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.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.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) |