Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432352_229432357delCA2650926674ACTA1c.529_534del (p.Ile177_Met178del)
c.394_399del (p.Ile132_Met133del)
c.479+50_479+55del (n.479+50_479+55del)
gnomAD v4
1g.229432355G>ACA423755028ACTA1c.531C>T (p.Ile177=)
c.396C>T (p.Ile132=)
c.479+52C>T (n.479+52C>T)
1g.229432355G>CCA345148409ACTA1c.531C>G (p.Ile177Met)
c.396C>G (p.Ile132Met)
c.479+52C>G (n.479+52C>G)
1g.229432355G>TCA423755029ACTA1c.531C>A (p.Ile177=)
c.396C>A (p.Ile132=)
c.479+52C>A (n.479+52C>A)
1g.229432356A>CCA345148411ACTA1c.530T>G (p.Ile177Ser)
c.395T>G (p.Ile132Ser)
c.479+51T>G (n.479+51T>G)
1g.229432356A>GCA345148413ACTA1c.530T>C (p.Ile177Thr)
c.395T>C (p.Ile132Thr)
c.479+51T>C (n.479+51T>C)
gnomAD v4
1g.229432356A>TCA345148415ACTA1c.530T>A (p.Ile177Asn)
c.395T>A (p.Ile132Asn)
c.479+51T>A (n.479+51T>A)
1g.229432357T>ACA345148417ACTA1c.529A>T (p.Ile177Phe)
c.394A>T (p.Ile132Phe)
c.479+50A>T (n.479+50A>T)
1g.229432357T>CCA345148419ACTA1c.529A>G (p.Ile177Val)
c.394A>G (p.Ile132Val)
c.479+50A>G (n.479+50A>G)
ClinVar dbSNP
1g.229432357T>GCA345148420ACTA1c.529A>C (p.Ile177Leu)
c.394A>C (p.Ile132Leu)
c.479+50A>C (n.479+50A>C)
1g.229432357T=CA1226125753ACTA1c.529A= (p.Ile177=)
c.394A= (p.Ile132=)
c.479+50A= (n.479+50A=)
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)

Number of alleles fetched