Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431738_229431744delCA916422660ACTA1c.972_978del (p.Ser325Ter)
c.837_843del (p.Ser280Ter)
c.603_609del (p.Ser202Ter)
 dbSNP gnomAD v4
1g.229431740G>ACA345145370ACTA1c.971C>T (p.Pro324Leu)
c.836C>T (p.Pro279Leu)
c.602C>T (p.Pro201Leu)
1g.229431740G>CCA345145372ACTA1c.971C>G (p.Pro324Arg)
c.836C>G (p.Pro279Arg)
c.602C>G (p.Pro201Arg)
1g.229431740G=CA1226125471ACTA1c.971C= (p.Pro324=)
c.836C= (p.Pro279=)
c.602C= (p.Pro201=)
1g.229431740G>TCA345145375ACTA1c.971C>A (p.Pro324His)
c.836C>A (p.Pro279His)
c.602C>A (p.Pro201His)
 dbSNP
1g.229431741G>ACA345145385ACTA1c.970C>T (p.Pro324Ser)
c.835C>T (p.Pro279Ser)
c.601C>T (p.Pro201Ser)
1g.229431741G>CCA345145388ACTA1c.970C>G (p.Pro324Ala)
c.835C>G (p.Pro279Ala)
c.601C>G (p.Pro201Ala)
1g.229431741G>TCA345145391ACTA1c.970C>A (p.Pro324Thr)
c.835C>A (p.Pro279Thr)
c.601C>A (p.Pro201Thr)
1g.229431742T>ACA423754918ACTA1c.969A>T (p.Ala323=)
c.834A>T (p.Ala278=)
c.600A>T (p.Ala200=)
 dbSNP
1g.229431742T>CCA423754920ACTA1c.969A>G (p.Ala323=)
c.834A>G (p.Ala278=)
c.600A>G (p.Ala200=)
1g.229431742T>GCA423754919ACTA1c.969A>C (p.Ala323=)
c.834A>C (p.Ala278=)
c.600A>C (p.Ala200=)
 dbSNP
1g.229431742T=CA1226125472ACTA1c.969A= (p.Ala323=)
c.834A= (p.Ala278=)
c.600A= (p.Ala200=)
1g.229431742_229431748delinsTGCCAGCCA1226125473ACTA1c.963_969delinsGCTGGCA (p.Ala321=)
c.828_834delinsGCTGGCA (p.Ala276=)
c.594_600delinsGCTGGCA (p.Ala198=)
1g.229431743G>ACA345145394ACTA1c.968C>T (p.Ala323Val)
c.833C>T (p.Ala278Val)
c.599C>T (p.Ala200Val)
1g.229431743G>CCA345145395ACTA1c.968C>G (p.Ala323Gly)
c.833C>G (p.Ala278Gly)
c.599C>G (p.Ala200Gly)
1g.229431743G>TCA345145399ACTA1c.968C>A (p.Ala323Glu)
c.833C>A (p.Ala278Glu)
c.599C>A (p.Ala200Glu)
1g.229431745_229431750delCA658656988ACTA1c.963_968del (p.Leu322_Ala323del)
c.828_833del (p.Leu277_Ala278del)
c.594_599del (p.Leu199_Ala200del)
 ClinVar dbSNP
1g.229431744C>ACA345145413ACTA1c.967G>T (p.Ala323Ser)
c.832G>T (p.Ala278Ser)
c.598G>T (p.Ala200Ser)
1g.229431744C>GCA345145402ACTA1c.967G>C (p.Ala323Pro)
c.832G>C (p.Ala278Pro)
c.598G>C (p.Ala200Pro)
1g.229431744C>TCA345145411ACTA1c.967G>A (p.Ala323Thr)
c.832G>A (p.Ala278Thr)
c.598G>A (p.Ala200Thr)
1g.229431745delCA2574151192ACTA1c.967del (p.Ala323HisfsTer5)
c.832del (p.Ala278HisfsTer5)
c.598del (p.Ala200HisfsTer5)
1g.229431745C>ACA423754921ACTA1c.966G>T (p.Leu322=)
c.831G>T (p.Leu277=)
c.597G>T (p.Leu199=)
1g.229431745C=CA1226125474ACTA1c.966G= (p.Leu322=)
c.831G= (p.Leu277=)
c.597G= (p.Leu199=)
1g.229431745C>GCA1442747ACTA1c.966G>C (p.Leu322=)
c.831G>C (p.Leu277=)
c.597G>C (p.Leu199=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431745C>TCA10610293ACTA1c.966G>A (p.Leu322=)
c.831G>A (p.Leu277=)
c.597G>A (p.Leu199=)
 ClinVar dbSNP
1g.229431746A=CA1226125475ACTA1c.965T= (p.Leu322=)
c.830T= (p.Leu277=)
c.596T= (p.Leu199=)
1g.229431746A>CCA345145415ACTA1c.965T>G (p.Leu322Arg)
c.830T>G (p.Leu277Arg)
c.596T>G (p.Leu199Arg)
1g.229431746A>GCA345145416ACTA1c.965T>C (p.Leu322Pro)
c.830T>C (p.Leu277Pro)
c.596T>C (p.Leu199Pro)
1g.229431746A>TCA345145418ACTA1c.965T>A (p.Leu322Gln)
c.830T>A (p.Leu277Gln)
c.596T>A (p.Leu199Gln)
 ClinVar dbSNP
1g.229431747G>ACA423754922ACTA1c.964C>T (p.Leu322=)
c.829C>T (p.Leu277=)
c.595C>T (p.Leu199=)
 gnomAD v4
1g.229431747G>CCA345145422ACTA1c.964C>G (p.Leu322Val)
c.829C>G (p.Leu277Val)
c.595C>G (p.Leu199Val)
 ClinVar dbSNP
1g.229431747G=CA1226125476ACTA1c.964C= (p.Leu322=)
c.829C= (p.Leu277=)
c.595C= (p.Leu199=)
1g.229431747G>TCA345145423ACTA1c.964C>A (p.Leu322Met)
c.829C>A (p.Leu277Met)
c.595C>A (p.Leu199Met)
1g.229431748C>ACA1442750ACTA1c.963G>T (p.Ala321=)
c.828G>T (p.Ala276=)
c.594G>T (p.Ala198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431748C=CA1144004716ACTA1c.963G= (p.Ala321=)
c.828G= (p.Ala276=)
c.594G= (p.Ala198=)
1g.229431748C>GCA1442748ACTA1c.963G>C (p.Ala321=)
c.828G>C (p.Ala276=)
c.594G>C (p.Ala198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431748C>TCA1442749ACTA1c.963G>A (p.Ala321=)
c.828G>A (p.Ala276=)
c.594G>A (p.Ala198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229431749G>ACA345145438ACTA1c.962C>T (p.Ala321Val)
c.827C>T (p.Ala276Val)
c.593C>T (p.Ala198Val)
 COSMIC
1g.229431749G>CCA345145442ACTA1c.962C>G (p.Ala321Gly)
c.827C>G (p.Ala276Gly)
c.593C>G (p.Ala198Gly)
1g.229431749G>TCA345145445ACTA1c.962C>A (p.Ala321Glu)
c.827C>A (p.Ala276Glu)
c.593C>A (p.Ala198Glu)
1g.229431750C>ACA345145453ACTA1c.961G>T (p.Ala321Ser)
c.826G>T (p.Ala276Ser)
c.592G>T (p.Ala198Ser)
1g.229431750C>GCA345145455ACTA1c.961G>C (p.Ala321Pro)
c.826G>C (p.Ala276Pro)
c.592G>C (p.Ala198Pro)
1g.229431750C>TCA345145449ACTA1c.961G>A (p.Ala321Thr)
c.826G>A (p.Ala276Thr)
c.592G>A (p.Ala198Thr)
 gnomAD v4 COSMIC
1g.229431751G>ACA423754923ACTA1c.960C>T (p.Thr320=)
c.825C>T (p.Thr275=)
c.591C>T (p.Thr197=)
 ClinVar dbSNP gnomAD v4
1g.229431751G>CCA423754924ACTA1c.960C>G (p.Thr320=)
c.825C>G (p.Thr275=)
c.591C>G (p.Thr197=)
 dbSNP
1g.229431751G=CA1226125477ACTA1c.960C= (p.Thr320=)
c.825C= (p.Thr275=)
c.591C= (p.Thr197=)
1g.229431751G>TCA423754925ACTA1c.960C>A (p.Thr320=)
c.825C>A (p.Thr275=)
c.591C>A (p.Thr197=)
 dbSNP
1g.229431752G>ACA345145463ACTA1c.959C>T (p.Thr320Ile)
c.824C>T (p.Thr275Ile)
c.590C>T (p.Thr197Ile)
1g.229431752G>CCA345145458ACTA1c.959C>G (p.Thr320Ser)
c.824C>G (p.Thr275Ser)
c.590C>G (p.Thr197Ser)
1g.229431752G=CA1226125478ACTA1c.959C= (p.Thr320=)
c.824C= (p.Thr275=)
c.590C= (p.Thr197=)

Number of alleles fetched