Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432171C>ACA345147407ACTA1c.631G>T (p.Val211Leu)
c.496G>T (p.Val166Leu)
c.479+236G>T (n.479+236G>T)
1g.229432171C>GCA345147409ACTA1c.631G>C (p.Val211Leu)
c.496G>C (p.Val166Leu)
c.479+236G>C (n.479+236G>C)
 gnomAD v4
1g.229432171C>TCA345147413ACTA1c.631G>A (p.Val211Met)
c.496G>A (p.Val166Met)
c.479+236G>A (n.479+236G>A)
 COSMIC
1g.229432172G>ACA423755263ACTA1c.630C>T (p.Ile210=)
c.495C>T (p.Ile165=)
c.479+235C>T (n.479+235C>T)
 dbSNP gnomAD v4
1g.229432172G>CCA345147417ACTA1c.630C>G (p.Ile210Met)
c.495C>G (p.Ile165Met)
c.479+235C>G (n.479+235C>G)
 ClinVar
1g.229432172G=CA1226125668ACTA1c.630C= (p.Ile210=)
c.495C= (p.Ile165=)
c.479+235C= (n.479+235C=)
1g.229432172G>TCA423755264ACTA1c.630C>A (p.Ile210=)
c.495C>A (p.Ile165=)
c.479+235C>A (n.479+235C>A)
1g.229432173A>CCA345147423ACTA1c.629T>G (p.Ile210Ser)
c.494T>G (p.Ile165Ser)
c.479+234T>G (n.479+234T>G)
1g.229432173A>GCA345147432ACTA1c.629T>C (p.Ile210Thr)
c.494T>C (p.Ile165Thr)
c.479+234T>C (n.479+234T>C)
1g.229432173A>TCA345147434ACTA1c.629T>A (p.Ile210Asn)
c.494T>A (p.Ile165Asn)
c.479+234T>A (n.479+234T>A)
1g.229432174T>ACA345147443ACTA1c.628A>T (p.Ile210Phe)
c.493A>T (p.Ile165Phe)
c.479+233A>T (n.479+233A>T)
 gnomAD v4
1g.229432174T>CCA345147439ACTA1c.628A>G (p.Ile210Val)
c.493A>G (p.Ile165Val)
c.479+233A>G (n.479+233A>G)
1g.229432174T>GCA345147441ACTA1c.628A>C (p.Ile210Leu)
c.493A>C (p.Ile165Leu)
c.479+233A>C (n.479+233A>C)
1g.229432175C>ACA345147447ACTA1c.627G>T (p.Glu209Asp)
c.492G>T (p.Glu164Asp)
c.479+232G>T (n.479+232G>T)
 ClinVar
1g.229432175C=CA1226125669ACTA1c.627G= (p.Glu209=)
c.492G= (p.Glu164=)
c.479+232G= (n.479+232G=)
1g.229432175C>GCA345147450ACTA1c.627G>C (p.Glu209Asp)
c.492G>C (p.Glu164Asp)
c.479+232G>C (n.479+232G>C)
 ClinVar
1g.229432175C>TCA423755268ACTA1c.627G>A (p.Glu209=)
c.492G>A (p.Glu164=)
c.479+232G>A (n.479+232G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229432176T>ACA345147457ACTA1c.626A>T (p.Glu209Val)
c.491A>T (p.Glu164Val)
c.479+231A>T (n.479+231A>T)
1g.229432176T>CCA345147461ACTA1c.626A>G (p.Glu209Gly)
c.491A>G (p.Glu164Gly)
c.479+231A>G (n.479+231A>G)
1g.229432176T>GCA345147464ACTA1c.626A>C (p.Glu209Ala)
c.491A>C (p.Glu164Ala)
c.479+231A>C (n.479+231A>C)
1g.229432177C>ACA345147474ACTA1c.625G>T (p.Glu209Ter)
c.490G>T (p.Glu164Ter)
c.479+230G>T (n.479+230G>T)
1g.229432177C>GCA345147477ACTA1c.625G>C (p.Glu209Gln)
c.490G>C (p.Glu164Gln)
c.479+230G>C (n.479+230G>C)
1g.229432177C>TCA345147479ACTA1c.625G>A (p.Glu209Lys)
c.490G>A (p.Glu164Lys)
c.479+230G>A (n.479+230G>A)
1g.229432178G>ACA423755272ACTA1c.624C>T (p.Arg208=)
c.489C>T (p.Arg163=)
c.479+229C>T (n.479+229C>T)
1g.229432178G>CCA423755273ACTA1c.624C>G (p.Arg208=)
c.489C>G (p.Arg163=)
c.479+229C>G (n.479+229C>G)
1g.229432178G=CA1226125670ACTA1c.624C= (p.Arg208=)
c.489C= (p.Arg163=)
c.479+229C= (n.479+229C=)
1g.229432178G>TCA1442817ACTA1c.624C>A (p.Arg208=)
c.489C>A (p.Arg163=)
c.479+229C>A (n.479+229C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432179C>ACA345147489ACTA1c.623G>T (p.Arg208Leu)
c.488G>T (p.Arg163Leu)
c.479+228G>T (n.479+228G>T)
 dbSNP gnomAD v4
1g.229432179C=CA1226125671ACTA1c.623G= (p.Arg208=)
c.488G= (p.Arg163=)
c.479+228G= (n.479+228G=)
1g.229432179C>GCA345147492ACTA1c.623G>C (p.Arg208Pro)
c.488G>C (p.Arg163Pro)
c.479+228G>C (n.479+228G>C)
1g.229432179C>TCA345147495ACTA1c.623G>A (p.Arg208His)
c.488G>A (p.Arg163His)
c.479+228G>A (n.479+228G>A)
 dbSNP COSMIC
1g.229432180G>ACA345147498ACTA1c.622C>T (p.Arg208Cys)
c.487C>T (p.Arg163Cys)
c.479+227C>T (n.479+227C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229432180G>CCA345147503ACTA1c.622C>G (p.Arg208Gly)
c.487C>G (p.Arg163Gly)
c.479+227C>G (n.479+227C>G)
1g.229432180G=CA1142245544ACTA1c.622C= (p.Arg208=)
c.487C= (p.Arg163=)
c.479+227C= (n.479+227C=)
1g.229432180G>TCA1442818ACTA1c.622C>A (p.Arg208Ser)
c.487C>A (p.Arg163Ser)
c.479+227C>A (n.479+227C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432181C>ACA345147510ACTA1c.621G>T (p.Glu207Asp)
c.486G>T (p.Glu162Asp)
c.479+226G>T (n.479+226G>T)
1g.229432181C=CA1143538617ACTA1c.621G= (p.Glu207=)
c.486G= (p.Glu162=)
c.479+226G= (n.479+226G=)
1g.229432181C>GCA344560ACTA1c.621G>C (p.Glu207Asp)
c.486G>C (p.Glu162Asp)
c.479+226G>C (n.479+226G>C)
 ClinVar dbSNP
1g.229432181C>TCA423755275ACTA1c.621G>A (p.Glu207=)
c.486G>A (p.Glu162=)
c.479+226G>A (n.479+226G>A)
1g.229432182T>ACA345147522ACTA1c.620A>T (p.Glu207Val)
c.485A>T (p.Glu162Val)
c.479+225A>T (n.479+225A>T)
 ClinVar
1g.229432182T>CCA345147525ACTA1c.620A>G (p.Glu207Gly)
c.485A>G (p.Glu162Gly)
c.479+225A>G (n.479+225A>G)
1g.229432182T>GCA345147528ACTA1c.620A>C (p.Glu207Ala)
c.485A>C (p.Glu162Ala)
c.479+225A>C (n.479+225A>C)
1g.229432182dupCA2650926641ACTA1c.620dup (p.Arg208AlafsTer?)
c.485dup (p.Arg163AlafsTer?)
c.479+225dup (n.479+225dup)
 gnomAD v4
1g.229432183C>ACA345147531ACTA1c.619G>T (p.Glu207Ter)
c.484G>T (p.Glu162Ter)
c.479+224G>T (n.479+224G>T)
 dbSNP
1g.229432183C=CA1226125672ACTA1c.619G= (p.Glu207=)
c.484G= (p.Glu162=)
c.479+224G= (n.479+224G=)
1g.229432183C>GCA345147534ACTA1c.619G>C (p.Glu207Gln)
c.484G>C (p.Glu162Gln)
c.479+224G>C (n.479+224G>C)
1g.229432183C>TCA345147539ACTA1c.619G>A (p.Glu207Lys)
c.484G>A (p.Glu162Lys)
c.479+224G>A (n.479+224G>A)
1g.229432184A>CCA423755279ACTA1c.618T>G (p.Ala206=)
c.483T>G (p.Ala161=)
c.479+223T>G (n.479+223T>G)
1g.229432184A>GCA423755281ACTA1c.618T>C (p.Ala206=)
c.483T>C (p.Ala161=)
c.479+223T>C (n.479+223T>C)
 gnomAD v4
1g.229432184A>TCA423755280ACTA1c.618T>A (p.Ala206=)
c.483T>A (p.Ala161=)
c.479+223T>A (n.479+223T>A)

Number of alleles fetched