969847TBL1Yc.662T>C (p.Leu221Ser)
c.704T>C (p.Leu235Ser)
Yg.7070791T>GCA414969849TBL1Yc.662T>G (p.Leu221Trp)
c.704T>G (p.Leu235Trp)
Yg.7070792G>ACA519497554TBL1Yc.663G>A (p.Leu221=)
c.705G>A (p.Leu235=)
Yg.7070792G>CCA414969853TBL1Yc.663G>C (p.Leu221Phe)
c.705G>C (p.Leu235Phe)
Yg.7070792G>TCA414969856TBL1Yc.663G>T (p.Leu221Phe)
c.705G>T (p.Leu235Phe)
Yg.7070793A>CCA519497559TBL1Yc.664A>C (p.Arg222=)
c.706A>C (p.Arg236=)
Yg.7070793A>GCA414969859TBL1Yc.664A>G (p.Arg222Gly)
c.706A>G (p.Arg236Gly)
Yg.7070793A>TCA414969861TBL1Yc.664A>T (p.Arg222Ter)
c.706A>T (p.Arg236Ter)
Yg.7070794G>ACA414969868TBL1Yc.665G>A (p.Arg222Lys)
c.707G>A (p.Arg236Lys)
Yg.7070794G>CCA414969864TBL1Yc.665G>C (p.Arg222Thr)
c.707G>C (p.Arg236Thr)
Yg.7070794G>TCA414969866TBL1Yc.665G>T (p.Arg222Ile)
c.707G>T (p.Arg236Ile)
Yg.7070795A=CA2469914974TBL1Yc.666A= (p.Arg222=)
c.708A= (p.Arg236=)
Yg.7070795A>CCA414969870TBL1Yc.666A>C (p.Arg222Ser)
c.708A>C (p.Arg236Ser)
Yg.7070795A>GCA10572162TBL1Yc.666A>G (p.Arg222=)
c.708A>G (p.Arg236=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070795A>TCA414969872TBL1Yc.666A>T (p.Arg222Ser)
c.708A>T (p.Arg236Ser)
Yg.7070796C>ACA414969873TBL1Yc.667C>A (p.His223Asn)
c.709C>A (p.His237Asn)
Yg.7070796C>GCA414969874TBL1Yc.667C>G (p.His223Asp)
c.709C>G (p.His237Asp)
Yg.7070796C>TCA414969875TBL1Yc.667C>T (p.His223Tyr)
c.709C>T (p.His237Tyr)
Yg.7070797A>CCA414969876TBL1Yc.668A>C (p.His223Pro)
c.710A>C (p.His237Pro)
Yg.7070797A>GCA414969877TBL1Yc.668A>G (p.His223Arg)
c.710A>G (p.His237Arg)
Yg.7070797A>TCA414969878TBL1Yc.668A>T (p.His223Leu)
c.710A>T (p.His237Leu)
Yg.7070798T>ACA414969879TBL1Yc.669T>A (p.His223Gln)
c.711T>A (p.His237Gln)
Yg.7070798T>CCA519497582TBL1Yc.669T>C (p.His223=)
c.711T>C (p.His237=)
Yg.7070798T>GCA414969880TBL1Yc.669T>G (p.His223Gln)
c.711T>G (p.His237Gln)
Yg.7070799T>ACA414969882TBL1Yc.670T>A (p.Cys224Ser)
c.712T>A (p.Cys238Ser)
Yg.7070799T>CCA414969883TBL1Yc.670T>C (p.Cys224Arg)
c.712T>C (p.Cys238Arg)
Yg.7070799T>GCA414969881TBL1Yc.670T>G (p.Cys224Gly)
c.712T>G (p.Cys238Gly)
Yg.7070800G>ACA10572163TBL1Yc.671G>A (p.Cys224Tyr)
c.713G>A (p.Cys238Tyr)
dbSNP ExAC gnomAD v2
Yg.7070800G>CCA414969885TBL1Yc.671G>C (p.Cys224Ser)
c.713G>C (p.Cys238Ser)
Yg.7070800G=CA2469914975TBL1Yc.671G= (p.Cys224=)
c.713G= (p.Cys238=)
Yg.7070800G>TCA414969884TBL1Yc.671G>T (p.Cys224Phe)
c.713G>T (p.Cys238Phe)
Yg.7070801T>ACA414969886TBL1Yc.672T>A (p.Cys224Ter)
c.714T>A (p.Cys238Ter)
Yg.7070801T>CCA519497593TBL1Yc.672T>C (p.Cys224=)
c.714T>C (p.Cys238=)
Yg.7070801T>GCA414969887TBL1Yc.672T>G (p.Cys224Trp)
c.714T>G (p.Cys238Trp)
Yg.7070802A>CCA414969888TBL1Yc.673A>C (p.Ile225Leu)
c.715A>C (p.Ile239Leu)
Yg.7070802A>GCA414969889TBL1Yc.673A>G (p.Ile225Val)
c.715A>G (p.Ile239Val)
Yg.7070802A>TCA414969890TBL1Yc.673A>T (p.Ile225Leu)
c.715A>T (p.Ile239Leu)
Yg.7070803T>ACA414969891TBL1Yc.674T>A (p.Ile225Lys)
c.716T>A (p.Ile239Lys)
Yg.7070803T>CCA10572164TBL1Yc.674T>C (p.Ile225Thr)
c.716T>C (p.Ile239Thr)
dbSNP ExAC gnomAD v2
Yg.7070803T>GCA414969892TBL1Yc.674T>G (p.Ile225Arg)
c.716T>G (p.Ile239Arg)
Yg.7070803T=CA2469914976TBL1Yc.674T= (p.Ile225=)
c.716T= (p.Ile239=)
Yg.7070804A>CCA519497605TBL1Yc.675A>C (p.Ile225=)
c.717A>C (p.Ile239=)
Yg.7070804A>GCA414969893TBL1Yc.675A>G (p.Ile225Met)
c.717A>G (p.Ile239Met)
Yg.7070804A>TCA519497609TBL1Yc.675A>T (p.Ile225=)
c.717A>T (p.Ile239=)
Yg.7070805C>ACA519497611TBL1Yc.676C>A (p.Arg226=)
c.718C>A (p.Arg240=)
Yg.7070805C=CA2469914977TBL1Yc.676C= (p.Arg226=)
c.718C= (p.Arg240=)
Yg.7070805C>GCA414969894TBL1Yc.676C>G (p.Arg226Gly)
c.718C>G (p.Arg240Gly)
Yg.7070805C>TCA414969895TBL1Yc.676C>T (p.Arg226Ter)
c.718C>T (p.Arg240Ter)
dbSNP gnomAD v2
Yg.7070806G>ACA414969896TBL1Yc.677G>A (p.Arg226Gln)
c.719G>A (p.Arg240Gln)
dbSNP gnomAD v2
Yg.7070806G>CCA414969898TBL1Yc.677G>C (p.Arg226Pro)
c.719G>C (p.Arg240Pro)
Yg.7070806G=CA2469914978TBL1Yc.677G= (p.Arg226=)
c.719G= (p.Arg240=)
Yg.7070806G>TCA414969897TBL1Yc.677G>T (p.Arg226Leu)
c.719G>T (p.Arg240Leu)
Yg.7070807A>CCA519497620TBL1Yc.678A>C (p.Arg226=)
c.720A>C (p.Arg240=)
Yg.7070807A>GCA519497622TBL1Yc.678A>G (p.Arg226=)
c.720A>G (p.Arg240=)
Yg.7070807A>TCA519497623TBL1Yc.678A>T (p.Arg226=)
c.720A>T (p.Arg240=)
Yg.7070808G>ACA414969899TBL1Yc.679G>A (p.Glu227Lys)
c.721G>A (p.Glu241Lys)
Yg.7070808G>CCA414969900TBL1Yc.679G>C (p.Glu227Gln)
c.721G>C (p.Glu241Gln)
Yg.7070808G>TCA414969901TBL1Yc.679G>T (p.Glu227Ter)
c.721G>T (p.Glu241Ter)
dbSNP
Yg.7070809A>CCA414969902TBL1Yc.680A>C (p.Glu227Ala)
c.722A>C (p.Glu241Ala)
Yg.7070809A>GCA414969903TBL1Yc.680A>G (p.Glu227Gly)
c.722A>G (p.Glu241Gly)
Yg.7070809A>TCA414969904TBL1Yc.680A>T (p.Glu227Val)
c.722A>T (p.Glu241Val)
Yg.7070810A=CA2469914979TBL1Yc.681A= (p.Glu227=)
c.723A= (p.Glu241=)
Yg.7070810A>CCA414969905TBL1Yc.681A>C (p.Glu227Asp)
c.723A>C (p.Glu241Asp)
COSMIC
Yg.7070810A>GCA519497630TBL1Yc.681A>G (p.Glu227=)
c.723A>G (p.Glu241=)
Yg.7070810A>TCA414969906TBL1Yc.681A>T (p.Glu227Asp)
c.723A>T (p.Glu241Asp)
Yg.7070811G>ACA414969909TBL1Yc.682G>A (p.Gly228Arg)
c.724G>A (p.Gly242Arg)
Yg.7070811G>CCA414969908TBL1Yc.682G>C (p.Gly228Arg)
c.724G>C (p.Gly242Arg)
Yg.7070811G>TCA414969907TBL1Yc.682G>T (p.Gly228Trp)
c.724G>T (p.Gly242Trp)
Yg.7070816dupCA10572165TBL1Yc.687dup (p.His230AlafsTer6)
c.729dup (p.His244AlafsTer6)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070812G>ACA414969910TBL1Yc.683G>A (p.Gly228Glu)
c.725G>A (p.Gly242Glu)
Yg.7070812G>CCA414969911TBL1Yc.683G>C (p.Gly228Ala)
c.725G>C (p.Gly242Ala)
Yg.7070812G>TCA414969912TBL1Yc.683G>T (p.Gly228Val)
c.725G>T (p.Gly242Val)
Yg.7070813G>ACA519497636TBL1Yc.684G>A (p.Gly228=)
c.726G>A (p.Gly242=)
Yg.7070813G>CCA519497637TBL1Yc.684G>C (p.Gly228=)
c.726G>C (p.Gly242=)
Yg.7070813G>TCA519497638TBL1Yc.684G>T (p.Gly228=)
c.726G>T (p.Gly242=)
Yg.7070814G>ACA10572166TBL1Yc.685G>A (p.Gly229Arg)
c.727G>A (p.Gly243Arg)
dbSNP ExAC gnomAD v2
Yg.7070814G>CCA414969913TBL1Yc.685G>C (p.Gly229Arg)
c.727G>C (p.Gly243Arg)
Yg.7070814G=CA2469914980TBL1Yc.685G= (p.Gly229=)
c.727G= (p.Gly243=)
Yg.7070814G>TCA414969914TBL1Yc.685G>T (p.Gly229Trp)
c.727G>T (p.Gly243Trp)
Yg.7070815G>ACA414969915TBL1Yc.686G>A (p.Gly229Glu)
c.728G>A (p.Gly243Glu)
dbSNP gnomAD v2
Yg.7070815G>CCA414969916TBL1Yc.686G>C (p.Gly229Ala)
c.728G>C (p.Gly243Ala)
Yg.7070815G=CA2469914981TBL1Yc.686G= (p.Gly229=)
c.728G= (p.Gly243=)
Yg.7070815G>TCA414969917TBL1Yc.686G>T (p.Gly229Val)
c.728G>T (p.Gly243Val)
Yg.7070816G>ACA519497648TBL1Yc.687G>A (p.Gly229=)
c.729G>A (p.Gly243=)
Yg.7070816G>CCA519497649TBL1Yc.687G>C (p.Gly229=)
c.729G>C (p.Gly243=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070816G=CA2469914982TBL1Yc.687G= (p.Gly229=)
c.729G= (p.Gly243=)
Yg.7070816G>TCA519497651TBL1Yc.687G>T (p.Gly229=)
c.729G>T (p.Gly243=)
Yg.7070817C>ACA414969918TBL1Yc.688C>A (p.His230Asn)
c.730C>A (p.His244Asn)
Yg.7070817C=CA2469914983TBL1Yc.688C= (p.His230=)
c.730C= (p.His244=)
Yg.7070817C>GCA414969919TBL1Yc.688C>G (p.His230Asp)
c.730C>G (p.His244Asp)
Yg.7070817C>TCA414969920TBL1Yc.688C>T (p.His230Tyr)
c.730C>T (p.His244Tyr)
dbSNP gnomAD v2
Yg.7070818A>CCA414969921TBL1Yc.689A>C (p.His230Pro)
c.731A>C (p.His244Pro)
Yg.7070818A>GCA414969923TBL1Yc.689A>G (p.His230Arg)
c.731A>G (p.His244Arg)
Yg.7070818A>TCA414969922TBL1Yc.689A>T (p.His230Leu)
c.731A>T (p.His244Leu)
Yg.7070819C>ACA414969924TBL1Yc.690C>A (p.His230Gln)
c.732C>A (p.His244Gln)
Yg.7070819C=CA2469914984TBL1Yc.690C= (p.His230=)
c.732C= (p.His244=)
Yg.7070819C>GCA414969925TBL1Yc.690C>G (p.His230Gln)
c.732C>G (p.His244Gln)
Yg.7070819C>TCA519497661TBL1Yc.690C>T (p.His230=)
c.732C>T (p.His244=)
dbSNP gnomAD v3 gnomAD v4
Yg.7070820G>ACA414969926TBL1Yc.691G>A (p.Asp231Asn)
c.733G>A (p.Asp245Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.7070820G>CCA414969927TBL1Yc.691G>C (p.Asp231His)
c.733G>C (p.Asp245His)
Yg.7070820G=CA2469914985TBL1Yc.691G= (p.Asp231=)
c.733G= (p.Asp245=)
Yg.7070820G>TCA414969928TBL1Yc.691G>T (p.Asp231Tyr)
c.733G>T (p.Asp245Tyr)
Yg.7070821A>CCA414969929TBL1Yc.692A>C (p.Asp231Ala)
c.734A>C (p.Asp245Ala)
Yg.7070821A>GCA414969930TBL1Yc.692A>G (p.Asp231Gly)
c.734A>G (p.Asp245Gly)
Yg.7070821A>TCA414969931TBL1Yc.692A>T (p.Asp231Val)
c.734A>T (p.Asp245Val)
Yg.7070822C>ACA414969932TBL1Yc.693C>A (p.Asp231Glu)
c.735C>A (p.Asp245Glu)
Yg.7070822C>GCA414969933TBL1Yc.693C>G (p.Asp231Glu)
c.735C>G (p.Asp245Glu)
Yg.7070822C>TCA519497671TBL1Yc.693C>T (p.Asp231=)
c.735C>T (p.Asp245=)

Number of alleles fetched