Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431731A>CCA345145296ACTA1c.980T>G (p.Met327Arg)
c.845T>G (p.Met282Arg)
c.611T>G (p.Met204Arg)
1g.229431731A>GCA345145291ACTA1c.980T>C (p.Met327Thr)
c.845T>C (p.Met282Thr)
c.611T>C (p.Met204Thr)
1g.229431731A>TCA345145294ACTA1c.980T>A (p.Met327Lys)
c.845T>A (p.Met282Lys)
c.611T>A (p.Met204Lys)
 ClinVar dbSNP
1g.229431732T>ACA345145299ACTA1c.979A>T (p.Met327Leu)
c.844A>T (p.Met282Leu)
c.610A>T (p.Met204Leu)
1g.229431732T>CCA345145303ACTA1c.979A>G (p.Met327Val)
c.844A>G (p.Met282Val)
c.610A>G (p.Met204Val)
 gnomAD v4
1g.229431732T>GCA345145307ACTA1c.979A>C (p.Met327Leu)
c.844A>C (p.Met282Leu)
c.610A>C (p.Met204Leu)
1g.229431732_229431739delinsTGGTGCTGCA1226125468ACTA1c.972_979delinsCAGCACCA (p.Pro324=)
c.837_844delinsCAGCACCA (p.Pro279=)
c.603_610delinsCAGCACCA (p.Pro201=)
1g.229431733G>ACA423754908ACTA1c.978C>T (p.Thr326=)
c.843C>T (p.Thr281=)
c.609C>T (p.Thr203=)
 gnomAD v4
1g.229431733G>CCA423754909ACTA1c.978C>G (p.Thr326=)
c.843C>G (p.Thr281=)
c.609C>G (p.Thr203=)
 gnomAD v4
1g.229431733G=CA1226125469ACTA1c.978C= (p.Thr326=)
c.843C= (p.Thr281=)
c.609C= (p.Thr203=)
1g.229431733G>TCA423754907ACTA1c.978C>A (p.Thr326=)
c.843C>A (p.Thr281=)
c.609C>A (p.Thr203=)
 dbSNP
1g.229431738_229431744delCA916422660ACTA1c.972_978del (p.Ser325Ter)
c.837_843del (p.Ser280Ter)
c.603_609del (p.Ser202Ter)
 dbSNP gnomAD v4
1g.229431734G>ACA345145314ACTA1c.977C>T (p.Thr326Ile)
c.842C>T (p.Thr281Ile)
c.608C>T (p.Thr203Ile)
 dbSNP gnomAD v4
1g.229431734G>CCA345145317ACTA1c.977C>G (p.Thr326Ser)
c.842C>G (p.Thr281Ser)
c.608C>G (p.Thr203Ser)
1g.229431734G=CA1226125470ACTA1c.977C= (p.Thr326=)
c.842C= (p.Thr281=)
c.608C= (p.Thr203=)
1g.229431734G>TCA345145326ACTA1c.977C>A (p.Thr326Asn)
c.842C>A (p.Thr281Asn)
c.608C>A (p.Thr203Asn)
1g.229431735T>ACA345145331ACTA1c.976A>T (p.Thr326Ser)
c.841A>T (p.Thr281Ser)
c.607A>T (p.Thr203Ser)
1g.229431735T>CCA345145334ACTA1c.976A>G (p.Thr326Ala)
c.841A>G (p.Thr281Ala)
c.607A>G (p.Thr203Ala)
 gnomAD v4
1g.229431735T>GCA345145338ACTA1c.976A>C (p.Thr326Pro)
c.841A>C (p.Thr281Pro)
c.607A>C (p.Thr203Pro)
1g.229431736G>ACA423754911ACTA1c.975C>T (p.Ser325=)
c.840C>T (p.Ser280=)
c.606C>T (p.Ser202=)
1g.229431736G>CCA345145344ACTA1c.975C>G (p.Ser325Arg)
c.840C>G (p.Ser280Arg)
c.606C>G (p.Ser202Arg)
1g.229431736G>TCA345145348ACTA1c.975C>A (p.Ser325Arg)
c.840C>A (p.Ser280Arg)
c.606C>A (p.Ser202Arg)
 ClinVar
1g.229431737C>ACA345145355ACTA1c.974G>T (p.Ser325Ile)
c.839G>T (p.Ser280Ile)
c.605G>T (p.Ser202Ile)
1g.229431737C>GCA345145362ACTA1c.974G>C (p.Ser325Thr)
c.839G>C (p.Ser280Thr)
c.605G>C (p.Ser202Thr)
1g.229431737C>TCA345145351ACTA1c.974G>A (p.Ser325Asn)
c.839G>A (p.Ser280Asn)
c.605G>A (p.Ser202Asn)
 gnomAD v4
1g.229431738T>ACA345145364ACTA1c.973A>T (p.Ser325Cys)
c.838A>T (p.Ser280Cys)
c.604A>T (p.Ser202Cys)
 gnomAD v4
1g.229431738T>CCA345145368ACTA1c.973A>G (p.Ser325Gly)
c.838A>G (p.Ser280Gly)
c.604A>G (p.Ser202Gly)
 gnomAD v4
1g.229431738T>GCA345145369ACTA1c.973A>C (p.Ser325Arg)
c.838A>C (p.Ser280Arg)
c.604A>C (p.Ser202Arg)
1g.229431739G>ACA423754913ACTA1c.972C>T (p.Pro324=)
c.837C>T (p.Pro279=)
c.603C>T (p.Pro201=)
1g.229431739G>CCA423754914ACTA1c.972C>G (p.Pro324=)
c.837C>G (p.Pro279=)
c.603C>G (p.Pro201=)
1g.229431739G>TCA423754915ACTA1c.972C>A (p.Pro324=)
c.837C>A (p.Pro279=)
c.603C>A (p.Pro201=)
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)

Number of alleles fetched