Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432667_229432684del | CA2739273924 | ACTA1 | c.331_348del (p.Pro111_Ala116del) c.196_213del (p.Pro66_Ala71del) | ClinVar |
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 |