Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431800C>ACA345145692ACTA1c.911G>T (p.Gly304Val)
c.776G>T (p.Gly259Val)
c.542G>T (p.Gly181Val)
1g.229431800C>GCA345145690ACTA1c.911G>C (p.Gly304Ala)
c.776G>C (p.Gly259Ala)
c.542G>C (p.Gly181Ala)
1g.229431800C>TCA345145689ACTA1c.911G>A (p.Gly304Asp)
c.776G>A (p.Gly259Asp)
c.542G>A (p.Gly181Asp)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.229431805dupCA1442754ACTA1c.911dup (p.Thr305HisfsTer9)
c.776dup (p.Thr260HisfsTer9)
c.542dup (p.Thr182HisfsTer9)
 dbSNP ExAC gnomAD v4
1g.229431805delCA423755024ACTA1c.911del (p.Gly304AlafsTer24)
c.776del (p.Gly259AlafsTer24)
c.542del (p.Gly181AlafsTer24)
 gnomAD v4 COSMIC
1g.229431801C>ACA345145695ACTA1c.910G>T (p.Gly304Cys)
c.775G>T (p.Gly259Cys)
c.541G>T (p.Gly181Cys)
1g.229431801C>GCA345145696ACTA1c.910G>C (p.Gly304Arg)
c.775G>C (p.Gly259Arg)
c.541G>C (p.Gly181Arg)
1g.229431801C>TCA345145698ACTA1c.910G>A (p.Gly304Ser)
c.775G>A (p.Gly259Ser)
c.541G>A (p.Gly181Ser)
1g.229431802C>ACA423755030ACTA1c.909G>T (p.Gly303=)
c.774G>T (p.Gly258=)
c.540G>T (p.Gly180=)
1g.229431802C=CA1226125496ACTA1c.909G= (p.Gly303=)
c.774G= (p.Gly258=)
c.540G= (p.Gly180=)
1g.229431802C>GCA423755031ACTA1c.909G>C (p.Gly303=)
c.774G>C (p.Gly258=)
c.540G>C (p.Gly180=)
1g.229431802C>TCA423755033ACTA1c.909G>A (p.Gly303=)
c.774G>A (p.Gly258=)
c.540G>A (p.Gly180=)
 dbSNP
1g.229431803C>ACA345145700ACTA1c.908G>T (p.Gly303Val)
c.773G>T (p.Gly258Val)
c.539G>T (p.Gly180Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431803C=CA1226125497ACTA1c.908G= (p.Gly303=)
c.773G= (p.Gly258=)
c.539G= (p.Gly180=)
1g.229431803C>GCA345145701ACTA1c.908G>C (p.Gly303Ala)
c.773G>C (p.Gly258Ala)
c.539G>C (p.Gly180Ala)
 dbSNP
1g.229431803C>TCA345145703ACTA1c.908G>A (p.Gly303Glu)
c.773G>A (p.Gly258Glu)
c.539G>A (p.Gly180Glu)
1g.229431804C>ACA345145711ACTA1c.907G>T (p.Gly303Trp)
c.772G>T (p.Gly258Trp)
c.538G>T (p.Gly180Trp)
1g.229431804C>GCA345145709ACTA1c.907G>C (p.Gly303Arg)
c.772G>C (p.Gly258Arg)
c.538G>C (p.Gly180Arg)
1g.229431804C>TCA345145707ACTA1c.907G>A (p.Gly303Arg)
c.772G>A (p.Gly258Arg)
c.538G>A (p.Gly180Arg)
1g.229431805C>ACA423755037ACTA1c.906G>T (p.Ser302=)
c.771G>T (p.Ser257=)
c.537G>T (p.Ser179=)
 dbSNP
1g.229431805C=CA1149104533ACTA1c.906G= (p.Ser302=)
c.771G= (p.Ser257=)
c.537G= (p.Ser179=)
1g.229431805C>GCA423755038ACTA1c.906G>C (p.Ser302=)
c.771G>C (p.Ser257=)
c.537G>C (p.Ser179=)
1g.229431805C>TCA1442755ACTA1c.906G>A (p.Ser302=)
c.771G>A (p.Ser257=)
c.537G>A (p.Ser179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229431806G>ACA345145722ACTA1c.905C>T (p.Ser302Leu)
c.770C>T (p.Ser257Leu)
c.536C>T (p.Ser179Leu)
 gnomAD v4
1g.229431806G>CCA345145718ACTA1c.905C>G (p.Ser302Trp)
c.770C>G (p.Ser257Trp)
c.536C>G (p.Ser179Trp)
1g.229431806G>TCA345145720ACTA1c.905C>A (p.Ser302Ter)
c.770C>A (p.Ser257Ter)
c.536C>A (p.Ser179Ter)
 gnomAD v4
1g.229431807A>CCA345145728ACTA1c.904T>G (p.Ser302Ala)
c.769T>G (p.Ser257Ala)
c.535T>G (p.Ser179Ala)
1g.229431807A>GCA345145730ACTA1c.904T>C (p.Ser302Pro)
c.769T>C (p.Ser257Pro)
c.535T>C (p.Ser179Pro)
1g.229431807A>TCA345145733ACTA1c.904T>A (p.Ser302Thr)
c.769T>A (p.Ser257Thr)
c.535T>A (p.Ser179Thr)
1g.229431808C>ACA345145736ACTA1c.903G>T (p.Met301Ile)
c.768G>T (p.Met256Ile)
c.534G>T (p.Met178Ile)
1g.229431808C>GCA345145738ACTA1c.903G>C (p.Met301Ile)
c.768G>C (p.Met256Ile)
c.534G>C (p.Met178Ile)
1g.229431808C>TCA345145741ACTA1c.903G>A (p.Met301Ile)
c.768G>A (p.Met256Ile)
c.534G>A (p.Met178Ile)
1g.229431809A>CCA345145742ACTA1c.902T>G (p.Met301Arg)
c.767T>G (p.Met256Arg)
c.533T>G (p.Met178Arg)
1g.229431809A>GCA345145744ACTA1c.902T>C (p.Met301Thr)
c.767T>C (p.Met256Thr)
c.533T>C (p.Met178Thr)
1g.229431809A>TCA345145746ACTA1c.902T>A (p.Met301Lys)
c.767T>A (p.Met256Lys)
c.533T>A (p.Met178Lys)
1g.229431810T>ACA345145754ACTA1c.901A>T (p.Met301Leu)
c.766A>T (p.Met256Leu)
c.532A>T (p.Met178Leu)
1g.229431810T>CCA345145752ACTA1c.901A>G (p.Met301Val)
c.766A>G (p.Met256Val)
c.532A>G (p.Met178Val)
1g.229431810T>GCA345145750ACTA1c.901A>C (p.Met301Leu)
c.766A>C (p.Met256Leu)
c.532A>C (p.Met178Leu)
 dbSNP
1g.229431810T=CA1226125498ACTA1c.901A= (p.Met301=)
c.766A= (p.Met256=)
c.532A= (p.Met178=)
1g.229431811G>ACA423754856ACTA1c.900C>T (p.Val300=)
c.765C>T (p.Val255=)
c.531C>T (p.Val177=)
1g.229431811G>CCA423754854ACTA1c.900C>G (p.Val300=)
c.765C>G (p.Val255=)
c.531C>G (p.Val177=)
1g.229431811G>TCA423754855ACTA1c.900C>A (p.Val300=)
c.765C>A (p.Val255=)
c.531C>A (p.Val177=)
1g.229431812A>CCA345145757ACTA1c.899T>G (p.Val300Gly)
c.764T>G (p.Val255Gly)
c.530T>G (p.Val177Gly)
1g.229431812A>GCA345145760ACTA1c.899T>C (p.Val300Ala)
c.764T>C (p.Val255Ala)
c.530T>C (p.Val177Ala)
1g.229431812A>TCA345145763ACTA1c.899T>A (p.Val300Asp)
c.764T>A (p.Val255Asp)
c.530T>A (p.Val177Asp)
1g.229431813C>ACA345145766ACTA1c.898G>T (p.Val300Phe)
c.763G>T (p.Val255Phe)
c.529G>T (p.Val177Phe)
 ClinVar dbSNP
1g.229431813C=CA1226125499ACTA1c.898G= (p.Val300=)
c.763G= (p.Val255=)
c.529G= (p.Val177=)
1g.229431813C>GCA345145768ACTA1c.898G>C (p.Val300Leu)
c.763G>C (p.Val255Leu)
c.529G>C (p.Val177Leu)
 gnomAD v4
1g.229431813C>TCA345145771ACTA1c.898G>A (p.Val300Ile)
c.763G>A (p.Val255Ile)
c.529G>A (p.Val177Ile)
1g.229431814G>ACA38815125ACTA1c.897C>T (p.Asn299=)
c.762C>T (p.Asn254=)
c.528C>T (p.Asn176=)
 dbSNP COSMIC

Number of alleles fetched