Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154996995T>ACA519384102F8c.366A>T (p.Val122=)
c.*152A>T (p.=)
c.261A>T (p.Val87=)
c.348A>T (p.Val116=)
Xg.154996995T>CCA519384103F8c.366A>G (p.Val122=)
c.*152A>G (p.=)
c.261A>G (p.Val87=)
c.348A>G (p.Val116=)
Xg.154996995T>GCA519384104F8c.366A>C (p.Val122=)
c.*152A>C (p.=)
c.261A>C (p.Val87=)
c.348A>C (p.Val116=)
Xg.154996995_154996997delinsTACCA2466857760F8c.364_366delinsGTA (p.Val122=)
c.*150_*152delinsGTA (p.=)
c.259_261delinsGTA (p.Val87=)
c.346_348delinsGTA (p.Val116=)
Xg.154996996A=CA2466857761F8c.365T= (p.Val122=)
c.*151T= (p.=)
c.260T= (p.Val87=)
c.347T= (p.Val116=)
Xg.154996996A>CCA414919917F8c.365T>G (p.Val122Gly)
c.*151T>G (p.=)
c.260T>G (p.Val87Gly)
c.347T>G (p.Val116Gly)
Xg.154996996A>GCA10568599F8c.365T>C (p.Val122Ala)
c.*151T>C (p.=)
c.260T>C (p.Val87Ala)
c.347T>C (p.Val116Ala)
dbSNP ExAC gnomAD
Xg.154996996A>TCA414919918F8c.365T>A (p.Val122Glu)
c.*151T>A (p.=)
c.260T>A (p.Val87Glu)
c.347T>A (p.Val116Glu)
Xg.154996998_154996999delCA255051F8c.364_365del (p.Val122IlefsTer7)
c.*150_*151del (p.=)
c.259_260del (p.Val87IlefsTer7)
c.346_347del (p.Val116IlefsTer7)
dbSNP
Xg.154996997C>ACA414919919F8c.364G>T (p.Val122Leu)
c.*150G>T (p.=)
c.259G>T (p.Val87Leu)
c.346G>T (p.Val116Leu)
Xg.154996997C=CA2466857762F8c.364G= (p.Val122=)
c.*150G= (p.=)
c.259G= (p.Val87=)
c.346G= (p.Val116=)
Xg.154996997C>GCA414919920F8c.364G>C (p.Val122Leu)
c.*150G>C (p.=)
c.259G>C (p.Val87Leu)
c.346G>C (p.Val116Leu)
Xg.154996997C>TCA414919921F8c.364G>A (p.Val122Ile)
c.*150G>A (p.=)
c.259G>A (p.Val87Ile)
c.346G>A (p.Val116Ile)
Xg.154996998A>CCA519384105F8c.363T>G (p.Gly121=)
c.*149T>G (p.=)
c.258T>G (p.Gly86=)
c.345T>G (p.Gly115=)
Xg.154996998A>GCA519384107F8c.363T>C (p.Gly121=)
c.*149T>C (p.=)
c.258T>C (p.Gly86=)
c.345T>C (p.Gly115=)
Xg.154996998A>TCA519384106F8c.363T>A (p.Gly121=)
c.*149T>A (p.=)
c.258T>A (p.Gly86=)
c.345T>A (p.Gly115=)
Xg.154996999C>ACA414919922F8c.362G>T (p.Gly121Val)
c.*148G>T (p.=)
c.257G>T (p.Gly86Val)
c.344G>T (p.Gly115Val)
Xg.154996999C>GCA414919923F8c.362G>C (p.Gly121Ala)
c.*148G>C (p.=)
c.257G>C (p.Gly86Ala)
c.344G>C (p.Gly115Ala)
Xg.154996999C>TCA414919924F8c.362G>A (p.Gly121Asp)
c.*148G>A (p.=)
c.257G>A (p.Gly86Asp)
c.344G>A (p.Gly115Asp)
Xg.154997000C>ACA414919927F8c.361G>T (p.Gly121Cys)
c.*147G>T (p.=)
c.256G>T (p.Gly86Cys)
c.343G>T (p.Gly115Cys)
Xg.154997000C>GCA414919925F8c.361G>C (p.Gly121Arg)
c.*147G>C (p.=)
c.256G>C (p.Gly86Arg)
c.343G>C (p.Gly115Arg)
Xg.154997000C>TCA414919926F8c.361G>A (p.Gly121Ser)
c.*147G>A (p.=)
c.256G>A (p.Gly86Ser)
c.343G>A (p.Gly115Ser)
Xg.154997000_154997001delinsCACA2466857763F8c.360_361delinsTG (p.Val120=)
c.*146_*147delinsTG (p.=)
c.255_256delinsTG (p.Val85=)
c.342_343delinsTG (p.Val114=)
Xg.154997001A>CCA519384108F8c.360T>G (p.Val120=)
c.*146T>G (p.=)
c.255T>G (p.Val85=)
c.342T>G (p.Val114=)
Xg.154997001A>GCA519384109F8c.360T>C (p.Val120=)
c.*146T>C (p.=)
c.255T>C (p.Val85=)
c.342T>C (p.Val114=)
Xg.154997001A>TCA519384110F8c.360T>A (p.Val120=)
c.*146T>A (p.=)
c.255T>A (p.Val85=)
c.342T>A (p.Val114=)
Xg.154997002delCA873357517F8c.360del (p.Gly121ValfsTer?)
c.*146del (p.=)
c.255del (p.Gly86ValfsTer?)
c.342del (p.Gly115ValfsTer?)
dbSNP
Xg.154997002A=CA2466857764F8c.359T= (p.Val120=)
c.*145T= (p.=)
c.254T= (p.Val85=)
c.341T= (p.Val114=)
Xg.154997002A>CCA414919928F8c.359T>G (p.Val120Gly)
c.*145T>G (p.=)
c.254T>G (p.Val85Gly)
c.341T>G (p.Val114Gly)
Xg.154997002A>GCA414919929F8c.359T>C (p.Val120Ala)
c.*145T>C (p.=)
c.254T>C (p.Val85Ala)
c.341T>C (p.Val114Ala)
ClinVar
Xg.154997002A>TCA414919930F8c.359T>A (p.Val120Asp)
c.*145T>A (p.=)
c.254T>A (p.Val85Asp)
c.341T>A (p.Val114Asp)
Xg.154997003C>ACA414919931F8c.358G>T (p.Val120Phe)
c.*144G>T (p.=)
c.253G>T (p.Val85Phe)
c.340G>T (p.Val114Phe)
Xg.154997003C>GCA414919932F8c.358G>C (p.Val120Leu)
c.*144G>C (p.=)
c.253G>C (p.Val85Leu)
c.340G>C (p.Val114Leu)
Xg.154997003C>TCA414919933F8c.358G>A (p.Val120Ile)
c.*144G>A (p.=)
c.253G>A (p.Val85Ile)
c.340G>A (p.Val114Ile)
Xg.154997004A>CCA519384111F8c.357T>G (p.Ala119=)
c.*143T>G (p.=)
c.252T>G (p.Ala84=)
c.339T>G (p.Ala113=)
Xg.154997004A>GCA519384112F8c.357T>C (p.Ala119=)
c.*143T>C (p.=)
c.252T>C (p.Ala84=)
c.339T>C (p.Ala113=)
Xg.154997004A>TCA519384113F8c.357T>A (p.Ala119=)
c.*143T>A (p.=)
c.252T>A (p.Ala84=)
c.339T>A (p.Ala113=)
Xg.154997005G>ACA414919934F8c.356C>T (p.Ala119Val)
c.*142C>T (p.=)
c.251C>T (p.Ala84Val)
c.338C>T (p.Ala113Val)
COSMIC COSMIC
Xg.154997005G>CCA414919935F8c.356C>G (p.Ala119Gly)
c.*142C>G (p.=)
c.251C>G (p.Ala84Gly)
c.338C>G (p.Ala113Gly)
Xg.154997005G>TCA414919936F8c.356C>A (p.Ala119Asp)
c.*142C>A (p.=)
c.251C>A (p.Ala84Asp)
c.338C>A (p.Ala113Asp)
Xg.154997006C>ACA414919939F8c.355G>T (p.Ala119Ser)
c.*141G>T (p.=)
c.250G>T (p.Ala84Ser)
c.337G>T (p.Ala113Ser)
Xg.154997006C=CA2466857765F8c.355G= (p.Ala119=)
c.*141G= (p.=)
c.250G= (p.Ala84=)
c.337G= (p.Ala113=)
Xg.154997006C>GCA414919938F8c.355G>C (p.Ala119Pro)
c.*141G>C (p.=)
c.250G>C (p.Ala84Pro)
c.337G>C (p.Ala113Pro)
Xg.154997006C>TCA414919937F8c.355G>A (p.Ala119Thr)
c.*141G>A (p.=)
c.250G>A (p.Ala84Thr)
c.337G>A (p.Ala113Thr)
COSMIC COSMIC
Xg.154997007A>CCA414919940F8c.354T>G (p.His118Gln)
c.*140T>G (p.=)
c.249T>G (p.His83Gln)
c.336T>G (p.His112Gln)
Xg.154997007A>GCA519384114F8c.354T>C (p.His118=)
c.*140T>C (p.=)
c.249T>C (p.His83=)
c.336T>C (p.His112=)
Xg.154997007A>TCA414919941F8c.354T>A (p.His118Gln)
c.*140T>A (p.=)
c.249T>A (p.His83Gln)
c.336T>A (p.His112Gln)
COSMIC COSMIC
Xg.154997008T>ACA414919942F8c.353A>T (p.His118Leu)
c.*139A>T (p.=)
c.248A>T (p.His83Leu)
c.335A>T (p.His112Leu)
Xg.154997008T>CCA414919943F8c.353A>G (p.His118Arg)
c.*139A>G (p.=)
c.248A>G (p.His83Arg)
c.335A>G (p.His112Arg)
Xg.154997008T>GCA414919944F8c.353A>C (p.His118Pro)
c.*139A>C (p.=)
c.248A>C (p.His83Pro)
c.335A>C (p.His112Pro)

Number of alleles fetched