Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432358G>ACA423755035ACTA1c.528C>T (p.Ala176=)
c.393C>T (p.Ala131=)
c.479+49C>T (n.479+49C>T)
 dbSNP gnomAD v2
1g.229432358G>CCA423755034ACTA1c.528C>G (p.Ala176=)
c.393C>G (p.Ala131=)
c.479+49C>G (n.479+49C>G)
1g.229432358G=CA1226125754ACTA1c.528C= (p.Ala176=)
c.393C= (p.Ala131=)
c.479+49C= (n.479+49C=)
1g.229432358G>TCA423755032ACTA1c.528C>A (p.Ala176=)
c.393C>A (p.Ala131=)
c.479+49C>A (n.479+49C>A)
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.229432359G>ACA345148424ACTA1c.527C>T (p.Ala176Val)
c.392C>T (p.Ala131Val)
c.479+48C>T (n.479+48C>T)
1g.229432359G>CCA345148432ACTA1c.527C>G (p.Ala176Gly)
c.392C>G (p.Ala131Gly)
c.479+48C>G (n.479+48C>G)
1g.229432359G=CA1226125755ACTA1c.527C= (p.Ala176=)
c.392C= (p.Ala131=)
c.479+48C= (n.479+48C=)
1g.229432359G>TCA345148435ACTA1c.527C>A (p.Ala176Asp)
c.392C>A (p.Ala131Asp)
c.479+48C>A (n.479+48C>A)
 dbSNP
1g.229432360C>ACA345148438ACTA1c.526G>T (p.Ala176Ser)
c.391G>T (p.Ala131Ser)
c.479+47G>T (n.479+47G>T)
 gnomAD v4
1g.229432360C>GCA345148439ACTA1c.526G>C (p.Ala176Pro)
c.391G>C (p.Ala131Pro)
c.479+47G>C (n.479+47G>C)
1g.229432360C>TCA345148440ACTA1c.526G>A (p.Ala176Thr)
c.391G>A (p.Ala131Thr)
c.479+47G>A (n.479+47G>A)
 gnomAD v4
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)
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
1g.229432387T>GCA345148638ACTA1c.499A>C (p.Ile167Leu)
c.364A>C (p.Ile122Leu)
c.479+20A>C (n.479+20A>C)
1g.229432387T=CA1226125763ACTA1c.499A= (p.Ile167=)
c.364A= (p.Ile122=)
c.479+20A= (n.479+20A=)
1g.229432388G>ACA423755078ACTA1c.498C>T (p.Pro166=)
c.363C>T (p.Pro121=)
c.479+19C>T (n.479+19C>T)
 gnomAD v4
1g.229432388G>CCA423755079ACTA1c.498C>G (p.Pro166=)
c.363C>G (p.Pro121=)
c.479+19C>G (n.479+19C>G)
 gnomAD v4
1g.229432388G>TCA423755081ACTA1c.498C>A (p.Pro166=)
c.363C>A (p.Pro121=)
c.479+19C>A (n.479+19C>A)
1g.229432389G>ACA1442847ACTA1c.497C>T (p.Pro166Leu)
c.362C>T (p.Pro121Leu)
c.479+18C>T (n.479+18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432389G>CCA345148646ACTA1c.497C>G (p.Pro166Arg)
c.362C>G (p.Pro121Arg)
c.479+18C>G (n.479+18C>G)
1g.229432389G=CA1226125764ACTA1c.497C= (p.Pro166=)
c.362C= (p.Pro121=)
c.479+18C= (n.479+18C=)
1g.229432389G>TCA345148649ACTA1c.497C>A (p.Pro166His)
c.362C>A (p.Pro121His)
c.479+18C>A (n.479+18C>A)
 gnomAD v4
1g.229432390G>ACA345148654ACTA1c.496C>T (p.Pro166Ser)
c.361C>T (p.Pro121Ser)
c.479+17C>T (n.479+17C>T)
1g.229432390G>CCA345148657ACTA1c.496C>G (p.Pro166Ala)
c.361C>G (p.Pro121Ala)
c.479+17C>G (n.479+17C>G)
1g.229432390G>TCA345148662ACTA1c.496C>A (p.Pro166Thr)
c.361C>A (p.Pro121Thr)
c.479+17C>A (n.479+17C>A)
1g.229432391C>ACA38815925ACTA1c.495G>T (p.Val165=)
c.360G>T (p.Val120=)
c.479+16G>T (n.479+16G>T)
 dbSNP
1g.229432391C=CA1143136907ACTA1c.495G= (p.Val165=)
c.360G= (p.Val120=)
c.479+16G= (n.479+16G=)
1g.229432391C>GCA423755085ACTA1c.495G>C (p.Val165=)
c.360G>C (p.Val120=)
c.479+16G>C (n.479+16G>C)
1g.229432391C>TCA423755083ACTA1c.495G>A (p.Val165=)
c.360G>A (p.Val120=)
c.479+16G>A (n.479+16G>A)
 gnomAD v4
1g.229432392delCA2573051510ACTA1c.494del (p.Val165GlyfsTer27)
c.359del (p.Val120GlyfsTer27)
c.479+15del (n.479+15del)
 ClinVar dbSNP
1g.229432392A>CCA345148667ACTA1c.494T>G (p.Val165Gly)
c.359T>G (p.Val120Gly)
c.479+15T>G (n.479+15T>G)
1g.229432392A>GCA345148669ACTA1c.494T>C (p.Val165Ala)
c.359T>C (p.Val120Ala)
c.479+15T>C (n.479+15T>C)
1g.229432392A>TCA345148672ACTA1c.494T>A (p.Val165Glu)
c.359T>A (p.Val120Glu)
c.479+15T>A (n.479+15T>A)
1g.229432393C>ACA258134ACTA1c.493G>T (p.Val165Leu)
c.358G>T (p.Val120Leu)
c.479+14G>T (n.479+14G>T)
 ClinVar dbSNP
1g.229432393C=CA1141581377ACTA1c.493G= (p.Val165=)
c.358G= (p.Val120=)
c.479+14G= (n.479+14G=)
1g.229432393C>GCA345148678ACTA1c.493G>C (p.Val165Leu)
c.358G>C (p.Val120Leu)
c.479+14G>C (n.479+14G>C)
 ClinVar dbSNP
1g.229432393C>TCA258144ACTA1c.493G>A (p.Val165Met)
c.358G>A (p.Val120Met)
c.479+14G>A (n.479+14G>A)
 ClinVar dbSNP COSMIC
1g.229432394G>ACA423755089ACTA1c.492C>T (p.Asn164=)
c.357C>T (p.Asn119=)
c.479+13C>T (n.479+13C>T)
 COSMIC
1g.229432394G>CCA345148695ACTA1c.492C>G (p.Asn164Lys)
c.357C>G (p.Asn119Lys)
c.479+13C>G (n.479+13C>G)
1g.229432394G>TCA345148694ACTA1c.492C>A (p.Asn164Lys)
c.357C>A (p.Asn119Lys)
c.479+13C>A (n.479+13C>A)
1g.229432395T>ACA345148696ACTA1c.491A>T (p.Asn164Ile)
c.356A>T (p.Asn119Ile)
c.479+12A>T (n.479+12A>T)
1g.229432395T>CCA345148701ACTA1c.491A>G (p.Asn164Ser)
c.356A>G (p.Asn119Ser)
c.479+12A>G (n.479+12A>G)
 ClinVar
1g.229432395T>GCA345148698ACTA1c.491A>C (p.Asn164Thr)
c.356A>C (p.Asn119Thr)
c.479+12A>C (n.479+12A>C)
1g.229432396T>ACA345148706ACTA1c.490A>T (p.Asn164Tyr)
c.355A>T (p.Asn119Tyr)
c.479+11A>T (n.479+11A>T)
1g.229432396T>CCA345148709ACTA1c.490A>G (p.Asn164Asp)
c.355A>G (p.Asn119Asp)
c.479+11A>G (n.479+11A>G)
1g.229432396T>GCA345148716ACTA1c.490A>C (p.Asn164His)
c.355A>C (p.Asn119His)
c.479+11A>C (n.479+11A>C)
1g.229432397G>ACA423755093ACTA1c.489C>T (p.His163=)
c.354C>T (p.His118=)
c.479+10C>T (n.479+10C>T)
1g.229432397G>CCA345148720ACTA1c.489C>G (p.His163Gln)
c.354C>G (p.His118Gln)
c.479+10C>G (n.479+10C>G)
1g.229432397G=CA1226125765ACTA1c.489C= (p.His163=)
c.354C= (p.His118=)
c.479+10C= (n.479+10C=)
1g.229432397G>TCA345148723ACTA1c.489C>A (p.His163Gln)
c.354C>A (p.His118Gln)
c.479+10C>A (n.479+10C>A)
 ClinVar dbSNP
1g.229432398T>ACA345148726ACTA1c.488A>T (p.His163Leu)
c.353A>T (p.His118Leu)
c.479+9A>T (n.479+9A>T)
 COSMIC
1g.229432398T>CCA345148729ACTA1c.488A>G (p.His163Arg)
c.353A>G (p.His118Arg)
c.479+9A>G (n.479+9A>G)
1g.229432398T>GCA345148731ACTA1c.488A>C (p.His163Pro)
c.353A>C (p.His118Pro)
c.479+9A>C (n.479+9A>C)
1g.229432399G>ACA345148734ACTA1c.487C>T (p.His163Tyr)
c.352C>T (p.His118Tyr)
c.479+8C>T (n.479+8C>T)
1g.229432399G>CCA345148737ACTA1c.487C>G (p.His163Asp)
c.352C>G (p.His118Asp)
c.479+8C>G (n.479+8C>G)
1g.229432399G>TCA345148741ACTA1c.487C>A (p.His163Asn)
c.352C>A (p.His118Asn)
c.479+8C>A (n.479+8C>A)
1g.229432400G>ACA423755095ACTA1c.486C>T (p.Thr162=)
c.351C>T (p.Thr117=)
c.479+7C>T (n.479+7C>T)
 gnomAD v4
1g.229432400G>CCA423755096ACTA1c.486C>G (p.Thr162=)
c.351C>G (p.Thr117=)
c.479+7C>G (n.479+7C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.229432400G=CA1226125766ACTA1c.486C= (p.Thr162=)
c.351C= (p.Thr117=)
c.479+7C= (n.479+7C=)
1g.229432400G>TCA423755097ACTA1c.486C>A (p.Thr162=)
c.351C>A (p.Thr117=)
c.479+7C>A (n.479+7C>A)
 dbSNP
1g.229432401G>ACA345148748ACTA1c.485C>T (p.Thr162Ile)
c.350C>T (p.Thr117Ile)
c.479+6C>T (n.479+6C>T)
1g.229432401G>CCA345148746ACTA1c.485C>G (p.Thr162Ser)
c.350C>G (p.Thr117Ser)
c.479+6C>G (n.479+6C>G)
1g.229432401G>TCA345148743ACTA1c.485C>A (p.Thr162Asn)
c.350C>A (p.Thr117Asn)
c.479+6C>A (n.479+6C>A)
1g.229432402T>ACA345148751ACTA1c.484A>T (p.Thr162Ser)
c.349A>T (p.Thr117Ser)
c.479+5A>T (n.479+5A>T)
1g.229432402T>CCA345148753ACTA1c.484A>G (p.Thr162Ala)
c.349A>G (p.Thr117Ala)
c.479+5A>G (n.479+5A>G)
1g.229432402T>GCA345148758ACTA1c.484A>C (p.Thr162Pro)
c.349A>C (p.Thr117Pro)
c.479+5A>C (n.479+5A>C)
1g.229432403G>ACA423755100ACTA1c.483C>T (p.Val161=)
c.348C>T (p.Val116=)
c.479+4C>T (n.479+4C>T)
1g.229432403G>CCA423755102ACTA1c.483C>G (p.Val161=)
c.348C>G (p.Val116=)
c.479+4C>G (n.479+4C>G)
1g.229432403G>TCA423755103ACTA1c.483C>A (p.Val161=)
c.348C>A (p.Val116=)
c.479+4C>A (n.479+4C>A)
 gnomAD v4
1g.229432404A>CCA345148761ACTA1c.482T>G (p.Val161Gly)
c.347T>G (p.Val116Gly)
c.479+3T>G (n.479+3T>G)
1g.229432404A>GCA345148763ACTA1c.482T>C (p.Val161Ala)
c.347T>C (p.Val116Ala)
c.479+3T>C (n.479+3T>C)
1g.229432404A>TCA345148767ACTA1c.482T>A (p.Val161Asp)
c.347T>A (p.Val116Asp)
c.479+3T>A (n.479+3T>A)
1g.229432405C>ACA345148773ACTA1c.481G>T (p.Val161Phe)
c.346G>T (p.Val116Phe)
c.479+2G>T (n.479+2G>T)
1g.229432405C>GCA345148777ACTA1c.481G>C (p.Val161Leu)
c.346G>C (p.Val116Leu)
c.479+2G>C (n.479+2G>C)
 gnomAD v4
1g.229432405C>TCA345148778ACTA1c.481G>A (p.Val161Ile)
c.346G>A (p.Val116Ile)
c.479+2G>A (n.479+2G>A)
 gnomAD v4
1g.229432406G>ACA345148779ACTA1c.480C>T (p.Gly160=)
c.345C>T (p.Gly115=)
c.479+1C>T (n.479+1C>T)
 dbSNP gnomAD v4
1g.229432406G>CCA345148780ACTA1c.480C>G (p.Gly160=)
c.345C>G (p.Gly115=)
c.479+1C>G (n.479+1C>G)
1g.229432406G=CA1226125767ACTA1c.480C= (p.Gly160=)
c.345C= (p.Gly115=)
c.479+1C= (n.479+1C=)
1g.229432406G>TCA345148781ACTA1c.480C>A (p.Gly160=)
c.345C>A (p.Gly115=)
c.479+1C>A (n.479+1C>A)
 ClinVar dbSNP
1g.229432407C>ACA345148791ACTA1c.479G>T (p.Gly160Val)
c.344G>T (p.Gly115Val)
1g.229432407C>GCA345148785ACTA1c.479G>C (p.Gly160Ala)
c.344G>C (p.Gly115Ala)
1g.229432407C>TCA345148783ACTA1c.479G>A (p.Gly160Asp)
c.344G>A (p.Gly115Asp)
1g.229432407_229432425delinsCCGTCGCCGGAGTCCAGCACA1226125768ACTA1c.461_479delinsTGCTGGACTCCGGCGACGG (p.Val154=)
c.326_344delinsTGCTGGACTCCGGCGACGG (p.Val109=)
1g.229432408C>ACA345148796ACTA1c.478G>T (p.Gly160Cys)
c.343G>T (p.Gly115Cys)
1g.229432408C=CA1226125769ACTA1c.478G= (p.Gly160=)
c.343G= (p.Gly115=)
1g.229432408C>GCA345148793ACTA1c.478G>C (p.Gly160Arg)
c.343G>C (p.Gly115Arg)
1g.229432408C>TCA16617085ACTA1c.478G>A (p.Gly160Ser)
c.343G>A (p.Gly115Ser)
 ClinVar dbSNP
1g.229432410_229432427delCA658656989ACTA1c.461_478del (p.Val154_Asp159del)
c.326_343del (p.Val109_Asp114del)
 ClinVar dbSNP
1g.229432409G>ACA1442848ACTA1c.477C>T (p.Asp159=)
c.342C>T (p.Asp114=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.229432409G>CCA345148803ACTA1c.477C>G (p.Asp159Glu)
c.342C>G (p.Asp114Glu)
1g.229432409G=CA1226125770ACTA1c.477C= (p.Asp159=)
c.342C= (p.Asp114=)
1g.229432409G>TCA345148817ACTA1c.477C>A (p.Asp159Glu)
c.342C>A (p.Asp114Glu)
1g.229432410T>ACA345148827ACTA1c.476A>T (p.Asp159Val)
c.341A>T (p.Asp114Val)
1g.229432410T>CCA345148823ACTA1c.476A>G (p.Asp159Gly)
c.341A>G (p.Asp114Gly)
1g.229432410T>GCA345148822ACTA1c.476A>C (p.Asp159Ala)
c.341A>C (p.Asp114Ala)
1g.229432411C>ACA345148831ACTA1c.475G>T (p.Asp159Tyr)
c.340G>T (p.Asp114Tyr)
1g.229432411C>GCA345148834ACTA1c.475G>C (p.Asp159His)
c.340G>C (p.Asp114His)
1g.229432411C>TCA345148837ACTA1c.475G>A (p.Asp159Asn)
c.340G>A (p.Asp114Asn)
 COSMIC
1g.229432412G>ACA423755112ACTA1c.474C>T (p.Gly158=)
c.339C>T (p.Gly113=)
 dbSNP gnomAD v2 gnomAD v4
1g.229432412G>CCA423755114ACTA1c.474C>G (p.Gly158=)
c.339C>G (p.Gly113=)
1g.229432412G=CA1226125771ACTA1c.474C= (p.Gly158=)
c.339C= (p.Gly113=)
1g.229432412G>TCA423755116ACTA1c.474C>A (p.Gly158=)
c.339C>A (p.Gly113=)
 dbSNP gnomAD v4
1g.229432413C>ACA345148841ACTA1c.473G>T (p.Gly158Val)
c.338G>T (p.Gly113Val)
 gnomAD v4
1g.229432413C>GCA345148843ACTA1c.473G>C (p.Gly158Ala)
c.338G>C (p.Gly113Ala)
1g.229432413C>TCA345148846ACTA1c.473G>A (p.Gly158Asp)
c.338G>A (p.Gly113Asp)
1g.229432414delCA2650926676ACTA1c.473del (p.Gly158AlafsTer?)
c.338del (p.Gly113AlafsTer?)
c.473del (p.Gly158AlafsTer5)
 gnomAD v4
1g.229432414C>ACA345148850ACTA1c.472G>T (p.Gly158Cys)
c.337G>T (p.Gly113Cys)
 gnomAD v4
1g.229432414C>GCA345148857ACTA1c.472G>C (p.Gly158Arg)
c.337G>C (p.Gly113Arg)
1g.229432414C>TCA345148854ACTA1c.472G>A (p.Gly158Ser)
c.337G>A (p.Gly113Ser)
 gnomAD v4
1g.229432415G>ACA1442849ACTA1c.471C>T (p.Ser157=)
c.336C>T (p.Ser112=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432415G>CCA423755120ACTA1c.471C>G (p.Ser157=)
c.336C>G (p.Ser112=)
 dbSNP gnomAD v3 gnomAD v4
1g.229432415G=CA1226125772ACTA1c.471C= (p.Ser157=)
c.336C= (p.Ser112=)
1g.229432415G>TCA423755121ACTA1c.471C>A (p.Ser157=)
c.336C>A (p.Ser112=)
 dbSNP gnomAD v2 gnomAD v4
1g.229432416G>ACA345148861ACTA1c.470C>T (p.Ser157Phe)
c.335C>T (p.Ser112Phe)
1g.229432416G>CCA345148863ACTA1c.470C>G (p.Ser157Cys)
c.335C>G (p.Ser112Cys)
1g.229432416G>TCA345148866ACTA1c.470C>A (p.Ser157Tyr)
c.335C>A (p.Ser112Tyr)
1g.229432417A>CCA345148869ACTA1c.469T>G (p.Ser157Ala)
c.334T>G (p.Ser112Ala)
1g.229432417A>GCA345148872ACTA1c.469T>C (p.Ser157Pro)
c.334T>C (p.Ser112Pro)
1g.229432417A>TCA345148874ACTA1c.469T>A (p.Ser157Thr)
c.334T>A (p.Ser112Thr)
1g.229432418G>ACA423755124ACTA1c.468C>T (p.Asp156=)
c.333C>T (p.Asp111=)
1g.229432418G>CCA345148877ACTA1c.468C>G (p.Asp156Glu)
c.333C>G (p.Asp111Glu)
 COSMIC
1g.229432418G>TCA345148880ACTA1c.468C>A (p.Asp156Glu)
c.333C>A (p.Asp111Glu)
1g.229432419T>ACA345148895ACTA1c.467A>T (p.Asp156Val)
c.332A>T (p.Asp111Val)
1g.229432419T>CCA345148896ACTA1c.467A>G (p.Asp156Gly)
c.332A>G (p.Asp111Gly)
1g.229432419T>GCA345148897ACTA1c.467A>C (p.Asp156Ala)
c.332A>C (p.Asp111Ala)
1g.229432419_229432422delCA2650926677ACTA1c.464_467del (p.Leu155ProfsTer?)
c.329_332del (p.Leu110ProfsTer?)
c.464_467del (p.Leu155ProfsTer7)
 gnomAD v4
1g.229432420C>ACA345148902ACTA1c.466G>T (p.Asp156Tyr)
c.331G>T (p.Asp111Tyr)
1g.229432420C>GCA345148903ACTA1c.466G>C (p.Asp156His)
c.331G>C (p.Asp111His)
1g.229432420C>TCA345148899ACTA1c.466G>A (p.Asp156Asn)
c.331G>A (p.Asp111Asn)
1g.229432421C>ACA423755127ACTA1c.465G>T (p.Leu155=)
c.330G>T (p.Leu110=)
1g.229432421C=CA1226125773ACTA1c.465G= (p.Leu155=)
c.330G= (p.Leu110=)
1g.229432421C>GCA423755129ACTA1c.465G>C (p.Leu155=)
c.330G>C (p.Leu110=)
 dbSNP
1g.229432421C>TCA423755131ACTA1c.465G>A (p.Leu155=)
c.330G>A (p.Leu110=)
 dbSNP gnomAD v2 gnomAD v4
1g.229432422A>CCA345148910ACTA1c.464T>G (p.Leu155Arg)
c.329T>G (p.Leu110Arg)
1g.229432422A>GCA345148916ACTA1c.464T>C (p.Leu155Pro)
c.329T>C (p.Leu110Pro)
1g.229432422A>TCA345148913ACTA1c.464T>A (p.Leu155Gln)
c.329T>A (p.Leu110Gln)
1g.229432423G>ACA423755136ACTA1c.463C>T (p.Leu155=)
c.328C>T (p.Leu110=)
1g.229432423G>CCA345148918ACTA1c.463C>G (p.Leu155Val)
c.328C>G (p.Leu110Val)
1g.229432423G>TCA345148919ACTA1c.463C>A (p.Leu155Met)
c.328C>A (p.Leu110Met)
 gnomAD v4 COSMIC
1g.229432424C>ACA1442850ACTA1c.462G>T (p.Val154=)
c.327G>T (p.Val109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432424C=CA1148306544ACTA1c.462G= (p.Val154=)
c.327G= (p.Val109=)
1g.229432424C>GCA423755137ACTA1c.462G>C (p.Val154=)
c.327G>C (p.Val109=)
1g.229432424C>TCA423755138ACTA1c.462G>A (p.Val154=)
c.327G>A (p.Val109=)
 dbSNP
1g.229432425A=CA1226125774ACTA1c.461T= (p.Val154=)
c.326T= (p.Val109=)
1g.229432425A>CCA345148920ACTA1c.461T>G (p.Val154Gly)
c.326T>G (p.Val109Gly)
1g.229432425A>GCA345148921ACTA1c.461T>C (p.Val154Ala)
c.326T>C (p.Val109Ala)
 ClinVar dbSNP
1g.229432425A>TCA345148923ACTA1c.461T>A (p.Val154Glu)
c.326T>A (p.Val109Glu)
1g.229432426C>ACA1442851ACTA1c.460G>T (p.Val154Leu)
c.325G>T (p.Val109Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432426C=CA1226125775ACTA1c.460G= (p.Val154=)
c.325G= (p.Val109=)
1g.229432426C>GCA10575964ACTA1c.460G>C (p.Val154Leu)
c.325G>C (p.Val109Leu)
 ClinVar dbSNP
1g.229432426C>TCA345148945ACTA1c.460G>A (p.Val154Met)
c.325G>A (p.Val109Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.229432427G>ACA423755141ACTA1c.459C>T (p.Ile153=)
c.324C>T (p.Ile108=)
 dbSNP gnomAD v4
1g.229432427G>CCA1442852ACTA1c.459C>G (p.Ile153Met)
c.324C>G (p.Ile108Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432427G=CA1226125776ACTA1c.459C= (p.Ile153=)
c.324C= (p.Ile108=)
1g.229432427G>TCA423755143ACTA1c.459C>A (p.Ile153=)
c.324C>A (p.Ile108=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432428A>CCA345148949ACTA1c.458T>G (p.Ile153Ser)
c.323T>G (p.Ile108Ser)
1g.229432428A>GCA345148950ACTA1c.458T>C (p.Ile153Thr)
c.323T>C (p.Ile108Thr)
1g.229432428A>TCA345148951ACTA1c.458T>A (p.Ile153Asn)
c.323T>A (p.Ile108Asn)
1g.229432429T>ACA345148954ACTA1c.457A>T (p.Ile153Phe)
c.322A>T (p.Ile108Phe)
 dbSNP
1g.229432429T>CCA345148958ACTA1c.457A>G (p.Ile153Val)
c.322A>G (p.Ile108Val)
1g.229432429T>GCA345148957ACTA1c.457A>C (p.Ile153Leu)
c.322A>C (p.Ile108Leu)
 ClinVar gnomAD v4
1g.229432429T=CA1226125777ACTA1c.457A= (p.Ile153=)
c.322A= (p.Ile108=)
1g.229432430G>ACA423755144ACTA1c.456C>T (p.Gly152=)
c.321C>T (p.Gly107=)
 gnomAD v4
1g.229432430G>CCA423755145ACTA1c.456C>G (p.Gly152=)
c.321C>G (p.Gly107=)
1g.229432430G>TCA423755146ACTA1c.456C>A (p.Gly152=)
c.321C>A (p.Gly107=)
1g.229432431C>ACA345148960ACTA1c.455G>T (p.Gly152Val)
c.320G>T (p.Gly107Val)
1g.229432431C>GCA345148964ACTA1c.455G>C (p.Gly152Ala)
c.320G>C (p.Gly107Ala)
1g.229432431C>TCA345148971ACTA1c.455G>A (p.Gly152Asp)
c.320G>A (p.Gly107Asp)
 gnomAD v4
1g.229432433_229432556delCA2650926678ACTA1c.454+2_455del
c.319+2_320del
 gnomAD v4
1g.229432432C>ACA38815960ACTA1c.455-1G>T (n.455-1G>T)
c.320-1G>T (n.320-1G>T)
 dbSNP
1g.229432432C=CA1226125778ACTA1c.455-1G= (n.455-1G=)
c.320-1G= (n.320-1G=)
1g.229432432C>GCA345148974ACTA1c.455-1G>C (n.455-1G>C)
c.320-1G>C (n.320-1G>C)
1g.229432432C>TCA345148975ACTA1c.455-1G>A (n.455-1G>A)
c.320-1G>A (n.320-1G>A)
1g.229432433T>ACA345148976ACTA1c.455-2A>T (n.455-2A>T)
c.320-2A>T (n.320-2A>T)
 ClinVar dbSNP
1g.229432433T>CCA345148978ACTA1c.455-2A>G (n.455-2A>G)
c.320-2A>G (n.320-2A>G)
 ClinVar dbSNP gnomAD v4
1g.229432433T>GCA38815977ACTA1c.455-2A>C (n.455-2A>C)
c.320-2A>C (n.320-2A>C)
 dbSNP gnomAD v4
1g.229432433T=CA1141302247ACTA1c.455-2A= (n.455-2A=)
c.320-2A= (n.320-2A=)
1g.229432434G>ACA1226125779ACTA1c.455-3C>T (n.455-3C>T)
c.320-3C>T (n.320-3C>T)
 dbSNP gnomAD v4
1g.229432434G=CA1226125780ACTA1c.455-3C= (n.455-3C=)
c.320-3C= (n.320-3C=)
1g.229432435_229432437delinsTGCCA1226125781ACTA1c.455-6_455-4delinsGCA (n.455-6_455-4delinsGCA)
c.320-6_320-4delinsGCA (n.320-6_320-4delinsGCA)
1g.229432436G>TCA2650926679ACTA1c.455-5C>A (n.455-5C>A)
c.320-5C>A (n.320-5C>A)
 gnomAD v4
1g.229432443_229432444delCA1442853ACTA1c.455-6_455-5del (n.455-6_455-5del)
c.320-6_320-5del (n.320-6_320-5del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432437C>ACA529915293ACTA1c.455-6G>T (n.455-6G>T)
c.320-6G>T (n.320-6G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432437C=CA1148560450ACTA1c.455-6G= (n.455-6G=)
c.320-6G= (n.320-6G=)
1g.229432437C>GCA1442854ACTA1c.455-6G>C (n.455-6G>C)
c.320-6G>C (n.320-6G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229432437C>TCA2650926680ACTA1c.455-6G>A (n.455-6G>A)
c.320-6G>A (n.320-6G>A)
 gnomAD v4
1g.229432438G>ACA1226125783ACTA1c.455-7C>T (n.455-7C>T)
c.320-7C>T (n.320-7C>T)
 dbSNP gnomAD v4
1g.229432438G=CA1226125782ACTA1c.455-7C= (n.455-7C=)
c.320-7C= (n.320-7C=)
1g.229432438G>TCA1442855ACTA1c.455-7C>A (n.455-7C>A)
c.320-7C>A (n.320-7C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432439C>ACA2650926681ACTA1c.455-8G>T (n.455-8G>T)
c.320-8G>T (n.320-8G>T)
 gnomAD v4
1g.229432439C=CA1226125784ACTA1c.455-8G= (n.455-8G=)
c.320-8G= (n.320-8G=)
1g.229432439C>TCA529915294ACTA1c.455-8G>A (n.455-8G>A)
c.320-8G>A (n.320-8G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.229432440G>ACA2512323376ACTA1c.455-9C>T (n.455-9C>T)
c.320-9C>T (n.320-9C>T)
1g.229432440G>CCA1442856ACTA1c.455-9C>G (n.455-9C>G)
c.320-9C>G (n.320-9C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432440G=CA1226125785ACTA1c.455-9C= (n.455-9C=)
c.320-9C= (n.320-9C=)
1g.229432440G>TCA1226125786ACTA1c.455-9C>A (n.455-9C>A)
c.320-9C>A (n.320-9C>A)
 dbSNP gnomAD v4
1g.229432441C>ACA732580977ACTA1c.455-10G>T (n.455-10G>T)
c.320-10G>T (n.320-10G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.229432441C=CA1226125787ACTA1c.455-10G= (n.455-10G=)
c.320-10G= (n.320-10G=)
1g.229432441C>TCA529915295ACTA1c.455-10G>A (n.455-10G>A)
c.320-10G>A (n.320-10G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229432442G>TCA2574151308ACTA1c.455-11C>A (n.455-11C>A)
c.320-11C>A (n.320-11C>A)
 gnomAD v4
1g.229432451_229432530delCA1442857ACTA1c.454+35_455-11del (n.454+35_455-11del)
c.319+35_320-11del (n.319+35_320-11del)
 ExAC gnomAD v4
1g.229432443C>ACA1442858ACTA1c.455-12G>T (n.455-12G>T)
c.320-12G>T (n.320-12G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432443C=CA1143753718ACTA1c.455-12G= (n.455-12G=)
c.320-12G= (n.320-12G=)
1g.229432443C>GCA2650926682ACTA1c.455-12G>C (n.455-12G>C)
c.320-12G>C (n.320-12G>C)
 gnomAD v4
1g.229432444G>ACA2574151309ACTA1c.455-13C>T (n.455-13C>T)
c.320-13C>T (n.320-13C>T)
 gnomAD v4
1g.229432444G>CCA2650926683ACTA1c.455-13C>G (n.455-13C>G)
c.320-13C>G (n.320-13C>G)
 gnomAD v4
1g.229432444G=CA1226125788ACTA1c.455-13C= (n.455-13C=)
c.320-13C= (n.320-13C=)
1g.229432444G>TCA529915296ACTA1c.455-13C>A (n.455-13C>A)
c.320-13C>A (n.320-13C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.229432445_229432449delinsGGAGACA1226125789ACTA1c.455-18_455-14delinsTCTCC (n.455-18_455-14delinsTCTCC)
c.320-18_320-14delinsTCTCC (n.320-18_320-14delinsTCTCC)
1g.229432446G>ACA529915298ACTA1c.455-15C>T (n.455-15C>T)
c.320-15C>T (n.320-15C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.229432446G>CCA1226125791ACTA1c.455-15C>G (n.455-15C>G)
c.320-15C>G (n.320-15C>G)
 dbSNP
1g.229432446G=CA1226125790ACTA1c.455-15C= (n.455-15C=)
c.320-15C= (n.320-15C=)
1g.229432451_229432452delCA732580982ACTA1c.455-16_455-15del (n.455-16_455-15del)
c.320-16_320-15del (n.320-16_320-15del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229432449_229432452delCA529915297ACTA1c.455-18_455-15del (n.455-18_455-15del)
c.320-18_320-15del (n.320-18_320-15del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432449A>CCA2748068677ACTA1c.455-18T>G (n.455-18T>G)
c.320-18T>G (n.320-18T>G)
1g.229432449A>GCA2650926684ACTA1c.455-18T>C (n.455-18T>C)
c.320-18T>C (n.320-18T>C)
 gnomAD v4
1g.229432450G>CCA2650926685ACTA1c.455-19C>G (n.455-19C>G)
c.320-19C>G (n.320-19C>G)
 gnomAD v4
1g.229432455_229432458delCA2574151310ACTA1c.455-22_455-19del (n.455-22_455-19del)
c.320-22_320-19del (n.320-22_320-19del)
 gnomAD v4
1g.229432451delCA2650926686ACTA1c.455-20del (n.455-20del)
c.320-20del (n.320-20del)
 gnomAD v4
1g.229432451A=CA1226125792ACTA1c.455-20T= (n.455-20T=)
c.320-20T= (n.320-20T=)
1g.229432451A>TCA1226125793ACTA1c.455-20T>A (n.455-20T>A)
c.320-20T>A (n.320-20T>A)
 dbSNP
1g.229432452G>ACA2748068678ACTA1c.455-21C>T (n.455-21C>T)
c.320-21C>T (n.320-21C>T)
1g.229432452G>TCA2650926687ACTA1c.455-21C>A (n.455-21C>A)
c.320-21C>A (n.320-21C>A)
 gnomAD v4
1g.229432452_229432455delinsGTGACA1226125794ACTA1c.455-24_455-21delinsTCAC (n.455-24_455-21delinsTCAC)
c.320-24_320-21delinsTCAC (n.320-24_320-21delinsTCAC)
1g.229432453T>ACA2650926688ACTA1c.455-22A>T (n.455-22A>T)
c.320-22A>T (n.320-22A>T)
 gnomAD v4
1g.229432453T>GCA1013145553ACTA1c.455-22A>C (n.455-22A>C)
c.320-22A>C (n.320-22A>C)
 dbSNP gnomAD v3 gnomAD v4
1g.229432453T=CA1226125795ACTA1c.455-22A= (n.455-22A=)
c.320-22A= (n.320-22A=)
1g.229432453_229432455delCA732580983ACTA1c.455-24_455-22del (n.455-24_455-22del)
c.320-24_320-22del (n.320-24_320-22del)
 dbSNP
1g.229432454G>ACA2650926689ACTA1c.455-23C>T (n.455-23C>T)
c.320-23C>T (n.320-23C>T)
 gnomAD v4
1g.229432454G>TCA2650926690ACTA1c.455-23C>A (n.455-23C>A)
c.320-23C>A (n.320-23C>A)
 gnomAD v4
1g.229432455A>GCA2650926691ACTA1c.455-24T>C (n.455-24T>C)
c.320-24T>C (n.320-24T>C)
 gnomAD v4
1g.229432456G>ACA2650926693ACTA1c.455-25C>T (n.455-25C>T)
c.320-25C>T (n.320-25C>T)
 gnomAD v4
1g.229432456G>CCA2650926694ACTA1c.455-25C>G (n.455-25C>G)
c.320-25C>G (n.320-25C>G)
 gnomAD v4
1g.229432456_229432459delCA2650926692ACTA1c.455-28_455-25del (n.455-28_455-25del)
c.320-28_320-25del (n.320-28_320-25del)
 gnomAD v4
1g.229432457T>CCA732580986ACTA1c.455-26A>G (n.455-26A>G)
c.320-26A>G (n.320-26A>G)
 dbSNP
1g.229432457T>GCA1442859ACTA1c.455-26A>C (n.455-26A>C)
c.320-26A>C (n.320-26A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432457T=CA1226125796ACTA1c.455-26A= (n.455-26A=)
c.320-26A= (n.320-26A=)
1g.229432458G>CCA732580993ACTA1c.455-27C>G (n.455-27C>G)
c.320-27C>G (n.320-27C>G)
 dbSNP
1g.229432458G=CA1226125797ACTA1c.455-27C= (n.455-27C=)
c.320-27C= (n.320-27C=)

Number of alleles fetched