| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.68925641C>A | CA390178054 | ACTN1 | c.-59G>T (n.-59G>T) n.425G>T c.137G>T (p.Arg46Leu) n.231G>T c.134G>T (p.Arg45Leu) c.74G>T (p.Arg25Leu) c.68G>T (p.Arg23Leu) c.224G>T (p.Arg75Leu) | |
| 14 | g.68925641C= | CA2144526310 | ACTN1 | c.-59G= (n.-59G=) n.425G= c.137G= (p.Arg46=) n.231G= c.134G= (p.Arg45=) c.74G= (p.Arg25=) c.68G= (p.Arg23=) c.224G= (p.Arg75=) | |
| 14 | g.68925641C>G | CA390178055 | ACTN1 | c.-59G>C (n.-59G>C) n.425G>C c.137G>C (p.Arg46Pro) n.231G>C c.134G>C (p.Arg45Pro) c.74G>C (p.Arg25Pro) c.68G>C (p.Arg23Pro) c.224G>C (p.Arg75Pro) | |
| 14 | g.68925641C>T | CA130967 | ACTN1 | c.-59G>A (n.-59G>A) n.425G>A c.137G>A (p.Arg46Gln) n.231G>A c.134G>A (p.Arg45Gln) c.74G>A (p.Arg25Gln) c.68G>A (p.Arg23Gln) c.224G>A (p.Arg75Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 14 | g.68925642G>A | CA7242798 | ACTN1 | c.-60C>T (n.-60C>T) n.424C>T c.136C>T (p.Arg46Trp) n.230C>T c.133C>T (p.Arg45Trp) c.73C>T (p.Arg25Trp) c.67C>T (p.Arg23Trp) c.223C>T (p.Arg75Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.68925642G>C | CA390178056 | ACTN1 | c.-60C>G (n.-60C>G) n.424C>G c.136C>G (p.Arg46Gly) n.230C>G c.133C>G (p.Arg45Gly) c.73C>G (p.Arg25Gly) c.67C>G (p.Arg23Gly) c.223C>G (p.Arg75Gly) | |
| 14 | g.68925642G= | CA2144526311 | ACTN1 | c.-60C= (n.-60C=) n.424C= c.136C= (p.Arg46=) n.230C= c.133C= (p.Arg45=) c.73C= (p.Arg25=) c.67C= (p.Arg23=) c.223C= (p.Arg75=) | |
| 14 | g.68925642G>T | CA486985286 | ACTN1 | c.-60C>A (n.-60C>A) n.424C>A c.136C>A (p.Arg46=) n.230C>A c.133C>A (p.Arg45=) c.73C>A (p.Arg25=) c.67C>A (p.Arg23=) c.223C>A (p.Arg75=) | gnomAD v4 |
| 14 | g.68925643G>A | CA486985287 | ACTN1 | c.-61C>T (n.-61C>T) n.423C>T c.135C>T (p.Leu45=) n.229C>T c.132C>T (p.Leu44=) c.72C>T (p.Leu24=) c.66C>T (p.Leu22=) c.222C>T (p.Leu74=) | gnomAD v4 |
| 14 | g.68925643G>C | CA486985288 | ACTN1 | c.-61C>G (n.-61C>G) n.423C>G c.135C>G (p.Leu45=) n.229C>G c.132C>G (p.Leu44=) c.72C>G (p.Leu24=) c.66C>G (p.Leu22=) c.222C>G (p.Leu74=) | |
| 14 | g.68925643G>T | CA486985290 | ACTN1 | c.-61C>A (n.-61C>A) n.423C>A c.135C>A (p.Leu45=) n.229C>A c.132C>A (p.Leu44=) c.72C>A (p.Leu24=) c.66C>A (p.Leu22=) c.222C>A (p.Leu74=) | |
| 14 | g.68925644A>C | CA390178057 | ACTN1 | c.-62T>G (n.-62T>G) n.422T>G c.134T>G (p.Leu45Arg) n.228T>G c.131T>G (p.Leu44Arg) c.71T>G (p.Leu24Arg) c.65T>G (p.Leu22Arg) c.221T>G (p.Leu74Arg) | |
| 14 | g.68925644A>G | CA390178058 | ACTN1 | c.-62T>C (n.-62T>C) n.422T>C c.134T>C (p.Leu45Pro) n.228T>C c.131T>C (p.Leu44Pro) c.71T>C (p.Leu24Pro) c.65T>C (p.Leu22Pro) c.221T>C (p.Leu74Pro) | |
| 14 | g.68925644A>T | CA390178059 | ACTN1 | c.-62T>A (n.-62T>A) n.422T>A c.134T>A (p.Leu45His) n.228T>A c.131T>A (p.Leu44His) c.71T>A (p.Leu24His) c.65T>A (p.Leu22His) c.221T>A (p.Leu74His) | |
| 14 | g.68925645G>A | CA390178062 | ACTN1 | c.-63C>T (n.-63C>T) n.421C>T c.133C>T (p.Leu45Phe) n.227C>T c.130C>T (p.Leu44Phe) c.70C>T (p.Leu24Phe) c.64C>T (p.Leu22Phe) c.220C>T (p.Leu74Phe) | |
| 14 | g.68925645G>C | CA390178060 | ACTN1 | c.-63C>G (n.-63C>G) n.421C>G c.133C>G (p.Leu45Val) n.227C>G c.130C>G (p.Leu44Val) c.70C>G (p.Leu24Val) c.64C>G (p.Leu22Val) c.220C>G (p.Leu74Val) | |
| 14 | g.68925645G>T | CA390178061 | ACTN1 | c.-63C>A (n.-63C>A) n.421C>A c.133C>A (p.Leu45Ile) n.227C>A c.130C>A (p.Leu44Ile) c.70C>A (p.Leu24Ile) c.64C>A (p.Leu22Ile) c.220C>A (p.Leu74Ile) | |
| 14 | g.68925646G>A | CA486985291 | ACTN1 | c.-64C>T (n.-64C>T) n.420C>T c.132C>T (p.His44=) n.226C>T c.129C>T (p.His43=) c.69C>T (p.His23=) c.63C>T (p.His21=) c.219C>T (p.His73=) | |
| 14 | g.68925646G>C | CA390178063 | ACTN1 | c.-64C>G (n.-64C>G) n.420C>G c.132C>G (p.His44Gln) n.226C>G c.129C>G (p.His43Gln) c.69C>G (p.His23Gln) c.63C>G (p.His21Gln) c.219C>G (p.His73Gln) | |
| 14 | g.68925646G>T | CA390178064 | ACTN1 | c.-64C>A (n.-64C>A) n.420C>A c.132C>A (p.His44Gln) n.226C>A c.129C>A (p.His43Gln) c.69C>A (p.His23Gln) c.63C>A (p.His21Gln) c.219C>A (p.His73Gln) | |
| 14 | g.68925647T>A | CA390178065 | ACTN1 | c.-65A>T (n.-65A>T) n.419A>T c.131A>T (p.His44Leu) n.225A>T c.128A>T (p.His43Leu) c.68A>T (p.His23Leu) c.62A>T (p.His21Leu) c.218A>T (p.His73Leu) | |
| 14 | g.68925647T>C | CA390178066 | ACTN1 | c.-65A>G (n.-65A>G) n.419A>G c.131A>G (p.His44Arg) n.225A>G c.128A>G (p.His43Arg) c.68A>G (p.His23Arg) c.62A>G (p.His21Arg) c.218A>G (p.His73Arg) | gnomAD v4 |
| 14 | g.68925647T>G | CA390178067 | ACTN1 | c.-65A>C (n.-65A>C) n.419A>C c.131A>C (p.His44Pro) n.225A>C c.128A>C (p.His43Pro) c.68A>C (p.His23Pro) c.62A>C (p.His21Pro) c.218A>C (p.His73Pro) | |
| 14 | g.68925648G>A | CA390178068 | ACTN1 | c.-66C>T (n.-66C>T) n.418C>T c.130C>T (p.His44Tyr) n.224C>T c.127C>T (p.His43Tyr) c.67C>T (p.His23Tyr) c.61C>T (p.His21Tyr) c.217C>T (p.His73Tyr) | gnomAD v4 |
| 14 | g.68925648G>C | CA390178070 | ACTN1 | c.-66C>G (n.-66C>G) n.418C>G c.130C>G (p.His44Asp) n.224C>G c.127C>G (p.His43Asp) c.67C>G (p.His23Asp) c.61C>G (p.His21Asp) c.217C>G (p.His73Asp) | |
| 14 | g.68925648G>T | CA390178069 | ACTN1 | c.-66C>A (n.-66C>A) n.418C>A c.130C>A (p.His44Asn) n.224C>A c.127C>A (p.His43Asn) c.67C>A (p.His23Asn) c.61C>A (p.His21Asn) c.217C>A (p.His73Asn) | |
| 14 | g.68925649G>A | CA486985293 | ACTN1 | c.-67C>T (n.-67C>T) n.417C>T c.129C>T (p.Ser43=) n.223C>T c.126C>T (p.Ser42=) c.66C>T (p.Ser22=) c.60C>T (p.Ser20=) c.216C>T (p.Ser72=) | |
| 14 | g.68925649G>C | CA486985294 | ACTN1 | c.-67C>G (n.-67C>G) n.417C>G c.129C>G (p.Ser43=) n.223C>G c.126C>G (p.Ser42=) c.66C>G (p.Ser22=) c.60C>G (p.Ser20=) c.216C>G (p.Ser72=) | |
| 14 | g.68925649G>T | CA486985295 | ACTN1 | c.-67C>A (n.-67C>A) n.417C>A c.129C>A (p.Ser43=) n.223C>A c.126C>A (p.Ser42=) c.66C>A (p.Ser22=) c.60C>A (p.Ser20=) c.216C>A (p.Ser72=) | |
| 14 | g.68925650G>A | CA390178071 | ACTN1 | c.-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) | |
| 14 | g.68925650G>C | CA390178073 | ACTN1 | c.-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) | |
| 14 | g.68925650G>T | CA390178072 | ACTN1 | c.-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) | |
| 14 | g.68925651A= | CA2144526312 | ACTN1 | c.-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=) | |
| 14 | g.68925651A>C | CA7242799 | ACTN1 | c.-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 |
| 14 | g.68925651A>G | CA390178074 | ACTN1 | c.-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) | |
| 14 | g.68925651A>T | CA390178075 | ACTN1 | c.-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 |
| 14 | g.68925652G>A | CA486985297 | ACTN1 | c.-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 |
| 14 | g.68925652G>C | CA390178076 | ACTN1 | c.-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) | |
| 14 | g.68925652G>T | CA390178077 | ACTN1 | c.-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) | |
| 14 | g.68925653T>A | CA390178078 | ACTN1 | c.-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) | |
| 14 | g.68925653T>C | CA390178079 | ACTN1 | c.-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) | |
| 14 | g.68925653T>G | CA390178080 | ACTN1 | c.-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) | |
| 14 | g.68925654T>A | CA390178081 | ACTN1 | c.-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) | |
| 14 | g.68925654T>C | CA390178082 | ACTN1 | c.-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) | |
| 14 | g.68925654T>G | CA390178083 | ACTN1 | c.-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) | |
| 14 | g.68925655A>C | CA390178084 | ACTN1 | c.-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) | |
| 14 | g.68925655A>G | CA486985300 | ACTN1 | c.-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 |
| 14 | g.68925655A>T | CA390178085 | ACTN1 | c.-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) | |
| 14 | g.68925656C>A | CA390178086 | ACTN1 | c.-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) | |
| 14 | g.68925656C>G | CA390178088 | ACTN1 | c.-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) |