Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432642T>A | CA345149590 | ACTA1 | c.368A>T (p.Gln123Leu) c.233A>T (p.Gln78Leu) | |
1 | g.229432642T>C | CA345149592 | ACTA1 | c.368A>G (p.Gln123Arg) c.233A>G (p.Gln78Arg) | |
1 | g.229432642T>G | CA345149593 | ACTA1 | c.368A>C (p.Gln123Pro) c.233A>C (p.Gln78Pro) | |
1 | g.229432643G>A | CA345149597 | ACTA1 | c.367C>T (p.Gln123Ter) c.232C>T (p.Gln78Ter) | COSMIC |
1 | g.229432643G>C | CA345149599 | ACTA1 | c.367C>G (p.Gln123Glu) c.232C>G (p.Gln78Glu) | |
1 | g.229432643G>T | CA345149601 | ACTA1 | c.367C>A (p.Gln123Lys) c.232C>A (p.Gln78Lys) | COSMIC |
1 | g.229432644G>A | CA38816324 | ACTA1 | c.366C>T (p.Thr122=) c.231C>T (p.Thr77=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432644G>C | CA423755157 | ACTA1 | c.366C>G (p.Thr122=) c.231C>G (p.Thr77=) | |
1 | g.229432644G= | CA1143406015 | ACTA1 | c.366C= (p.Thr122=) c.231C= (p.Thr77=) | |
1 | g.229432644G>T | CA1442890 | ACTA1 | c.366C>A (p.Thr122=) c.231C>A (p.Thr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432645G>A | CA345149619 | ACTA1 | c.365C>T (p.Thr122Ile) c.230C>T (p.Thr77Ile) | |
1 | g.229432645G>C | CA345149614 | ACTA1 | c.365C>G (p.Thr122Ser) c.230C>G (p.Thr77Ser) | |
1 | g.229432645G>T | CA345149611 | ACTA1 | c.365C>A (p.Thr122Asn) c.230C>A (p.Thr77Asn) | |
1 | g.229432646T>A | CA345149621 | ACTA1 | c.364A>T (p.Thr122Ser) c.229A>T (p.Thr77Ser) | |
1 | g.229432646T>C | CA345149623 | ACTA1 | c.364A>G (p.Thr122Ala) c.229A>G (p.Thr77Ala) | |
1 | g.229432646T>G | CA345149625 | ACTA1 | c.364A>C (p.Thr122Pro) c.229A>C (p.Thr77Pro) | ClinVar |
1 | g.229432647C>A | CA345149628 | ACTA1 | c.363G>T (p.Met121Ile) c.228G>T (p.Met76Ile) | |
1 | g.229432647C>G | CA345149632 | ACTA1 | c.363G>C (p.Met121Ile) c.228G>C (p.Met76Ile) | |
1 | g.229432647C>T | CA345149634 | ACTA1 | c.363G>A (p.Met121Ile) c.228G>A (p.Met76Ile) | gnomAD v4 |
1 | g.229432648A>C | CA345149637 | ACTA1 | c.362T>G (p.Met121Arg) c.227T>G (p.Met76Arg) | |
1 | g.229432648A>G | CA345149640 | ACTA1 | c.362T>C (p.Met121Thr) c.227T>C (p.Met76Thr) | |
1 | g.229432648A>T | CA345149644 | ACTA1 | c.362T>A (p.Met121Lys) c.227T>A (p.Met76Lys) | gnomAD v4 |
1 | g.229432649T>A | CA345149647 | ACTA1 | c.361A>T (p.Met121Leu) c.226A>T (p.Met76Leu) | |
1 | g.229432649T>C | CA345149649 | ACTA1 | c.361A>G (p.Met121Val) c.226A>G (p.Met76Val) | |
1 | g.229432649T>G | CA345149651 | ACTA1 | c.361A>C (p.Met121Leu) c.226A>C (p.Met76Leu) | |
1 | g.229432650C>A | CA345149656 | ACTA1 | c.360G>T (p.Lys120Asn) c.225G>T (p.Lys75Asn) | |
1 | g.229432650C>G | CA345149654 | ACTA1 | c.360G>C (p.Lys120Asn) c.225G>C (p.Lys75Asn) | |
1 | g.229432650C>T | CA423755159 | ACTA1 | c.360G>A (p.Lys120=) c.225G>A (p.Lys75=) | |
1 | g.229432651T>A | CA345149658 | ACTA1 | c.359A>T (p.Lys120Met) c.224A>T (p.Lys75Met) | ClinVar dbSNP |
1 | g.229432651T>C | CA345149662 | ACTA1 | c.359A>G (p.Lys120Arg) c.224A>G (p.Lys75Arg) | |
1 | g.229432651T>G | CA345149671 | ACTA1 | c.359A>C (p.Lys120Thr) c.224A>C (p.Lys75Thr) | |
1 | g.229432652T>A | CA345149675 | ACTA1 | c.358A>T (p.Lys120Ter) c.223A>T (p.Lys75Ter) | |
1 | g.229432652T>C | CA345149678 | ACTA1 | c.358A>G (p.Lys120Glu) c.223A>G (p.Lys75Glu) | |
1 | g.229432652T>G | CA345149682 | ACTA1 | c.358A>C (p.Lys120Gln) c.223A>C (p.Lys75Gln) | ClinVar |
1 | g.229432653C>A | CA345149693 | ACTA1 | c.357G>T (p.Glu119Asp) c.222G>T (p.Glu74Asp) | |
1 | g.229432653C= | CA1226125905 | ACTA1 | c.357G= (p.Glu119=) c.222G= (p.Glu74=) | |
1 | g.229432653C>G | CA345149688 | ACTA1 | c.357G>C (p.Glu119Asp) c.222G>C (p.Glu74Asp) | |
1 | g.229432653C>T | CA423755161 | ACTA1 | c.357G>A (p.Glu119=) c.222G>A (p.Glu74=) | dbSNP |
1 | g.229432654T>A | CA345149697 | ACTA1 | c.356A>T (p.Glu119Val) c.221A>T (p.Glu74Val) | |
1 | g.229432654T>C | CA345149698 | ACTA1 | c.356A>G (p.Glu119Gly) c.221A>G (p.Glu74Gly) | |
1 | g.229432654T>G | CA345149699 | ACTA1 | c.356A>C (p.Glu119Ala) c.221A>C (p.Glu74Ala) | |
1 | g.229432655C>A | CA345149700 | ACTA1 | c.355G>T (p.Glu119Ter) c.220G>T (p.Glu74Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432655C= | CA1226125906 | ACTA1 | c.355G= (p.Glu119=) c.220G= (p.Glu74=) | |
1 | g.229432655C>G | CA345149702 | ACTA1 | c.355G>C (p.Glu119Gln) c.220G>C (p.Glu74Gln) | |
1 | g.229432655C>T | CA345149705 | ACTA1 | c.355G>A (p.Glu119Lys) c.220G>A (p.Glu74Lys) | |
1 | g.229432656G>A | CA423755166 | ACTA1 | c.354C>T (p.Arg118=) c.219C>T (p.Arg73=) | dbSNP |
1 | g.229432656G>C | CA423755167 | ACTA1 | c.354C>G (p.Arg118=) c.219C>G (p.Arg73=) | |
1 | g.229432656G= | CA1226125907 | ACTA1 | c.354C= (p.Arg118=) c.219C= (p.Arg73=) | |
1 | g.229432656G>T | CA423755168 | ACTA1 | c.354C>A (p.Arg118=) c.219C>A (p.Arg73=) | dbSNP gnomAD v4 |
1 | g.229432657C>A | CA345149708 | ACTA1 | c.353G>T (p.Arg118Leu) c.218G>T (p.Arg73Leu) | |
1 | g.229432657C>G | CA345149712 | ACTA1 | c.353G>C (p.Arg118Pro) c.218G>C (p.Arg73Pro) | |
1 | g.229432657C>T | CA345149709 | ACTA1 | c.353G>A (p.Arg118His) c.218G>A (p.Arg73His) | COSMIC |
1 | g.229432658G>A | CA345149715 | ACTA1 | c.352C>T (p.Arg118Cys) c.217C>T (p.Arg73Cys) | |
1 | g.229432658G>C | CA345149718 | ACTA1 | c.352C>G (p.Arg118Gly) c.217C>G (p.Arg73Gly) | |
1 | g.229432658G= | CA1226125908 | ACTA1 | c.352C= (p.Arg118=) c.217C= (p.Arg73=) | |
1 | g.229432658G>T | CA345149721 | ACTA1 | c.352C>A (p.Arg118Ser) c.217C>A (p.Arg73Ser) | dbSNP |
1 | g.229432659G>A | CA1442891 | ACTA1 | c.351C>T (p.Asn117=) c.216C>T (p.Asn72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432659G>C | CA345149727 | ACTA1 | c.351C>G (p.Asn117Lys) c.216C>G (p.Asn72Lys) | |
1 | g.229432659G= | CA1226125910 | ACTA1 | c.351C= (p.Asn117=) c.216C= (p.Asn72=) | |
1 | g.229432659G>T | CA345149730 | ACTA1 | c.351C>A (p.Asn117Lys) c.216C>A (p.Asn72Lys) | |
1 | g.229432659_229432660delinsGT | CA1226125909 | ACTA1 | c.350_351delinsAC (p.Asn117=) c.215_216delinsAC (p.Asn72=) | |
1 | g.229432660T>A | CA345149731 | ACTA1 | c.350A>T (p.Asn117Ile) c.215A>T (p.Asn72Ile) | |
1 | g.229432660T>C | CA258132 | ACTA1 | c.350A>G (p.Asn117Ser) c.215A>G (p.Asn72Ser) | ClinVar dbSNP |
1 | g.229432660T>G | CA345149734 | ACTA1 | c.350A>C (p.Asn117Thr) c.215A>C (p.Asn72Thr) | |
1 | g.229432660T= | CA1141581379 | ACTA1 | c.350A= (p.Asn117=) c.215A= (p.Asn72=) | |
1 | g.229432661del | CA1226125911 | ACTA1 | c.350del (p.Asn117ThrfsTer5) c.215del (p.Asn72ThrfsTer5) | ClinVar dbSNP |
1 | g.229432661T>A | CA345149736 | ACTA1 | c.349A>T (p.Asn117Tyr) c.214A>T (p.Asn72Tyr) | ClinVar |
1 | g.229432661T>C | CA345149738 | ACTA1 | c.349A>G (p.Asn117Asp) c.214A>G (p.Asn72Asp) | |
1 | g.229432661T>G | CA345149741 | ACTA1 | c.349A>C (p.Asn117His) c.214A>C (p.Asn72His) | |
1 | g.229432662G>A | CA38816356 | ACTA1 | c.348C>T (p.Ala116=) c.213C>T (p.Ala71=) | dbSNP |
1 | g.229432662G>C | CA423755174 | ACTA1 | c.348C>G (p.Ala116=) c.213C>G (p.Ala71=) | |
1 | g.229432662G= | CA1226125912 | ACTA1 | c.348C= (p.Ala116=) c.213C= (p.Ala71=) | |
1 | g.229432662G>T | CA423755175 | ACTA1 | c.348C>A (p.Ala116=) c.213C>A (p.Ala71=) | |
1 | g.229432667_229432684del | CA2739273924 | ACTA1 | c.331_348del (p.Pro111_Ala116del) c.196_213del (p.Pro66_Ala71del) | ClinVar |
1 | g.229432663G>A | CA345149749 | ACTA1 | c.347C>T (p.Ala116Val) c.212C>T (p.Ala71Val) | ClinVar dbSNP |
1 | g.229432663G>C | CA345149746 | ACTA1 | c.347C>G (p.Ala116Gly) c.212C>G (p.Ala71Gly) | |
1 | g.229432663G= | CA1226125913 | ACTA1 | c.347C= (p.Ala116=) c.212C= (p.Ala71=) | |
1 | g.229432663G>T | CA345149751 | ACTA1 | c.347C>A (p.Ala116Asp) c.212C>A (p.Ala71Asp) | |
1 | g.229432664C>A | CA345149752 | ACTA1 | c.346G>T (p.Ala116Ser) c.211G>T (p.Ala71Ser) | ClinVar dbSNP |
1 | g.229432664C= | CA1226125914 | ACTA1 | c.346G= (p.Ala116=) c.211G= (p.Ala71=) | |
1 | g.229432664C>G | CA345149756 | ACTA1 | c.346G>C (p.Ala116Pro) c.211G>C (p.Ala71Pro) | |
1 | g.229432664C>T | CA345149754 | ACTA1 | c.346G>A (p.Ala116Thr) c.211G>A (p.Ala71Thr) | ClinVar dbSNP |
1 | g.229432665C>A | CA345149759 | ACTA1 | c.345G>T (p.Lys115Asn) c.210G>T (p.Lys70Asn) | |
1 | g.229432665C= | CA1226125915 | ACTA1 | c.345G= (p.Lys115=) c.210G= (p.Lys70=) | |
1 | g.229432665C>G | CA345149762 | ACTA1 | c.345G>C (p.Lys115Asn) c.210G>C (p.Lys70Asn) | |
1 | g.229432665C>T | CA423755178 | ACTA1 | c.345G>A (p.Lys115=) c.210G>A (p.Lys70=) | dbSNP gnomAD v4 |
1 | g.229432666T>A | CA345149767 | ACTA1 | c.344A>T (p.Lys115Met) c.209A>T (p.Lys70Met) | |
1 | g.229432666T>C | CA345149770 | ACTA1 | c.344A>G (p.Lys115Arg) c.209A>G (p.Lys70Arg) | |
1 | g.229432666T>G | CA345149772 | ACTA1 | c.344A>C (p.Lys115Thr) c.209A>C (p.Lys70Thr) | |
1 | g.229432667T>A | CA345149775 | ACTA1 | c.343A>T (p.Lys115Ter) c.208A>T (p.Lys70Ter) | |
1 | g.229432667T>C | CA345149777 | ACTA1 | c.343A>G (p.Lys115Glu) c.208A>G (p.Lys70Glu) | |
1 | g.229432667T>G | CA345149780 | ACTA1 | c.343A>C (p.Lys115Gln) c.208A>C (p.Lys70Gln) | |
1 | g.229432668G>A | CA423755181 | ACTA1 | c.342C>T (p.Pro114=) c.207C>T (p.Pro69=) | dbSNP |
1 | g.229432668G>C | CA423755183 | ACTA1 | c.342C>G (p.Pro114=) c.207C>G (p.Pro69=) | |
1 | g.229432668G= | CA1226125916 | ACTA1 | c.342C= (p.Pro114=) c.207C= (p.Pro69=) | |
1 | g.229432668G>T | CA423755185 | ACTA1 | c.342C>A (p.Pro114=) c.207C>A (p.Pro69=) | |
1 | g.229432669G>A | CA10575965 | ACTA1 | c.341C>T (p.Pro114Leu) c.206C>T (p.Pro69Leu) | ClinVar dbSNP COSMIC |
1 | g.229432669G>C | CA345149784 | ACTA1 | c.341C>G (p.Pro114Arg) c.206C>G (p.Pro69Arg) | |
1 | g.229432669G= | CA1226125917 | ACTA1 | c.341C= (p.Pro114=) c.206C= (p.Pro69=) | |
1 | g.229432669G>T | CA345149788 | ACTA1 | c.341C>A (p.Pro114His) c.206C>A (p.Pro69His) | |
1 | g.229432670G>A | CA345149791 | ACTA1 | c.340C>T (p.Pro114Ser) c.205C>T (p.Pro69Ser) | |
1 | g.229432670G>C | CA345149793 | ACTA1 | c.340C>G (p.Pro114Ala) c.205C>G (p.Pro69Ala) | |
1 | g.229432670G>T | CA345149795 | ACTA1 | c.340C>A (p.Pro114Thr) c.205C>A (p.Pro69Thr) | |
1 | g.229432671A= | CA1226125918 | ACTA1 | c.339T= (p.Asn113=) c.204T= (p.Asn68=) | |
1 | g.229432671A>C | CA345149797 | ACTA1 | c.339T>G (p.Asn113Lys) c.204T>G (p.Asn68Lys) | |
1 | g.229432671A>G | CA423755188 | ACTA1 | c.339T>C (p.Asn113=) c.204T>C (p.Asn68=) | dbSNP |
1 | g.229432671A>T | CA345149799 | ACTA1 | c.339T>A (p.Asn113Lys) c.204T>A (p.Asn68Lys) | |
1 | g.229432672T>A | CA345149804 | ACTA1 | c.338A>T (p.Asn113Ile) c.203A>T (p.Asn68Ile) | |
1 | g.229432672T>C | CA345149805 | ACTA1 | c.338A>G (p.Asn113Ser) c.203A>G (p.Asn68Ser) | ClinVar |
1 | g.229432672T>G | CA345149806 | ACTA1 | c.338A>C (p.Asn113Thr) c.203A>C (p.Asn68Thr) | |
1 | g.229432673dup | CA1442892 | ACTA1 | c.338dup (p.Asn113LysfsTer15) c.203dup (p.Asn68LysfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432673T>A | CA345149807 | ACTA1 | c.337A>T (p.Asn113Tyr) c.202A>T (p.Asn68Tyr) | |
1 | g.229432673T>C | CA345149808 | ACTA1 | c.337A>G (p.Asn113Asp) c.202A>G (p.Asn68Asp) | |
1 | g.229432673T>G | CA345149809 | ACTA1 | c.337A>C (p.Asn113His) c.202A>C (p.Asn68His) | |
1 | g.229432674G>A | CA423755190 | ACTA1 | c.336C>T (p.Leu112=) c.201C>T (p.Leu67=) | dbSNP |
1 | g.229432674G>C | CA423755191 | ACTA1 | c.336C>G (p.Leu112=) c.201C>G (p.Leu67=) | gnomAD v4 |
1 | g.229432674G= | CA1226125919 | ACTA1 | c.336C= (p.Leu112=) c.201C= (p.Leu67=) | |
1 | g.229432674G>T | CA423755192 | ACTA1 | c.336C>A (p.Leu112=) c.201C>A (p.Leu67=) | |
1 | g.229432675A>C | CA345149810 | ACTA1 | c.335T>G (p.Leu112Arg) c.200T>G (p.Leu67Arg) | |
1 | g.229432675A>G | CA345149811 | ACTA1 | c.335T>C (p.Leu112Pro) c.200T>C (p.Leu67Pro) | |
1 | g.229432675A>T | CA345149812 | ACTA1 | c.335T>A (p.Leu112His) c.200T>A (p.Leu67His) | |
1 | g.229432676G>A | CA38816393 | ACTA1 | c.334C>T (p.Leu112Phe) c.199C>T (p.Leu67Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432676G>C | CA345149815 | ACTA1 | c.334C>G (p.Leu112Val) c.199C>G (p.Leu67Val) | gnomAD v4 |
1 | g.229432676G= | CA1142120498 | ACTA1 | c.334C= (p.Leu112=) c.199C= (p.Leu67=) | |
1 | g.229432676G>T | CA345149813 | ACTA1 | c.334C>A (p.Leu112Ile) c.199C>A (p.Leu67Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432681dup | CA2650926821 | ACTA1 | c.334dup (p.Leu112ProfsTer16) c.199dup (p.Leu67ProfsTer16) | gnomAD v4 |
1 | g.229432681del | CA2574151343 | ACTA1 | c.334del (p.Leu112SerfsTer10) c.199del (p.Leu67SerfsTer10) | |
1 | g.229432677G>A | CA423755193 | ACTA1 | c.333C>T (p.Pro111=) c.198C>T (p.Pro66=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432677G>C | CA423755195 | ACTA1 | c.333C>G (p.Pro111=) c.198C>G (p.Pro66=) | |
1 | g.229432677G= | CA1226125920 | ACTA1 | c.333C= (p.Pro111=) c.198C= (p.Pro66=) | |
1 | g.229432677G>T | CA423755194 | ACTA1 | c.333C>A (p.Pro111=) c.198C>A (p.Pro66=) | |
1 | g.229432678G>A | CA345149817 | ACTA1 | c.332C>T (p.Pro111Leu) c.197C>T (p.Pro66Leu) | |
1 | g.229432678G>C | CA345149818 | ACTA1 | c.332C>G (p.Pro111Arg) c.197C>G (p.Pro66Arg) | |
1 | g.229432678G>T | CA345149820 | ACTA1 | c.332C>A (p.Pro111His) c.197C>A (p.Pro66His) | |
1 | g.229432679G>A | CA345149821 | ACTA1 | c.331C>T (p.Pro111Ser) c.196C>T (p.Pro66Ser) | |
1 | g.229432679G>C | CA345149822 | ACTA1 | c.331C>G (p.Pro111Ala) c.196C>G (p.Pro66Ala) | |
1 | g.229432679G>T | CA345149823 | ACTA1 | c.331C>A (p.Pro111Thr) c.196C>A (p.Pro66Thr) | COSMIC |
1 | g.229432680G>A | CA1442893 | ACTA1 | c.330C>T (p.Ala110=) c.195C>T (p.Ala65=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.229432680G>C | CA423755200 | ACTA1 | c.330C>G (p.Ala110=) c.195C>G (p.Ala65=) | dbSNP |
1 | g.229432680G= | CA1226125921 | ACTA1 | c.330C= (p.Ala110=) c.195C= (p.Ala65=) | |
1 | g.229432680G>T | CA423755199 | ACTA1 | c.330C>A (p.Ala110=) c.195C>A (p.Ala65=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432681G>A | CA38816409 | ACTA1 | c.329C>T (p.Ala110Val) c.194C>T (p.Ala65Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432681G>C | CA345149826 | ACTA1 | c.329C>G (p.Ala110Gly) c.194C>G (p.Ala65Gly) | gnomAD v4 |
1 | g.229432681G= | CA1226125923 | ACTA1 | c.329C= (p.Ala110=) c.194C= (p.Ala65=) | |
1 | g.229432681G>T | CA345149828 | ACTA1 | c.329C>A (p.Ala110Asp) c.194C>A (p.Ala65Asp) | |
1 | g.229432681_229432687delinsACCTCGA | CA16617086 | ACTA1 | c.323_329delinsTCGAGGT (p.Thr108_Ala110delinsIleGluVal) c.188_194delinsTCGAGGT (p.Thr63_Ala65delinsIleGluVal) | ClinVar dbSNP |
1 | g.229432681_229432687delinsGCCTCGG | CA1226125922 | ACTA1 | c.323_329delinsCCGAGGC (p.Thr108=) c.188_194delinsCCGAGGC (p.Thr63=) | |
1 | g.229432682C>A | CA345149830 | ACTA1 | c.328G>T (p.Ala110Ser) c.193G>T (p.Ala65Ser) | |
1 | g.229432682C>G | CA345149836 | ACTA1 | c.328G>C (p.Ala110Pro) c.193G>C (p.Ala65Pro) | |
1 | g.229432682C>T | CA345149839 | ACTA1 | c.328G>A (p.Ala110Thr) c.193G>A (p.Ala65Thr) | |
1 | g.229432683C>A | CA345149845 | ACTA1 | c.327G>T (p.Glu109Asp) c.192G>T (p.Glu64Asp) | |
1 | g.229432683C= | CA1226125924 | ACTA1 | c.327G= (p.Glu109=) c.192G= (p.Glu64=) | |
1 | g.229432683C>G | CA345149846 | ACTA1 | c.327G>C (p.Glu109Asp) c.192G>C (p.Glu64Asp) | ClinVar |
1 | g.229432683C>T | CA423755203 | ACTA1 | c.327G>A (p.Glu109=) c.192G>A (p.Glu64=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432684T>A | CA345149848 | ACTA1 | c.326A>T (p.Glu109Val) c.191A>T (p.Glu64Val) | |
1 | g.229432684T>C | CA345149851 | ACTA1 | c.326A>G (p.Glu109Gly) c.191A>G (p.Glu64Gly) | |
1 | g.229432684T>G | CA345149853 | ACTA1 | c.326A>C (p.Glu109Ala) c.191A>C (p.Glu64Ala) | |
1 | g.229432685C>A | CA345149856 | ACTA1 | c.325G>T (p.Glu109Ter) c.190G>T (p.Glu64Ter) | |
1 | g.229432685C>G | CA345149857 | ACTA1 | c.325G>C (p.Glu109Gln) c.190G>C (p.Glu64Gln) | |
1 | g.229432685C>T | CA345149860 | ACTA1 | c.325G>A (p.Glu109Lys) c.190G>A (p.Glu64Lys) | COSMIC |
1 | g.229432686G>A | CA423755206 | ACTA1 | c.324C>T (p.Thr108=) c.189C>T (p.Thr63=) | dbSNP gnomAD v4 |
1 | g.229432686G>C | CA423755207 | ACTA1 | c.324C>G (p.Thr108=) c.189C>G (p.Thr63=) | dbSNP |
1 | g.229432686G= | CA1140611006 | ACTA1 | c.324C= (p.Thr108=) c.189C= (p.Thr63=) | |
1 | g.229432686G>T | CA1442894 | ACTA1 | c.324C>A (p.Thr108=) c.189C>A (p.Thr63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432687G>A | CA345149866 | ACTA1 | c.323C>T (p.Thr108Ile) c.188C>T (p.Thr63Ile) | ClinVar dbSNP |
1 | g.229432687G>C | CA345149868 | ACTA1 | c.323C>G (p.Thr108Ser) c.188C>G (p.Thr63Ser) | |
1 | g.229432687G= | CA1226125925 | ACTA1 | c.323C= (p.Thr108=) c.188C= (p.Thr63=) | |
1 | g.229432687G>T | CA345149870 | ACTA1 | c.323C>A (p.Thr108Asn) c.188C>A (p.Thr63Asn) | |
1 | g.229432688T>A | CA345149873 | ACTA1 | c.322A>T (p.Thr108Ser) c.187A>T (p.Thr63Ser) | |
1 | g.229432688T>C | CA345149877 | ACTA1 | c.322A>G (p.Thr108Ala) c.187A>G (p.Thr63Ala) | |
1 | g.229432688T>G | CA345149880 | ACTA1 | c.322A>C (p.Thr108Pro) c.187A>C (p.Thr63Pro) | |
1 | g.229432689G>A | CA423755211 | ACTA1 | c.321C>T (p.Leu107=) c.186C>T (p.Leu62=) | |
1 | g.229432689G>C | CA423755212 | ACTA1 | c.321C>G (p.Leu107=) c.186C>G (p.Leu62=) | |
1 | g.229432689G>T | CA423755213 | ACTA1 | c.321C>A (p.Leu107=) c.186C>A (p.Leu62=) | |
1 | g.229432690A>C | CA345149887 | ACTA1 | c.320T>G (p.Leu107Arg) c.185T>G (p.Leu62Arg) | |
1 | g.229432690A>G | CA345149890 | ACTA1 | c.320T>C (p.Leu107Pro) c.185T>C (p.Leu62Pro) | |
1 | g.229432690A>T | CA345149884 | ACTA1 | c.320T>A (p.Leu107His) c.185T>A (p.Leu62His) | |
1 | g.229432691G>A | CA345149893 | ACTA1 | c.319C>T (p.Leu107Phe) c.184C>T (p.Leu62Phe) | COSMIC |
1 | g.229432691G>C | CA345149895 | ACTA1 | c.319C>G (p.Leu107Val) c.184C>G (p.Leu62Val) | |
1 | g.229432691G>T | CA345149899 | ACTA1 | c.319C>A (p.Leu107Ile) c.184C>A (p.Leu62Ile) | |
1 | g.229432692C>A | CA423755214 | ACTA1 | c.318G>T (p.Leu106=) c.183G>T (p.Leu61=) | |
1 | g.229432692C>G | CA423755216 | ACTA1 | c.318G>C (p.Leu106=) c.183G>C (p.Leu61=) | gnomAD v4 |
1 | g.229432692C>T | CA423755215 | ACTA1 | c.318G>A (p.Leu106=) c.183G>A (p.Leu61=) | gnomAD v4 |
1 | g.229432693A>C | CA345149903 | ACTA1 | c.317T>G (p.Leu106Arg) c.182T>G (p.Leu61Arg) | |
1 | g.229432693A>G | CA345149905 | ACTA1 | c.317T>C (p.Leu106Pro) c.182T>C (p.Leu61Pro) | ClinVar |
1 | g.229432693A>T | CA345149908 | ACTA1 | c.317T>A (p.Leu106Gln) c.182T>A (p.Leu61Gln) | |
1 | g.229432694G>A | CA423755217 | ACTA1 | c.316C>T (p.Leu106=) c.181C>T (p.Leu61=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432694G>C | CA345149912 | ACTA1 | c.316C>G (p.Leu106Val) c.181C>G (p.Leu61Val) | |
1 | g.229432694G= | CA1226125926 | ACTA1 | c.316C= (p.Leu106=) c.181C= (p.Leu61=) | |
1 | g.229432694G>T | CA345149910 | ACTA1 | c.316C>A (p.Leu106Met) c.181C>A (p.Leu61Met) | |
1 | g.229432696del | CA423755218 | ACTA1 | c.316del (p.Leu106CysfsTer16) c.181del (p.Leu61CysfsTer16) | |
1 | g.229432695G>A | CA423755219 | ACTA1 | c.315C>T (p.Thr105=) c.180C>T (p.Thr60=) | dbSNP |
1 | g.229432695G>C | CA423755220 | ACTA1 | c.315C>G (p.Thr105=) c.180C>G (p.Thr60=) | |
1 | g.229432695G= | CA1226125927 | ACTA1 | c.315C= (p.Thr105=) c.180C= (p.Thr60=) | |
1 | g.229432695G>T | CA423755221 | ACTA1 | c.315C>A (p.Thr105=) c.180C>A (p.Thr60=) | |
1 | g.229432696G>A | CA1442895 | ACTA1 | c.314C>T (p.Thr105Ile) c.179C>T (p.Thr60Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432696G>C | CA345149921 | ACTA1 | c.314C>G (p.Thr105Ser) c.179C>G (p.Thr60Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432696G= | CA1226125928 | ACTA1 | c.314C= (p.Thr105=) c.179C= (p.Thr60=) | |
1 | g.229432696G>T | CA345149923 | ACTA1 | c.314C>A (p.Thr105Asn) c.179C>A (p.Thr60Asn) | gnomAD v4 |
1 | g.229432697T>A | CA345149925 | ACTA1 | c.313A>T (p.Thr105Ser) c.178A>T (p.Thr60Ser) | |
1 | g.229432697T>C | CA345149926 | ACTA1 | c.313A>G (p.Thr105Ala) c.178A>G (p.Thr60Ala) | |
1 | g.229432697T>G | CA345149927 | ACTA1 | c.313A>C (p.Thr105Pro) c.178A>C (p.Thr60Pro) | |
1 | g.229432698G>A | CA423755224 | ACTA1 | c.312C>T (p.Pro104=) c.177C>T (p.Pro59=) | dbSNP gnomAD v2 |
1 | g.229432698G>C | CA423755223 | ACTA1 | c.312C>G (p.Pro104=) c.177C>G (p.Pro59=) | ClinVar dbSNP gnomAD v4 |
1 | g.229432698G= | CA1226125929 | ACTA1 | c.312C= (p.Pro104=) c.177C= (p.Pro59=) | |
1 | g.229432698G>T | CA423755222 | ACTA1 | c.312C>A (p.Pro104=) c.177C>A (p.Pro59=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432699G>A | CA345149930 | ACTA1 | c.311C>T (p.Pro104Leu) c.176C>T (p.Pro59Leu) | dbSNP gnomAD v4 |
1 | g.229432699G>C | CA1442896 | ACTA1 | c.311C>G (p.Pro104Arg) c.176C>G (p.Pro59Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432699G= | CA1226125930 | ACTA1 | c.311C= (p.Pro104=) c.176C= (p.Pro59=) | |
1 | g.229432699G>T | CA345149929 | ACTA1 | c.311C>A (p.Pro104His) c.176C>A (p.Pro59His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432700G>A | CA345149932 | ACTA1 | c.310C>T (p.Pro104Ser) c.175C>T (p.Pro59Ser) | |
1 | g.229432700G>C | CA345149947 | ACTA1 | c.310C>G (p.Pro104Ala) c.175C>G (p.Pro59Ala) | |
1 | g.229432700G>T | CA345149951 | ACTA1 | c.310C>A (p.Pro104Thr) c.175C>A (p.Pro59Thr) | |
1 | g.229432701G>A | CA38816438 | ACTA1 | c.309C>T (p.His103=) c.174C>T (p.His58=) | dbSNP |
1 | g.229432701G>C | CA345149954 | ACTA1 | c.309C>G (p.His103Gln) c.174C>G (p.His58Gln) | |
1 | g.229432701G= | CA1226125931 | ACTA1 | c.309C= (p.His103=) c.174C= (p.His58=) | |
1 | g.229432701G>T | CA345149956 | ACTA1 | c.309C>A (p.His103Gln) c.174C>A (p.His58Gln) | COSMIC |
1 | g.229432702T>A | CA345149962 | ACTA1 | c.308A>T (p.His103Leu) c.173A>T (p.His58Leu) | gnomAD v4 |
1 | g.229432702T>C | CA345149966 | ACTA1 | c.308A>G (p.His103Arg) c.173A>G (p.His58Arg) | |
1 | g.229432702T>G | CA345149968 | ACTA1 | c.308A>C (p.His103Pro) c.173A>C (p.His58Pro) | |
1 | g.229432703G>A | CA345149971 | ACTA1 | c.307C>T (p.His103Tyr) c.172C>T (p.His58Tyr) | ClinVar |
1 | g.229432703G>C | CA345149972 | ACTA1 | c.307C>G (p.His103Asp) c.172C>G (p.His58Asp) | |
1 | g.229432703G>T | CA345149973 | ACTA1 | c.307C>A (p.His103Asn) c.172C>A (p.His58Asn) | |
1 | g.229432703_229432704delinsGC | CA1226125932 | ACTA1 | c.306_307delinsGC (p.Glu102=) c.171_172delinsGC (p.Glu57=) | |
1 | g.229432704del | CA915942046 | ACTA1 | c.306del (p.Glu102AspfsTer20) c.171del (p.Glu57AspfsTer20) | ClinVar dbSNP |
1 | g.229432704C>A | CA345149974 | ACTA1 | c.306G>T (p.Glu102Asp) c.171G>T (p.Glu57Asp) | COSMIC |
1 | g.229432704C>G | CA345149975 | ACTA1 | c.306G>C (p.Glu102Asp) c.171G>C (p.Glu57Asp) | |
1 | g.229432704C>T | CA423755229 | ACTA1 | c.306G>A (p.Glu102=) c.171G>A (p.Glu57=) | ClinVar gnomAD v4 COSMIC |
1 | g.229432705T>A | CA345149977 | ACTA1 | c.305A>T (p.Glu102Val) c.170A>T (p.Glu57Val) | |
1 | g.229432705T>C | CA345149986 | ACTA1 | c.305A>G (p.Glu102Gly) c.170A>G (p.Glu57Gly) | |
1 | g.229432705T>G | CA345149984 | ACTA1 | c.305A>C (p.Glu102Ala) c.170A>C (p.Glu57Ala) | |
1 | g.229432706C>A | CA345149992 | ACTA1 | c.304G>T (p.Glu102Ter) c.169G>T (p.Glu57Ter) | |
1 | g.229432706C= | CA1226125933 | ACTA1 | c.304G= (p.Glu102=) c.169G= (p.Glu57=) | |
1 | g.229432706C>G | CA345149994 | ACTA1 | c.304G>C (p.Glu102Gln) c.169G>C (p.Glu57Gln) | |
1 | g.229432706C>T | CA16603574 | ACTA1 | c.304G>A (p.Glu102Lys) c.169G>A (p.Glu57Lys) | ClinVar dbSNP |
1 | g.229432707C>A | CA345149998 | ACTA1 | c.303G>T (p.Glu101Asp) c.168G>T (p.Glu56Asp) | |
1 | g.229432707C>G | CA345150000 | ACTA1 | c.303G>C (p.Glu101Asp) c.168G>C (p.Glu56Asp) | |
1 | g.229432707C>T | CA423755305 | ACTA1 | c.303G>A (p.Glu101=) c.168G>A (p.Glu56=) | |
1 | g.229432708T>A | CA345150007 | ACTA1 | c.302A>T (p.Glu101Val) c.167A>T (p.Glu56Val) | |
1 | g.229432708T>C | CA345150005 | ACTA1 | c.302A>G (p.Glu101Gly) c.167A>G (p.Glu56Gly) | |
1 | g.229432708T>G | CA345150003 | ACTA1 | c.302A>C (p.Glu101Ala) c.167A>C (p.Glu56Ala) | |
1 | g.229432709C>A | CA345150009 | ACTA1 | c.301G>T (p.Glu101Ter) c.166G>T (p.Glu56Ter) | dbSNP |
1 | g.229432709C= | CA1226125934 | ACTA1 | c.301G= (p.Glu101=) c.166G= (p.Glu56=) | |
1 | g.229432709C>G | CA345150011 | ACTA1 | c.301G>C (p.Glu101Gln) c.166G>C (p.Glu56Gln) | |
1 | g.229432709C>T | CA345150014 | ACTA1 | c.301G>A (p.Glu101Lys) c.166G>A (p.Glu56Lys) | gnomAD v4 |
1 | g.229432710G>A | CA423755312 | ACTA1 | c.300C>T (p.Pro100=) c.165C>T (p.Pro55=) | ClinVar |
1 | g.229432710G>C | CA423755313 | ACTA1 | c.300C>G (p.Pro100=) c.165C>G (p.Pro55=) | ClinVar dbSNP gnomAD v4 |
1 | g.229432710G= | CA1226125935 | ACTA1 | c.300C= (p.Pro100=) c.165C= (p.Pro55=) | |
1 | g.229432710G>T | CA423755314 | ACTA1 | c.300C>A (p.Pro100=) c.165C>A (p.Pro55=) | |
1 | g.229432711G>A | CA345150022 | ACTA1 | c.299C>T (p.Pro100Leu) c.164C>T (p.Pro55Leu) | |
1 | g.229432711G>C | CA345150033 | ACTA1 | c.299C>G (p.Pro100Arg) c.164C>G (p.Pro55Arg) | |
1 | g.229432711G>T | CA345150036 | ACTA1 | c.299C>A (p.Pro100His) c.164C>A (p.Pro55His) | |
1 | g.229432712G>A | CA1442897 | ACTA1 | c.298C>T (p.Pro100Ser) c.163C>T (p.Pro55Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432712G>C | CA345150043 | ACTA1 | c.298C>G (p.Pro100Ala) c.163C>G (p.Pro55Ala) | |
1 | g.229432712G= | CA1148257598 | ACTA1 | c.298C= (p.Pro100=) c.163C= (p.Pro55=) | |
1 | g.229432712G>T | CA345150040 | ACTA1 | c.298C>A (p.Pro100Thr) c.163C>A (p.Pro55Thr) | |
1 | g.229432713A= | CA1226125936 | ACTA1 | c.297T= (p.Ala99=) c.162T= (p.Ala54=) | |
1 | g.229432713A>C | CA423755318 | ACTA1 | c.297T>G (p.Ala99=) c.162T>G (p.Ala54=) | |
1 | g.229432713A>G | CA38816447 | ACTA1 | c.297T>C (p.Ala99=) c.162T>C (p.Ala54=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432713A>T | CA423755319 | ACTA1 | c.297T>A (p.Ala99=) c.162T>A (p.Ala54=) | |
1 | g.229432714G>A | CA345150050 | ACTA1 | c.296C>T (p.Ala99Val) c.161C>T (p.Ala54Val) | |
1 | g.229432714G>C | CA345150054 | ACTA1 | c.296C>G (p.Ala99Gly) c.161C>G (p.Ala54Gly) | |
1 | g.229432714G>T | CA345150056 | ACTA1 | c.296C>A (p.Ala99Asp) c.161C>A (p.Ala54Asp) | |
1 | g.229432715C>A | CA345150058 | ACTA1 | c.295G>T (p.Ala99Ser) c.160G>T (p.Ala54Ser) | gnomAD v4 |
1 | g.229432715C>G | CA345150060 | ACTA1 | c.295G>C (p.Ala99Pro) c.160G>C (p.Ala54Pro) | |
1 | g.229432715C>T | CA345150062 | ACTA1 | c.295G>A (p.Ala99Thr) c.160G>A (p.Ala54Thr) | |
1 | g.229432716C>A | CA423755323 | ACTA1 | c.294G>T (p.Val98=) c.159G>T (p.Val53=) | |
1 | g.229432716C= | CA1226125937 | ACTA1 | c.294G= (p.Val98=) c.159G= (p.Val53=) | |
1 | g.229432716C>G | CA423755324 | ACTA1 | c.294G>C (p.Val98=) c.159G>C (p.Val53=) | dbSNP |
1 | g.229432716C>T | CA423755325 | ACTA1 | c.294G>A (p.Val98=) c.159G>A (p.Val53=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432717A>C | CA345150063 | ACTA1 | c.293T>G (p.Val98Gly) c.158T>G (p.Val53Gly) | |
1 | g.229432717A>G | CA345150064 | ACTA1 | c.293T>C (p.Val98Ala) c.158T>C (p.Val53Ala) | |
1 | g.229432717A>T | CA345150066 | ACTA1 | c.293T>A (p.Val98Glu) c.158T>A (p.Val53Glu) | |
1 | g.229432718C>A | CA345150075 | ACTA1 | c.292G>T (p.Val98Leu) c.157G>T (p.Val53Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432718C= | CA1226125938 | ACTA1 | c.292G= (p.Val98=) c.157G= (p.Val53=) | |
1 | g.229432718C>G | CA345150072 | ACTA1 | c.292G>C (p.Val98Leu) c.157G>C (p.Val53Leu) | dbSNP |
1 | g.229432718C>T | CA345150069 | ACTA1 | c.292G>A (p.Val98Met) c.157G>A (p.Val53Met) | |
1 | g.229432719G>A | CA423755329 | ACTA1 | c.291C>T (p.Arg97=) c.156C>T (p.Arg52=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432719G>C | CA423755327 | ACTA1 | c.291C>G (p.Arg97=) c.156C>G (p.Arg52=) | |
1 | g.229432719G= | CA1226125939 | ACTA1 | c.291C= (p.Arg97=) c.156C= (p.Arg52=) | |
1 | g.229432719G>T | CA423755334 | ACTA1 | c.291C>A (p.Arg97=) c.156C>A (p.Arg52=) | dbSNP |
1 | g.229432720C>A | CA345150076 | ACTA1 | c.290G>T (p.Arg97Leu) c.155G>T (p.Arg52Leu) | |
1 | g.229432720C>G | CA345150081 | ACTA1 | c.290G>C (p.Arg97Pro) c.155G>C (p.Arg52Pro) | |
1 | g.229432720C>T | CA345150078 | ACTA1 | c.290G>A (p.Arg97His) c.155G>A (p.Arg52His) | |
1 | g.229432721G>A | CA345150082 | ACTA1 | c.289C>T (p.Arg97Cys) c.154C>T (p.Arg52Cys) | COSMIC |
1 | g.229432721G>C | CA345150084 | ACTA1 | c.289C>G (p.Arg97Gly) c.154C>G (p.Arg52Gly) | |
1 | g.229432721G>T | CA345150083 | ACTA1 | c.289C>A (p.Arg97Ser) c.154C>A (p.Arg52Ser) | |
1 | g.229432722A= | CA1146571440 | ACTA1 | c.288T= (p.Leu96=) c.153T= (p.Leu51=) | |
1 | g.229432722A>C | CA423755339 | ACTA1 | c.288T>G (p.Leu96=) c.153T>G (p.Leu51=) | dbSNP |
1 | g.229432722A>G | CA38816457 | ACTA1 | c.288T>C (p.Leu96=) c.153T>C (p.Leu51=) | dbSNP |
1 | g.229432722A>T | CA423755338 | ACTA1 | c.288T>A (p.Leu96=) c.153T>A (p.Leu51=) | |
1 | g.229432723A= | CA1141581380 | ACTA1 | c.287T= (p.Leu96=) c.152T= (p.Leu51=) | |
1 | g.229432723A>C | CA345150085 | ACTA1 | c.287T>G (p.Leu96Arg) c.152T>G (p.Leu51Arg) | |
1 | g.229432723A>G | CA258130 | ACTA1 | c.287T>C (p.Leu96Pro) c.152T>C (p.Leu51Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432723A>T | CA345150086 | ACTA1 | c.287T>A (p.Leu96His) c.152T>A (p.Leu51His) | |
1 | g.229432724G>A | CA345150088 | ACTA1 | c.286C>T (p.Leu96Phe) c.151C>T (p.Leu51Phe) | |
1 | g.229432724G>C | CA345150092 | ACTA1 | c.286C>G (p.Leu96Val) c.151C>G (p.Leu51Val) | ClinVar dbSNP gnomAD v4 |
1 | g.229432724G>T | CA345150094 | ACTA1 | c.286C>A (p.Leu96Ile) c.151C>A (p.Leu51Ile) | |
1 | g.229432724_229432725del | CA2574151344 | ACTA1 | c.285_286del (p.Glu95AspfsTer?) c.150_151del (p.Glu50AspfsTer?) | gnomAD v4 |
1 | g.229432725C>A | CA345150097 | ACTA1 | c.285G>T (p.Glu95Asp) c.150G>T (p.Glu50Asp) | |
1 | g.229432725C= | CA1226125940 | ACTA1 | c.285G= (p.Glu95=) c.150G= (p.Glu50=) | |
1 | g.229432725C>G | CA345150098 | ACTA1 | c.285G>C (p.Glu95Asp) c.150G>C (p.Glu50Asp) | |
1 | g.229432725C>T | CA423755343 | ACTA1 | c.285G>A (p.Glu95=) c.150G>A (p.Glu50=) | dbSNP |
1 | g.229432726T>A | CA345150101 | ACTA1 | c.284A>T (p.Glu95Val) c.149A>T (p.Glu50Val) | |
1 | g.229432726T>C | CA345150104 | ACTA1 | c.284A>G (p.Glu95Gly) c.149A>G (p.Glu50Gly) | ClinVar |
1 | g.229432726T>G | CA345150108 | ACTA1 | c.284A>C (p.Glu95Ala) c.149A>C (p.Glu50Ala) | |
1 | g.229432727C>A | CA345150111 | ACTA1 | c.283G>T (p.Glu95Ter) c.148G>T (p.Glu50Ter) | |
1 | g.229432727C= | CA1226125941 | ACTA1 | c.283G= (p.Glu95=) c.148G= (p.Glu50=) | |
1 | g.229432727C>G | CA345150113 | ACTA1 | c.283G>C (p.Glu95Gln) c.148G>C (p.Glu50Gln) | |
1 | g.229432727C>T | CA345150112 | ACTA1 | c.283G>A (p.Glu95Lys) c.148G>A (p.Glu50Lys) | ClinVar dbSNP |
1 | g.229432728G>A | CA1442898 | ACTA1 | c.282C>T (p.Asn94=) c.147C>T (p.Asn49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.229432728G>C | CA345150114 | ACTA1 | c.282C>G (p.Asn94Lys) c.147C>G (p.Asn49Lys) | |
1 | g.229432728G= | CA1226125942 | ACTA1 | c.282C= (p.Asn94=) c.147C= (p.Asn49=) | |
1 | g.229432728G>T | CA345150117 | ACTA1 | c.282C>A (p.Asn94Lys) c.147C>A (p.Asn49Lys) | ClinVar dbSNP |
1 | g.229432729T>A | CA345150119 | ACTA1 | c.281A>T (p.Asn94Ile) c.146A>T (p.Asn49Ile) | |
1 | g.229432729T>C | CA1442899 | ACTA1 | c.281A>G (p.Asn94Ser) c.146A>G (p.Asn49Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432729T>G | CA345150124 | ACTA1 | c.281A>C (p.Asn94Thr) c.146A>C (p.Asn49Thr) | |
1 | g.229432729T= | CA1226125943 | ACTA1 | c.281A= (p.Asn94=) c.146A= (p.Asn49=) | |
1 | g.229432730T>A | CA345150128 | ACTA1 | c.280A>T (p.Asn94Tyr) c.145A>T (p.Asn49Tyr) | ClinVar |
1 | g.229432730T>C | CA345150129 | ACTA1 | c.280A>G (p.Asn94Asp) c.145A>G (p.Asn49Asp) | |
1 | g.229432730T>G | CA345150130 | ACTA1 | c.280A>C (p.Asn94His) c.145A>C (p.Asn49His) | ClinVar |
1 | g.229432731G>A | CA1442900 | ACTA1 | c.279C>T (p.Tyr93=) c.144C>T (p.Tyr48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432731G>C | CA345150132 | ACTA1 | c.279C>G (p.Tyr93Ter) c.144C>G (p.Tyr48Ter) | |
1 | g.229432731G= | CA1148425537 | ACTA1 | c.279C= (p.Tyr93=) c.144C= (p.Tyr48=) | |
1 | g.229432731G>T | CA345150131 | ACTA1 | c.279C>A (p.Tyr93Ter) c.144C>A (p.Tyr48Ter) | |
1 | g.229432732T>A | CA345150133 | ACTA1 | c.278A>T (p.Tyr93Phe) c.143A>T (p.Tyr48Phe) | |
1 | g.229432732T>C | CA345150135 | ACTA1 | c.278A>G (p.Tyr93Cys) c.143A>G (p.Tyr48Cys) | |
1 | g.229432732T>G | CA345150136 | ACTA1 | c.278A>C (p.Tyr93Ser) c.143A>C (p.Tyr48Ser) | |
1 | g.229432732_229432735delinsTAGA | CA1226125944 | ACTA1 | c.275_278delinsTCTA (p.Phe92=) c.140_143delinsTCTA (p.Phe47=) | |
1 | g.229432733A>C | CA345150139 | ACTA1 | c.277T>G (p.Tyr93Asp) c.142T>G (p.Tyr48Asp) | |
1 | g.229432733A>G | CA345150141 | ACTA1 | c.277T>C (p.Tyr93His) c.142T>C (p.Tyr48His) | |
1 | g.229432733A>T | CA345150142 | ACTA1 | c.277T>A (p.Tyr93Asn) c.142T>A (p.Tyr48Asn) | |
1 | g.229432735_229432737del | CA891843098 | ACTA1 | c.275_277del (p.Phe92del) c.140_142del (p.Phe47del) | ClinVar dbSNP |
1 | g.229432734G>A | CA423755357 | ACTA1 | c.276C>T (p.Phe92=) c.141C>T (p.Phe47=) | |
1 | g.229432734G>C | CA345150143 | ACTA1 | c.276C>G (p.Phe92Leu) c.141C>G (p.Phe47Leu) | |
1 | g.229432734G>T | CA345150146 | ACTA1 | c.276C>A (p.Phe92Leu) c.141C>A (p.Phe47Leu) | |
1 | g.229432735A>C | CA345150148 | ACTA1 | c.275T>G (p.Phe92Cys) c.140T>G (p.Phe47Cys) | |
1 | g.229432735A>G | CA345150151 | ACTA1 | c.275T>C (p.Phe92Ser) c.140T>C (p.Phe47Ser) | |
1 | g.229432735A>T | CA345150153 | ACTA1 | c.275T>A (p.Phe92Tyr) c.140T>A (p.Phe47Tyr) | |
1 | g.229432736A>C | CA345150155 | ACTA1 | c.274T>G (p.Phe92Val) c.139T>G (p.Phe47Val) | |
1 | g.229432736A>G | CA345150157 | ACTA1 | c.274T>C (p.Phe92Leu) c.139T>C (p.Phe47Leu) | |
1 | g.229432736A>T | CA345150154 | ACTA1 | c.274T>A (p.Phe92Ile) c.139T>A (p.Phe47Ile) | |
1 | g.229432737G>A | CA423755362 | ACTA1 | c.273C>T (p.Thr91=) c.138C>T (p.Thr46=) | |
1 | g.229432737G>C | CA423755363 | ACTA1 | c.273C>G (p.Thr91=) c.138C>G (p.Thr46=) | |
1 | g.229432737G>T | CA423755364 | ACTA1 | c.273C>A (p.Thr91=) c.138C>A (p.Thr46=) | |
1 | g.229432738G>A | CA345150160 | ACTA1 | c.272C>T (p.Thr91Ile) c.137C>T (p.Thr46Ile) | |
1 | g.229432738G>C | CA1442901 | ACTA1 | c.272C>G (p.Thr91Ser) c.137C>G (p.Thr46Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432738G= | CA1226125945 | ACTA1 | c.272C= (p.Thr91=) c.137C= (p.Thr46=) | |
1 | g.229432738G>T | CA345150162 | ACTA1 | c.272C>A (p.Thr91Asn) c.137C>A (p.Thr46Asn) | |
1 | g.229432739T>A | CA345150171 | ACTA1 | c.271A>T (p.Thr91Ser) c.136A>T (p.Thr46Ser) | |
1 | g.229432739T>C | CA38816508 | ACTA1 | c.271A>G (p.Thr91Ala) c.136A>G (p.Thr46Ala) | dbSNP |
1 | g.229432739T>G | CA345150175 | ACTA1 | c.271A>C (p.Thr91Pro) c.136A>C (p.Thr46Pro) | |
1 | g.229432739T= | CA1226125946 | ACTA1 | c.271A= (p.Thr91=) c.136A= (p.Thr46=) | |
1 | g.229432740G>A | CA423755365 | ACTA1 | c.270C>T (p.His90=) c.135C>T (p.His45=) | |
1 | g.229432740G>C | CA345150177 | ACTA1 | c.270C>G (p.His90Gln) c.135C>G (p.His45Gln) | |
1 | g.229432740G>T | CA345150178 | ACTA1 | c.270C>A (p.His90Gln) c.135C>A (p.His45Gln) | |
1 | g.229432741T>A | CA345150179 | ACTA1 | c.269A>T (p.His90Leu) c.134A>T (p.His45Leu) | |
1 | g.229432741T>C | CA345150180 | ACTA1 | c.269A>G (p.His90Arg) c.134A>G (p.His45Arg) | |
1 | g.229432741T>G | CA345150182 | ACTA1 | c.269A>C (p.His90Pro) c.134A>C (p.His45Pro) | |
1 | g.229432742G>A | CA345150192 | ACTA1 | c.268C>T (p.His90Tyr) c.133C>T (p.His45Tyr) | |
1 | g.229432742G>C | CA345150196 | ACTA1 | c.268C>G (p.His90Asp) c.133C>G (p.His45Asp) | |
1 | g.229432742G>T | CA345150198 | ACTA1 | c.268C>A (p.His90Asn) c.133C>A (p.His45Asn) |