Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.68925650G>ACA390178071ACTN1c.-68C>T (n.-68C>T)
n.416C>T
c.128C>T (p.Ser43Phe)
n.222C>T
c.125C>T (p.Ser42Phe)
c.65C>T (p.Ser22Phe)
c.59C>T (p.Ser20Phe)
c.215C>T (p.Ser72Phe)
14g.68925650G>CCA390178073ACTN1c.-68C>G (n.-68C>G)
n.416C>G
c.128C>G (p.Ser43Cys)
n.222C>G
c.125C>G (p.Ser42Cys)
c.65C>G (p.Ser22Cys)
c.59C>G (p.Ser20Cys)
c.215C>G (p.Ser72Cys)
14g.68925650G>TCA390178072ACTN1c.-68C>A (n.-68C>A)
n.416C>A
c.128C>A (p.Ser43Tyr)
n.222C>A
c.125C>A (p.Ser42Tyr)
c.65C>A (p.Ser22Tyr)
c.59C>A (p.Ser20Tyr)
c.215C>A (p.Ser72Tyr)
14g.68925651A=CA2144526312ACTN1c.-69T= (n.-69T=)
n.415T=
c.127T= (p.Ser43=)
n.221T=
c.124T= (p.Ser42=)
c.64T= (p.Ser22=)
c.58T= (p.Ser20=)
c.214T= (p.Ser72=)
14g.68925651A>CCA7242799ACTN1c.-69T>G (n.-69T>G)
n.415T>G
c.127T>G (p.Ser43Ala)
n.221T>G
c.124T>G (p.Ser42Ala)
c.64T>G (p.Ser22Ala)
c.58T>G (p.Ser20Ala)
c.214T>G (p.Ser72Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925651A>GCA390178074ACTN1c.-69T>C (n.-69T>C)
n.415T>C
c.127T>C (p.Ser43Pro)
n.221T>C
c.124T>C (p.Ser42Pro)
c.64T>C (p.Ser22Pro)
c.58T>C (p.Ser20Pro)
c.214T>C (p.Ser72Pro)
14g.68925651A>TCA390178075ACTN1c.-69T>A (n.-69T>A)
n.415T>A
c.127T>A (p.Ser43Thr)
n.221T>A
c.124T>A (p.Ser42Thr)
c.64T>A (p.Ser22Thr)
c.58T>A (p.Ser20Thr)
c.214T>A (p.Ser72Thr)
 ClinVar dbSNP gnomAD v4
14g.68925652G>ACA486985297ACTN1c.-70C>T (n.-70C>T)
n.414C>T
c.126C>T (p.Asn42=)
n.220C>T
c.123C>T (p.Asn41=)
c.63C>T (p.Asn21=)
c.57C>T (p.Asn19=)
c.213C>T (p.Asn71=)
 gnomAD v4
14g.68925652G>CCA390178076ACTN1c.-70C>G (n.-70C>G)
n.414C>G
c.126C>G (p.Asn42Lys)
n.220C>G
c.123C>G (p.Asn41Lys)
c.63C>G (p.Asn21Lys)
c.57C>G (p.Asn19Lys)
c.213C>G (p.Asn71Lys)
14g.68925652G>TCA390178077ACTN1c.-70C>A (n.-70C>A)
n.414C>A
c.126C>A (p.Asn42Lys)
n.220C>A
c.123C>A (p.Asn41Lys)
c.63C>A (p.Asn21Lys)
c.57C>A (p.Asn19Lys)
c.213C>A (p.Asn71Lys)
14g.68925653T>ACA390178078ACTN1c.-71A>T (n.-71A>T)
n.413A>T
c.125A>T (p.Asn42Ile)
n.219A>T
c.122A>T (p.Asn41Ile)
c.62A>T (p.Asn21Ile)
c.56A>T (p.Asn19Ile)
c.212A>T (p.Asn71Ile)
14g.68925653T>CCA390178079ACTN1c.-71A>G (n.-71A>G)
n.413A>G
c.125A>G (p.Asn42Ser)
n.219A>G
c.122A>G (p.Asn41Ser)
c.62A>G (p.Asn21Ser)
c.56A>G (p.Asn19Ser)
c.212A>G (p.Asn71Ser)
14g.68925653T>GCA390178080ACTN1c.-71A>C (n.-71A>C)
n.413A>C
c.125A>C (p.Asn42Thr)
n.219A>C
c.122A>C (p.Asn41Thr)
c.62A>C (p.Asn21Thr)
c.56A>C (p.Asn19Thr)
c.212A>C (p.Asn71Thr)
14g.68925654T>ACA390178081ACTN1c.-72A>T (n.-72A>T)
n.412A>T
c.124A>T (p.Asn42Tyr)
n.218A>T
c.121A>T (p.Asn41Tyr)
c.61A>T (p.Asn21Tyr)
c.55A>T (p.Asn19Tyr)
c.211A>T (p.Asn71Tyr)
14g.68925654T>CCA390178082ACTN1c.-72A>G (n.-72A>G)
n.412A>G
c.124A>G (p.Asn42Asp)
n.218A>G
c.121A>G (p.Asn41Asp)
c.61A>G (p.Asn21Asp)
c.55A>G (p.Asn19Asp)
c.211A>G (p.Asn71Asp)
14g.68925654T>GCA390178083ACTN1c.-72A>C (n.-72A>C)
n.412A>C
c.124A>C (p.Asn42His)
n.218A>C
c.121A>C (p.Asn41His)
c.61A>C (p.Asn21His)
c.55A>C (p.Asn19His)
c.211A>C (p.Asn71His)
14g.68925655A>CCA390178084ACTN1c.-73T>G (n.-73T>G)
n.411T>G
c.123T>G (p.Cys41Trp)
n.217T>G
c.120T>G (p.Cys40Trp)
c.60T>G (p.Cys20Trp)
c.54T>G (p.Cys18Trp)
c.210T>G (p.Cys70Trp)
14g.68925655A>GCA486985300ACTN1c.-73T>C (n.-73T>C)
n.411T>C
c.123T>C (p.Cys41=)
n.217T>C
c.120T>C (p.Cys40=)
c.60T>C (p.Cys20=)
c.54T>C (p.Cys18=)
c.210T>C (p.Cys70=)
 COSMIC COSMIC
14g.68925655A>TCA390178085ACTN1c.-73T>A (n.-73T>A)
n.411T>A
c.123T>A (p.Cys41Ter)
n.217T>A
c.120T>A (p.Cys40Ter)
c.60T>A (p.Cys20Ter)
c.54T>A (p.Cys18Ter)
c.210T>A (p.Cys70Ter)
14g.68925656C>ACA390178086ACTN1c.-74G>T (n.-74G>T)
n.410G>T
c.122G>T (p.Cys41Phe)
n.216G>T
c.119G>T (p.Cys40Phe)
c.59G>T (p.Cys20Phe)
c.53G>T (p.Cys18Phe)
c.209G>T (p.Cys70Phe)
14g.68925656C>GCA390178088ACTN1c.-74G>C (n.-74G>C)
n.410G>C
c.122G>C (p.Cys41Ser)
n.216G>C
c.119G>C (p.Cys40Ser)
c.59G>C (p.Cys20Ser)
c.53G>C (p.Cys18Ser)
c.209G>C (p.Cys70Ser)
14g.68925656C>TCA390178087ACTN1c.-74G>A (n.-74G>A)
n.410G>A
c.122G>A (p.Cys41Tyr)
n.216G>A
c.119G>A (p.Cys40Tyr)
c.59G>A (p.Cys20Tyr)
c.53G>A (p.Cys18Tyr)
c.209G>A (p.Cys70Tyr)
 gnomAD v4
14g.68925657A>CCA390178089ACTN1c.-75T>G (n.-75T>G)
n.409T>G
c.121T>G (p.Cys41Gly)
n.215T>G
c.118T>G (p.Cys40Gly)
c.58T>G (p.Cys20Gly)
c.52T>G (p.Cys18Gly)
c.208T>G (p.Cys70Gly)
14g.68925657A>GCA390178090ACTN1c.-75T>C (n.-75T>C)
n.409T>C
c.121T>C (p.Cys41Arg)
n.215T>C
c.118T>C (p.Cys40Arg)
c.58T>C (p.Cys20Arg)
c.52T>C (p.Cys18Arg)
c.208T>C (p.Cys70Arg)
14g.68925657A>TCA390178091ACTN1c.-75T>A (n.-75T>A)
n.409T>A
c.121T>A (p.Cys41Ser)
n.215T>A
c.118T>A (p.Cys40Ser)
c.58T>A (p.Cys20Ser)
c.52T>A (p.Cys18Ser)
c.208T>A (p.Cys70Ser)
14g.68925658C>ACA390178092ACTN1c.-76G>T (n.-76G>T)
n.408G>T
c.120G>T (p.Trp40Cys)
n.214G>T
c.117G>T (p.Trp39Cys)
c.57G>T (p.Trp19Cys)
c.51G>T (p.Trp17Cys)
c.207G>T (p.Trp69Cys)
14g.68925658C>GCA390178093ACTN1c.-76G>C (n.-76G>C)
n.408G>C
c.120G>C (p.Trp40Cys)
n.214G>C
c.117G>C (p.Trp39Cys)
c.57G>C (p.Trp19Cys)
c.51G>C (p.Trp17Cys)
c.207G>C (p.Trp69Cys)
14g.68925658C>TCA390178094ACTN1c.-76G>A (n.-76G>A)
n.408G>A
c.120G>A (p.Trp40Ter)
n.214G>A
c.117G>A (p.Trp39Ter)
c.57G>A (p.Trp19Ter)
c.51G>A (p.Trp17Ter)
c.207G>A (p.Trp69Ter)
14g.68925659C>ACA390178095ACTN1c.-77G>T (n.-77G>T)
n.407G>T
c.119G>T (p.Trp40Leu)
n.213G>T
c.116G>T (p.Trp39Leu)
c.56G>T (p.Trp19Leu)
c.50G>T (p.Trp17Leu)
c.206G>T (p.Trp69Leu)
14g.68925659C>GCA390178096ACTN1c.-77G>C (n.-77G>C)
n.407G>C
c.119G>C (p.Trp40Ser)
n.213G>C
c.116G>C (p.Trp39Ser)
c.56G>C (p.Trp19Ser)
c.50G>C (p.Trp17Ser)
c.206G>C (p.Trp69Ser)
14g.68925659C>TCA390178097ACTN1c.-77G>A (n.-77G>A)
n.407G>A
c.119G>A (p.Trp40Ter)
n.213G>A
c.116G>A (p.Trp39Ter)
c.56G>A (p.Trp19Ter)
c.50G>A (p.Trp17Ter)
c.206G>A (p.Trp69Ter)
14g.68925660A>CCA390178100ACTN1c.-78T>G (n.-78T>G)
n.406T>G
c.118T>G (p.Trp40Gly)
n.212T>G
c.115T>G (p.Trp39Gly)
c.55T>G (p.Trp19Gly)
c.49T>G (p.Trp17Gly)
c.205T>G (p.Trp69Gly)
14g.68925660A>GCA390178099ACTN1c.-78T>C (n.-78T>C)
n.406T>C
c.118T>C (p.Trp40Arg)
n.212T>C
c.115T>C (p.Trp39Arg)
c.55T>C (p.Trp19Arg)
c.49T>C (p.Trp17Arg)
c.205T>C (p.Trp69Arg)
14g.68925660A>TCA390178098ACTN1c.-78T>A (n.-78T>A)
n.406T>A
c.118T>A (p.Trp40Arg)
n.212T>A
c.115T>A (p.Trp39Arg)
c.55T>A (p.Trp19Arg)
c.49T>A (p.Trp17Arg)
c.205T>A (p.Trp69Arg)
14g.68925661T>ACA7242801ACTN1c.-79A>T (n.-79A>T)
n.405A>T
c.117A>T (p.Ala39=)
n.211A>T
c.114A>T (p.Ala38=)
c.54A>T (p.Ala18=)
c.48A>T (p.Ala16=)
c.204A>T (p.Ala68=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925661T>CCA7242800ACTN1c.-79A>G (n.-79A>G)
n.405A>G
c.117A>G (p.Ala39=)
n.211A>G
c.114A>G (p.Ala38=)
c.54A>G (p.Ala18=)
c.48A>G (p.Ala16=)
c.204A>G (p.Ala68=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.68925661T>GCA486985306ACTN1c.-79A>C (n.-79A>C)
n.405A>C
c.117A>C (p.Ala39=)
n.211A>C
c.114A>C (p.Ala38=)
c.54A>C (p.Ala18=)
c.48A>C (p.Ala16=)
c.204A>C (p.Ala68=)
14g.68925661T=CA2144526313ACTN1c.-79A= (n.-79A=)
n.405A=
c.117A= (p.Ala39=)
n.211A=
c.114A= (p.Ala38=)
c.54A= (p.Ala18=)
c.48A= (p.Ala16=)
c.204A= (p.Ala68=)
14g.68925662G>ACA390178101ACTN1c.-80C>T (n.-80C>T)
n.404C>T
c.116C>T (p.Ala39Val)
n.210C>T
c.113C>T (p.Ala38Val)
c.53C>T (p.Ala18Val)
c.47C>T (p.Ala16Val)
c.203C>T (p.Ala68Val)
14g.68925662G>CCA390178102ACTN1c.-80C>G (n.-80C>G)
n.404C>G
c.116C>G (p.Ala39Gly)
n.210C>G
c.113C>G (p.Ala38Gly)
c.53C>G (p.Ala18Gly)
c.47C>G (p.Ala16Gly)
c.203C>G (p.Ala68Gly)
14g.68925662G>TCA390178103ACTN1c.-80C>A (n.-80C>A)
n.404C>A
c.116C>A (p.Ala39Glu)
n.210C>A
c.113C>A (p.Ala38Glu)
c.53C>A (p.Ala18Glu)
c.47C>A (p.Ala16Glu)
c.203C>A (p.Ala68Glu)
14g.68925663C>ACA390178106ACTN1c.-81G>T (n.-81G>T)
n.403G>T
c.115G>T (p.Ala39Ser)
n.209G>T
c.112G>T (p.Ala38Ser)
c.52G>T (p.Ala18Ser)
c.46G>T (p.Ala16Ser)
c.202G>T (p.Ala68Ser)
14g.68925663C>GCA390178105ACTN1c.-81G>C (n.-81G>C)
n.403G>C
c.115G>C (p.Ala39Pro)
n.209G>C
c.112G>C (p.Ala38Pro)
c.52G>C (p.Ala18Pro)
c.46G>C (p.Ala16Pro)
c.202G>C (p.Ala68Pro)
14g.68925663C>TCA390178104ACTN1c.-81G>A (n.-81G>A)
n.403G>A
c.115G>A (p.Ala39Thr)
n.209G>A
c.112G>A (p.Ala38Thr)
c.52G>A (p.Ala18Thr)
c.46G>A (p.Ala16Thr)
c.202G>A (p.Ala68Thr)
14g.68925664C>ACA486985319ACTN1c.-82G>T (n.-82G>T)
n.402G>T
c.114G>T (p.Thr38=)
n.208G>T
c.111G>T (p.Thr37=)
c.51G>T (p.Thr17=)
c.45G>T (p.Thr15=)
c.201G>T (p.Thr67=)
 gnomAD v4
14g.68925664C=CA2144526314ACTN1c.-82G= (n.-82G=)
n.402G=
c.114G= (p.Thr38=)
n.208G=
c.111G= (p.Thr37=)
c.51G= (p.Thr17=)
c.45G= (p.Thr15=)
c.201G= (p.Thr67=)
14g.68925664C>GCA486985321ACTN1c.-82G>C (n.-82G>C)
n.402G>C
c.114G>C (p.Thr38=)
n.208G>C
c.111G>C (p.Thr37=)
c.51G>C (p.Thr17=)
c.45G>C (p.Thr15=)
c.201G>C (p.Thr67=)
14g.68925664C>TCA262874423ACTN1c.-82G>A (n.-82G>A)
n.402G>A
c.114G>A (p.Thr38=)
n.208G>A
c.111G>A (p.Thr37=)
c.51G>A (p.Thr17=)
c.45G>A (p.Thr15=)
c.201G>A (p.Thr67=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.68925665G>ACA7242802ACTN1c.-83C>T (n.-83C>T)
n.401C>T
c.113C>T (p.Thr38Met)
n.207C>T
c.110C>T (p.Thr37Met)
c.50C>T (p.Thr17Met)
c.44C>T (p.Thr15Met)
c.200C>T (p.Thr67Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.68925665G>CCA390178107ACTN1c.-83C>G (n.-83C>G)
n.401C>G
c.113C>G (p.Thr38Arg)
n.207C>G
c.110C>G (p.Thr37Arg)
c.50C>G (p.Thr17Arg)
c.44C>G (p.Thr15Arg)
c.200C>G (p.Thr67Arg)
 dbSNP gnomAD v4

Number of alleles fetched