Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432361_229432391delCA2573051509ACTA1c.498_528del (p.Ile167SerfsTer15)
c.363_393del (p.Ile122SerfsTer15)
c.479+19_479+49del (n.479+19_479+49del)
ClinVar dbSNP
1g.229432361G>ACA423755036ACTA1c.525C>T (p.His175=)
c.390C>T (p.His130=)
c.479+46C>T (n.479+46C>T)
dbSNP
1g.229432361G>CCA345148443ACTA1c.525C>G (p.His175Gln)
c.390C>G (p.His130Gln)
c.479+46C>G (n.479+46C>G)
1g.229432361G>TCA345148441ACTA1c.525C>A (p.His175Gln)
c.390C>A (p.His130Gln)
c.479+46C>A (n.479+46C>A)
1g.229432362T>ACA345148444ACTA1c.524A>T (p.His175Leu)
c.389A>T (p.His130Leu)
c.479+45A>T (n.479+45A>T)
1g.229432362T>CCA345148450ACTA1c.524A>G (p.His175Arg)
c.389A>G (p.His130Arg)
c.479+45A>G (n.479+45A>G)
1g.229432362T>GCA345148453ACTA1c.524A>C (p.His175Pro)
c.389A>C (p.His130Pro)
c.479+45A>C (n.479+45A>C)
1g.229432363G>ACA345148456ACTA1c.523C>T (p.His175Tyr)
c.388C>T (p.His130Tyr)
c.479+44C>T (n.479+44C>T)
1g.229432363G>CCA345148457ACTA1c.523C>G (p.His175Asp)
c.388C>G (p.His130Asp)
c.479+44C>G (n.479+44C>G)
1g.229432363G>TCA345148458ACTA1c.523C>A (p.His175Asn)
c.388C>A (p.His130Asn)
c.479+44C>A (n.479+44C>A)
1g.229432364C>ACA423755039ACTA1c.522G>T (p.Pro174=)
c.387G>T (p.Pro129=)
c.479+43G>T (n.479+43G>T)
dbSNP
1g.229432364C=CA1226125756ACTA1c.522G= (p.Pro174=)
c.387G= (p.Pro129=)
c.479+43G= (n.479+43G=)
1g.229432364C>GCA423755040ACTA1c.522G>C (p.Pro174=)
c.387G>C (p.Pro129=)
c.479+43G>C (n.479+43G>C)
1g.229432364C>TCA1442846ACTA1c.522G>A (p.Pro174=)
c.387G>A (p.Pro129=)
c.479+43G>A (n.479+43G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229432365G>ACA16043983ACTA1c.521C>T (p.Pro174Leu)
c.386C>T (p.Pro129Leu)
c.479+42C>T (n.479+42C>T)
ClinVar dbSNP gnomAD v4
1g.229432365G>CCA345148469ACTA1c.521C>G (p.Pro174Arg)
c.386C>G (p.Pro129Arg)
c.479+42C>G (n.479+42C>G)
ClinVar dbSNP
1g.229432365G=CA1226125757ACTA1c.521C= (p.Pro174=)
c.386C= (p.Pro129=)
c.479+42C= (n.479+42C=)
1g.229432365G>TCA345148473ACTA1c.521C>A (p.Pro174Gln)
c.386C>A (p.Pro129Gln)
c.479+42C>A (n.479+42C>A)
1g.229432366G>ACA345148474ACTA1c.520C>T (p.Pro174Ser)
c.385C>T (p.Pro129Ser)
c.479+41C>T (n.479+41C>T)
gnomAD v4
1g.229432366G>CCA345148477ACTA1c.520C>G (p.Pro174Ala)
c.385C>G (p.Pro129Ala)
c.479+41C>G (n.479+41C>G)
1g.229432366G>TCA345148479ACTA1c.520C>A (p.Pro174Thr)
c.385C>A (p.Pro129Thr)
c.479+41C>A (n.479+41C>A)
1g.229432367C>ACA423755042ACTA1c.519G>T (p.Leu173=)
c.384G>T (p.Leu128=)
c.479+40G>T (n.479+40G>T)
1g.229432367C>GCA423755044ACTA1c.519G>C (p.Leu173=)
c.384G>C (p.Leu128=)
c.479+40G>C (n.479+40G>C)
1g.229432367C>TCA423755045ACTA1c.519G>A (p.Leu173=)
c.384G>A (p.Leu128=)
c.479+40G>A (n.479+40G>A)
1g.229432368A>CCA345148482ACTA1c.518T>G (p.Leu173Arg)
c.383T>G (p.Leu128Arg)
c.479+39T>G (n.479+39T>G)
1g.229432368A>GCA345148512ACTA1c.518T>C (p.Leu173Pro)
c.383T>C (p.Leu128Pro)
c.479+39T>C (n.479+39T>C)
1g.229432368A>TCA345148492ACTA1c.518T>A (p.Leu173Gln)
c.383T>A (p.Leu128Gln)
c.479+39T>A (n.479+39T>A)
1g.229432369G>ACA423755047ACTA1c.517C>T (p.Leu173=)
c.382C>T (p.Leu128=)
c.479+38C>T (n.479+38C>T)
1g.229432369G>CCA345148517ACTA1c.517C>G (p.Leu173Val)
c.382C>G (p.Leu128Val)
c.479+38C>G (n.479+38C>G)
1g.229432369G>TCA345148519ACTA1c.517C>A (p.Leu173Met)
c.382C>A (p.Leu128Met)
c.479+38C>A (n.479+38C>A)
ClinVar dbSNP
1g.229432370C>ACA423755048ACTA1c.516G>T (p.Ala172=)
c.381G>T (p.Ala127=)
c.479+37G>T (n.479+37G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432370C=CA1226125758ACTA1c.516G= (p.Ala172=)
c.381G= (p.Ala127=)
c.479+37G= (n.479+37G=)
1g.229432370C>GCA423755049ACTA1c.516G>C (p.Ala172=)
c.381G>C (p.Ala127=)
c.479+37G>C (n.479+37G>C)
ClinVar dbSNP
1g.229432370C>TCA423755050ACTA1c.516G>A (p.Ala172=)
c.381G>A (p.Ala127=)
c.479+37G>A (n.479+37G>A)
1g.229432371G>ACA345148520ACTA1c.515C>T (p.Ala172Val)
c.380C>T (p.Ala127Val)
c.479+36C>T (n.479+36C>T)
ClinVar dbSNP gnomAD v4
1g.229432371G>CCA345148521ACTA1c.515C>G (p.Ala172Gly)
c.380C>G (p.Ala127Gly)
c.479+36C>G (n.479+36C>G)
1g.229432371G=CA1148225033ACTA1c.515C= (p.Ala172=)
c.380C= (p.Ala127=)
c.479+36C= (n.479+36C=)
1g.229432371G>TCA151571ACTA1c.515C>A (p.Ala172Glu)
c.380C>A (p.Ala127Glu)
c.479+36C>A (n.479+36C>A)
ClinVar dbSNP
1g.229432372C>ACA345148522ACTA1c.514G>T (p.Ala172Ser)
c.379G>T (p.Ala127Ser)
c.479+35G>T (n.479+35G>T)
1g.229432372C>GCA345148524ACTA1c.514G>C (p.Ala172Pro)
c.379G>C (p.Ala127Pro)
c.479+35G>C (n.479+35G>C)
1g.229432372C>TCA345148528ACTA1c.514G>A (p.Ala172Thr)
c.379G>A (p.Ala127Thr)
c.479+35G>A (n.479+35G>A)
1g.229432373G>ACA423755054ACTA1c.513C>T (p.Tyr171=)
c.378C>T (p.Tyr126=)
c.479+34C>T (n.479+34C>T)
dbSNP
1g.229432373G>CCA345148536ACTA1c.513C>G (p.Tyr171Ter)
c.378C>G (p.Tyr126Ter)
c.479+34C>G (n.479+34C>G)
1g.229432373G=CA1226125759ACTA1c.513C= (p.Tyr171=)
c.378C= (p.Tyr126=)
c.479+34C= (n.479+34C=)
1g.229432373G>TCA345148538ACTA1c.513C>A (p.Tyr171Ter)
c.378C>A (p.Tyr126Ter)
c.479+34C>A (n.479+34C>A)
1g.229432374T>ACA345148541ACTA1c.512A>T (p.Tyr171Phe)
c.377A>T (p.Tyr126Phe)
c.479+33A>T (n.479+33A>T)
1g.229432374T>CCA345148543ACTA1c.512A>G (p.Tyr171Cys)
c.377A>G (p.Tyr126Cys)
c.479+33A>G (n.479+33A>G)
1g.229432374T>GCA345148545ACTA1c.512A>C (p.Tyr171Ser)
c.377A>C (p.Tyr126Ser)
c.479+33A>C (n.479+33A>C)
1g.229432375A=CA1226125760ACTA1c.511T= (p.Tyr171=)
c.376T= (p.Tyr126=)
c.479+32T= (n.479+32T=)
1g.229432375A>CCA345148556ACTA1c.511T>G (p.Tyr171Asp)
c.376T>G (p.Tyr126Asp)
c.479+32T>G (n.479+32T>G)

Number of alleles fetched