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.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)
1g.229432375A>GCA345148549ACTA1c.511T>C (p.Tyr171His)
c.376T>C (p.Tyr126His)
c.479+32T>C (n.479+32T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.229432375A>TCA345148552ACTA1c.511T>A (p.Tyr171Asn)
c.376T>A (p.Tyr126Asn)
c.479+32T>A (n.479+32T>A)
1g.229432376G>ACA423755058ACTA1c.510C>T (p.Gly170=)
c.375C>T (p.Gly125=)
c.479+31C>T (n.479+31C>T)
 dbSNP gnomAD v4
1g.229432376G>CCA423755059ACTA1c.510C>G (p.Gly170=)
c.375C>G (p.Gly125=)
c.479+31C>G (n.479+31C>G)
 gnomAD v4
1g.229432376G=CA1226125761ACTA1c.510C= (p.Gly170=)
c.375C= (p.Gly125=)
c.479+31C= (n.479+31C=)
1g.229432376G>TCA423755060ACTA1c.510C>A (p.Gly170=)
c.375C>A (p.Gly125=)
c.479+31C>A (n.479+31C>A)
1g.229432377C>ACA345148557ACTA1c.509G>T (p.Gly170Val)
c.374G>T (p.Gly125Val)
c.479+30G>T (n.479+30G>T)
1g.229432377C>GCA345148558ACTA1c.509G>C (p.Gly170Ala)
c.374G>C (p.Gly125Ala)
c.479+30G>C (n.479+30G>C)
1g.229432377C>TCA345148559ACTA1c.509G>A (p.Gly170Asp)
c.374G>A (p.Gly125Asp)
c.479+30G>A (n.479+30G>A)
 ClinVar dbSNP
1g.229432378C>ACA345148562ACTA1c.508G>T (p.Gly170Cys)
c.373G>T (p.Gly125Cys)
c.479+29G>T (n.479+29G>T)
1g.229432378C>GCA345148563ACTA1c.508G>C (p.Gly170Arg)
c.373G>C (p.Gly125Arg)
c.479+29G>C (n.479+29G>C)
1g.229432378C>TCA345148565ACTA1c.508G>A (p.Gly170Ser)
c.373G>A (p.Gly125Ser)
c.479+29G>A (n.479+29G>A)
1g.229432379C>ACA345148568ACTA1c.507G>T (p.Glu169Asp)
c.372G>T (p.Glu124Asp)
c.479+28G>T (n.479+28G>T)
1g.229432379C>GCA345148572ACTA1c.507G>C (p.Glu169Asp)
c.372G>C (p.Glu124Asp)
c.479+28G>C (n.479+28G>C)
1g.229432379C>TCA423755065ACTA1c.507G>A (p.Glu169=)
c.372G>A (p.Glu124=)
c.479+28G>A (n.479+28G>A)
 dbSNP
1g.229432380T>ACA345148575ACTA1c.506A>T (p.Glu169Val)
c.371A>T (p.Glu124Val)
c.479+27A>T (n.479+27A>T)
1g.229432380T>CCA345148579ACTA1c.506A>G (p.Glu169Gly)
c.371A>G (p.Glu124Gly)
c.479+27A>G (n.479+27A>G)
 ClinVar
1g.229432380T>GCA345148580ACTA1c.506A>C (p.Glu169Ala)
c.371A>C (p.Glu124Ala)
c.479+27A>C (n.479+27A>C)
1g.229432380_229432390delCA2650926675ACTA1c.496_506del (p.Pro166GlyfsTer28)
c.361_371del (p.Pro121GlyfsTer28)
c.479+17_479+27del (n.479+17_479+27del)
 gnomAD v4
1g.229432381C>ACA345148596ACTA1c.505G>T (p.Glu169Ter)
c.370G>T (p.Glu124Ter)
c.479+26G>T (n.479+26G>T)
1g.229432381C>GCA345148599ACTA1c.505G>C (p.Glu169Gln)
c.370G>C (p.Glu124Gln)
c.479+26G>C (n.479+26G>C)
1g.229432381C>TCA345148584ACTA1c.505G>A (p.Glu169Lys)
c.370G>A (p.Glu124Lys)
c.479+26G>A (n.479+26G>A)
1g.229432382A>CCA345148602ACTA1c.504T>G (p.Tyr168Ter)
c.369T>G (p.Tyr123Ter)
c.479+25T>G (n.479+25T>G)
1g.229432382A>GCA423755070ACTA1c.504T>C (p.Tyr168=)
c.369T>C (p.Tyr123=)
c.479+25T>C (n.479+25T>C)
 gnomAD v4
1g.229432382A>TCA345148604ACTA1c.504T>A (p.Tyr168Ter)
c.369T>A (p.Tyr123Ter)
c.479+25T>A (n.479+25T>A)
1g.229432383T>ACA345148608ACTA1c.503A>T (p.Tyr168Phe)
c.368A>T (p.Tyr123Phe)
c.479+24A>T (n.479+24A>T)
1g.229432383T>CCA345148609ACTA1c.503A>G (p.Tyr168Cys)
c.368A>G (p.Tyr123Cys)
c.479+24A>G (n.479+24A>G)
1g.229432383T>GCA345148610ACTA1c.503A>C (p.Tyr168Ser)
c.368A>C (p.Tyr123Ser)
c.479+24A>C (n.479+24A>C)
1g.229432384A>CCA345148611ACTA1c.502T>G (p.Tyr168Asp)
c.367T>G (p.Tyr123Asp)
c.479+23T>G (n.479+23T>G)
1g.229432384A>GCA345148613ACTA1c.502T>C (p.Tyr168His)
c.367T>C (p.Tyr123His)
c.479+23T>C (n.479+23T>C)
1g.229432384A>TCA345148616ACTA1c.502T>A (p.Tyr168Asn)
c.367T>A (p.Tyr123Asn)
c.479+23T>A (n.479+23T>A)
1g.229432385A=CA1226125762ACTA1c.501T= (p.Ile167=)
c.366T= (p.Ile122=)
c.479+22T= (n.479+22T=)
1g.229432385A>CCA345148617ACTA1c.501T>G (p.Ile167Met)
c.366T>G (p.Ile122Met)
c.479+22T>G (n.479+22T>G)
1g.229432385A>GCA423755075ACTA1c.501T>C (p.Ile167=)
c.366T>C (p.Ile122=)
c.479+22T>C (n.479+22T>C)
 dbSNP
1g.229432385A>TCA423755077ACTA1c.501T>A (p.Ile167=)
c.366T>A (p.Ile122=)
c.479+22T>A (n.479+22T>A)
1g.229432386A>CCA345148631ACTA1c.500T>G (p.Ile167Ser)
c.365T>G (p.Ile122Ser)
c.479+21T>G (n.479+21T>G)
1g.229432386A>GCA345148633ACTA1c.500T>C (p.Ile167Thr)
c.365T>C (p.Ile122Thr)
c.479+21T>C (n.479+21T>C)
1g.229432386A>TCA345148635ACTA1c.500T>A (p.Ile167Asn)
c.365T>A (p.Ile122Asn)
c.479+21T>A (n.479+21T>A)
1g.229432387T>ACA345148640ACTA1c.499A>T (p.Ile167Phe)
c.364A>T (p.Ile122Phe)
c.479+20A>T (n.479+20A>T)
1g.229432387T>CCA38815922ACTA1c.499A>G (p.Ile167Val)
c.364A>G (p.Ile122Val)
c.479+20A>G (n.479+20A>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched