Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154837579_154837586delinsGTGCTGCACA2466807405F8c.*11_*18delinsTGCAGCAC (n.*11_*18delinsTGCAGCAC)
Xg.154837580_154837586delCA645237052F8c.*11_*17del (n.*11_*17del)
dbSNP gnomAD v2
Xg.154837586A=CA2466807410F8c.*11T= (n.*11T=)
dbSNP
Xg.154837586A>CCA645237056F8c.*11T>G (n.*11T>G)
dbSNP gnomAD v2 gnomAD v4
Xg.154837586A>GCA3008559959F8c.*11T>C (n.*11T>C)
Xg.154837587G>ACA3008560004F8c.*10C>T (n.*10C>T)
Xg.154837587G>TCA3008560022F8c.*10C>A (n.*10C>A)
Xg.154837588T>ACA645237057F8c.*9A>T (n.*9A>T)
dbSNP gnomAD v2 gnomAD v4
Xg.154837588T>CCA3008560051F8c.*9A>G (n.*9A>G)
Xg.154837588T>GCA645237058F8c.*9A>C (n.*9A>C)
dbSNP gnomAD v2
Xg.154837588T=CA2466807411F8c.*9A= (n.*9A=)
dbSNP
Xg.154837589G>ACA3008560162F8c.*8C>T (n.*8C>T)
Xg.154837589G>TCA2842707330F8c.*8C>A (n.*8C>A)
Xg.154837590dupCA3008560131F8c.*8dup (n.*8dup)
Xg.154837590G>ACA2695167407F8c.*7C>T (n.*7C>T)
gnomAD v4
Xg.154837590G>CCA3008560198F8c.*7C>G (n.*7C>G)
Xg.154837590G>TCA2838837035F8c.*7C>A (n.*7C>A)
Xg.154837591C>ACA3008560225F8c.*6G>T (n.*6G>T)
Xg.154837591C=CA2466807412F8c.*6G= (n.*6G=)
dbSNP
Xg.154837591C>TCA873360746F8c.*6G>A (n.*6G>A)
dbSNP gnomAD v3 gnomAD v4
Xg.154837592C>ACA2466807414F8c.*5G>T (n.*5G>T)
dbSNP
Xg.154837592C=CA2466807413F8c.*5G= (n.*5G=)
dbSNP
Xg.154837592C>TCA645237059F8c.*5G>A (n.*5G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154837594C>ACA2838837027F8c.*3G>T (n.*3G>T)
Xg.154837594C>GCA2695167408F8c.*3G>C (n.*3G>C)
gnomAD v4
Xg.154837596dupCA3008560257F8c.*3dup (n.*3dup)
Xg.154837595C>ACA3008560301F8c.*2G>T (n.*2G>T)
Xg.154837595C=CA2466807415F8c.*2G= (n.*2G=)
dbSNP
Xg.154837595C>GCA519355152F8c.*2G>C (n.*2G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154837596C>ACA2695167409F8c.*1G>T (n.*1G>T)
gnomAD v4
Xg.154837596C>TCA3008560373F8c.*1G>A (n.*1G>A)
Xg.154837597T>ACA414896481F8c.7056A>T (p.Ter2352Cys)
c.789A>T (p.Ter263Cys)
c.651A>T (p.Ter217Cys)
c.6951A>T (p.Ter2317Cys)
Xg.154837597T>CCA414896496F8c.7056A>G (p.Ter2352Trp)
c.789A>G (p.Ter263Trp)
c.651A>G (p.Ter217Trp)
c.6951A>G (p.Ter2317Trp)
Xg.154837597T>GCA414896501F8c.7056A>C (p.Ter2352Cys)
c.789A>C (p.Ter263Cys)
c.651A>C (p.Ter217Cys)
c.6951A>C (p.Ter2317Cys)
Xg.154837598C>ACA414896505F8c.7055G>T (p.Ter2352Leu)
c.788G>T (p.Ter263Leu)
c.650G>T (p.Ter217Leu)
c.6950G>T (p.Ter2317Leu)
Xg.154837598C>GCA414896509F8c.7055G>C (p.Ter2352Ser)
c.788G>C (p.Ter263Ser)
c.650G>C (p.Ter217Ser)
c.6950G>C (p.Ter2317Ser)
Xg.154837598C>TCA519355156F8c.7055G>A (p.Ter2352=)
c.788G>A (p.Ter263=)
c.650G>A (p.Ter217=)
c.6950G>A (p.Ter2317=)
Xg.154837599delCA2695237101F8c.7054del (p.Ter2352GluextTer?)
c.787del (p.Ter263GluextTer?)
c.649del (p.Ter217GluextTer?)
c.6949del (p.Ter2317GluextTer?)
Xg.154837599A=CA2466807416F8c.7054T= (p.Ter2352=)
c.787T= (p.Ter263=)
c.649T= (p.Ter217=)
c.6949T= (p.Ter2317=)
dbSNP
Xg.154837599A>CCA414896512F8c.7054T>G (p.Ter2352Gly)
c.787T>G (p.Ter263Gly)
c.649T>G (p.Ter217Gly)
c.6949T>G (p.Ter2317Gly)
Xg.154837599A>GCA414896515F8c.7054T>C (p.Ter2352Arg)
c.787T>C (p.Ter263Arg)
c.649T>C (p.Ter217Arg)
c.6949T>C (p.Ter2317Arg)
dbSNP
Xg.154837599A>TCA414896519F8c.7054T>A (p.Ter2352Arg)
c.787T>A (p.Ter263Arg)
c.649T>A (p.Ter217Arg)
c.6949T>A (p.Ter2317Arg)
Xg.154837600G>ACA519355157F8c.7053C>T (p.Tyr2351=)
c.786C>T (p.Tyr262=)
c.648C>T (p.Tyr216=)
c.6948C>T (p.Tyr2316=)
Xg.154837600G>CCA414896520F8c.7053C>G (p.Tyr2351Ter)
c.786C>G (p.Tyr262Ter)
c.648C>G (p.Tyr216Ter)
c.6948C>G (p.Tyr2316Ter)
Xg.154837600G>TCA414896521F8c.7053C>A (p.Tyr2351Ter)
c.786C>A (p.Tyr262Ter)
c.648C>A (p.Tyr216Ter)
c.6948C>A (p.Tyr2316Ter)
Xg.154837601T>ACA414896542F8c.7052A>T (p.Tyr2351Phe)
c.785A>T (p.Tyr262Phe)
c.647A>T (p.Tyr216Phe)
c.6947A>T (p.Tyr2316Phe)
Xg.154837601T>CCA414896538F8c.7052A>G (p.Tyr2351Cys)
c.785A>G (p.Tyr262Cys)
c.647A>G (p.Tyr216Cys)
c.6947A>G (p.Tyr2316Cys)
Xg.154837601T>GCA414896522F8c.7052A>C (p.Tyr2351Ser)
c.785A>C (p.Tyr262Ser)
c.647A>C (p.Tyr216Ser)
c.6947A>C (p.Tyr2316Ser)
Xg.154837601dupCA3008560421F8c.7052dup (p.Tyr2351Ter)
c.785dup (p.Tyr262Ter)
c.647dup (p.Tyr216Ter)
c.6947dup (p.Tyr2316Ter)
Xg.154837602delCA2838837030F8c.7051del (p.Tyr2351ThrfsTer?)
c.784del (p.Tyr262ThrfsTer?)
c.646del (p.Tyr216ThrfsTer?)
c.6946del (p.Tyr2316ThrfsTer?)

Number of alleles fetched