Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154837577_154837772delCA915940534F8c.6901-20_*20del
c.634-20_*20del
c.496-20_*20del
c.6796-20_*20del
Xg.154837588T>ACA645237057F8c.*9A>T (n.*9A>T)
dbSNP gnomAD v2 gnomAD v4
Xg.154837588T>GCA645237058F8c.*9A>C (n.*9A>C)
dbSNP gnomAD v2
Xg.154837588T=CA2466807411F8c.*9A= (n.*9A=)
Xg.154837590G>ACA2695167407F8c.*7C>T (n.*7C>T)
gnomAD v4
Xg.154837591C=CA2466807412F8c.*6G= (n.*6G=)
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=)
Xg.154837592C>TCA645237059F8c.*5G>A (n.*5G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154837594C>GCA2695167408F8c.*3G>C (n.*3G>C)
gnomAD v4
Xg.154837595C=CA2466807415F8c.*2G= (n.*2G=)
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.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=)
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.154837602A>CCA414896543F8c.7051T>G (p.Tyr2351Asp)
c.784T>G (p.Tyr262Asp)
c.646T>G (p.Tyr216Asp)
c.6946T>G (p.Tyr2316Asp)
Xg.154837602A>GCA414896545F8c.7051T>C (p.Tyr2351His)
c.784T>C (p.Tyr262His)
c.646T>C (p.Tyr216His)
c.6946T>C (p.Tyr2316His)
Xg.154837602A>TCA414896547F8c.7051T>A (p.Tyr2351Asn)
c.784T>A (p.Tyr262Asn)
c.646T>A (p.Tyr216Asn)
c.6946T>A (p.Tyr2316Asn)
Xg.154837603G>ACA519355160F8c.7050C>T (p.Leu2350=)
c.783C>T (p.Leu261=)
c.645C>T (p.Leu215=)
c.6945C>T (p.Leu2315=)
COSMIC COSMIC
Xg.154837603G>CCA519355161F8c.7050C>G (p.Leu2350=)
c.783C>G (p.Leu261=)
c.645C>G (p.Leu215=)
c.6945C>G (p.Leu2315=)
Xg.154837603G>TCA519355162F8c.7050C>A (p.Leu2350=)
c.783C>A (p.Leu261=)
c.645C>A (p.Leu215=)
c.6945C>A (p.Leu2315=)
Xg.154837604A=CA2466807417F8c.7049T= (p.Leu2350=)
c.782T= (p.Leu261=)
c.644T= (p.Leu215=)
c.6944T= (p.Leu2315=)
Xg.154837604A>CCA414896548F8c.7049T>G (p.Leu2350Arg)
c.782T>G (p.Leu261Arg)
c.644T>G (p.Leu215Arg)
c.6944T>G (p.Leu2315Arg)
dbSNP gnomAD v2
Xg.154837604A>GCA414896549F8c.7049T>C (p.Leu2350Pro)
c.782T>C (p.Leu261Pro)
c.644T>C (p.Leu215Pro)
c.6944T>C (p.Leu2315Pro)
Xg.154837604A>TCA414896551F8c.7049T>A (p.Leu2350His)
c.782T>A (p.Leu261His)
c.644T>A (p.Leu215His)
c.6944T>A (p.Leu2315His)
Xg.154837605G>ACA414896554F8c.7048C>T (p.Leu2350Phe)
c.781C>T (p.Leu261Phe)
c.643C>T (p.Leu215Phe)
c.6943C>T (p.Leu2315Phe)
Xg.154837605G>CCA414896557F8c.7048C>G (p.Leu2350Val)
c.781C>G (p.Leu261Val)
c.643C>G (p.Leu215Val)
c.6943C>G (p.Leu2315Val)
Xg.154837605G>TCA414896560F8c.7048C>A (p.Leu2350Ile)
c.781C>A (p.Leu261Ile)
c.643C>A (p.Leu215Ile)
c.6943C>A (p.Leu2315Ile)
Xg.154837606G>ACA519355163F8c.7047C>T (p.Asp2349=)
c.780C>T (p.Asp260=)
c.642C>T (p.Asp214=)
c.6942C>T (p.Asp2314=)
gnomAD v4
Xg.154837606G>CCA414896568F8c.7047C>G (p.Asp2349Glu)
c.780C>G (p.Asp260Glu)
c.642C>G (p.Asp214Glu)
c.6942C>G (p.Asp2314Glu)
Xg.154837606G>TCA414896570F8c.7047C>A (p.Asp2349Glu)
c.780C>A (p.Asp260Glu)
c.642C>A (p.Asp214Glu)
c.6942C>A (p.Asp2314Glu)
Xg.154837607T>ACA414896579F8c.7046A>T (p.Asp2349Val)
c.779A>T (p.Asp260Val)
c.641A>T (p.Asp214Val)
c.6941A>T (p.Asp2314Val)
Xg.154837607T>CCA414896573F8c.7046A>G (p.Asp2349Gly)
c.779A>G (p.Asp260Gly)
c.641A>G (p.Asp214Gly)
c.6941A>G (p.Asp2314Gly)
Xg.154837607T>GCA414896577F8c.7046A>C (p.Asp2349Ala)
c.779A>C (p.Asp260Ala)
c.641A>C (p.Asp214Ala)
c.6941A>C (p.Asp2314Ala)
gnomAD v4

Number of alleles fetched