Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432046G>ACA423754997ACTA1c.756C>T (p.Ile252=)
c.621C>T (p.Ile207=)
c.480-184C>T (n.480-184C>T)
 dbSNP gnomAD v4 COSMIC
1g.229432046G>CCA345146657ACTA1c.756C>G (p.Ile252Met)
c.621C>G (p.Ile207Met)
c.480-184C>G (n.480-184C>G)
 COSMIC
1g.229432046G=CA1226125626ACTA1c.756C= (p.Ile252=)
c.621C= (p.Ile207=)
c.480-184C= (n.480-184C=)
1g.229432046G>TCA423754996ACTA1c.756C>A (p.Ile252=)
c.621C>A (p.Ile207=)
c.480-184C>A (n.480-184C>A)
 gnomAD v4
1g.229432047A>CCA345146661ACTA1c.755T>G (p.Ile252Ser)
c.620T>G (p.Ile207Ser)
c.480-185T>G (n.480-185T>G)
1g.229432047A>GCA345146663ACTA1c.755T>C (p.Ile252Thr)
c.620T>C (p.Ile207Thr)
c.480-185T>C (n.480-185T>C)
1g.229432047A>TCA345146665ACTA1c.755T>A (p.Ile252Asn)
c.620T>A (p.Ile207Asn)
c.480-185T>A (n.480-185T>A)
1g.229432048T>ACA345146668ACTA1c.754A>T (p.Ile252Phe)
c.619A>T (p.Ile207Phe)
c.480-186A>T (n.480-186A>T)
1g.229432048T>CCA345146669ACTA1c.754A>G (p.Ile252Val)
c.619A>G (p.Ile207Val)
c.480-186A>G (n.480-186A>G)
 gnomAD v4
1g.229432048T>GCA345146670ACTA1c.754A>C (p.Ile252Leu)
c.619A>C (p.Ile207Leu)
c.480-186A>C (n.480-186A>C)
1g.229432049G>ACA423755002ACTA1c.753C>T (p.Thr251=)
c.618C>T (p.Thr206=)
c.480-187C>T (n.480-187C>T)
 gnomAD v4
1g.229432049G>CCA423755004ACTA1c.753C>G (p.Thr251=)
c.618C>G (p.Thr206=)
c.480-187C>G (n.480-187C>G)
1g.229432049G>TCA423755000ACTA1c.753C>A (p.Thr251=)
c.618C>A (p.Thr206=)
c.480-187C>A (n.480-187C>A)
1g.229432050G>ACA345146673ACTA1c.752C>T (p.Thr251Ile)
c.617C>T (p.Thr206Ile)
c.480-188C>T (n.480-188C>T)
1g.229432050G>CCA345146676ACTA1c.752C>G (p.Thr251Ser)
c.617C>G (p.Thr206Ser)
c.480-188C>G (n.480-188C>G)
1g.229432050G>TCA345146678ACTA1c.752C>A (p.Thr251Asn)
c.617C>A (p.Thr206Asn)
c.480-188C>A (n.480-188C>A)
 gnomAD v4
1g.229432051T>ACA345146681ACTA1c.751A>T (p.Thr251Ser)
c.616A>T (p.Thr206Ser)
c.480-189A>T (n.480-189A>T)
 ClinVar
1g.229432051T>CCA345146684ACTA1c.751A>G (p.Thr251Ala)
c.616A>G (p.Thr206Ala)
c.480-189A>G (n.480-189A>G)
1g.229432051T>GCA345146687ACTA1c.751A>C (p.Thr251Pro)
c.616A>C (p.Thr206Pro)
c.480-189A>C (n.480-189A>C)
1g.229432052G>ACA423755006ACTA1c.750C>T (p.Ile250=)
c.615C>T (p.Ile205=)
c.480-190C>T (n.480-190C>T)
1g.229432052G>CCA345146689ACTA1c.750C>G (p.Ile250Met)
c.615C>G (p.Ile205Met)
c.480-190C>G (n.480-190C>G)
1g.229432052G>TCA423755008ACTA1c.750C>A (p.Ile250=)
c.615C>A (p.Ile205=)
c.480-190C>A (n.480-190C>A)
1g.229432053A=CA1226125627ACTA1c.749T= (p.Ile250=)
c.614T= (p.Ile205=)
c.480-191T= (n.480-191T=)
1g.229432053A>CCA345146697ACTA1c.749T>G (p.Ile250Ser)
c.614T>G (p.Ile205Ser)
c.480-191T>G (n.480-191T>G)
1g.229432053A>GCA345146692ACTA1c.749T>C (p.Ile250Thr)
c.614T>C (p.Ile205Thr)
c.480-191T>C (n.480-191T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229432053A>TCA345146695ACTA1c.749T>A (p.Ile250Asn)
c.614T>A (p.Ile205Asn)
c.480-191T>A (n.480-191T>A)
1g.229432054T>ACA345146699ACTA1c.748A>T (p.Ile250Phe)
c.613A>T (p.Ile205Phe)
c.480-192A>T (n.480-192A>T)
1g.229432054T>CCA345146704ACTA1c.748A>G (p.Ile250Val)
c.613A>G (p.Ile205Val)
c.480-192A>G (n.480-192A>G)
 dbSNP gnomAD v4
1g.229432054T>GCA345146701ACTA1c.748A>C (p.Ile250Leu)
c.613A>C (p.Ile205Leu)
c.480-192A>C (n.480-192A>C)
1g.229432054T=CA1226125628ACTA1c.748A= (p.Ile250=)
c.613A= (p.Ile205=)
c.480-192A= (n.480-192A=)
1g.229432055G>ACA423755014ACTA1c.747C>T (p.Val249=)
c.612C>T (p.Val204=)
c.480-193C>T (n.480-193C>T)
1g.229432055G>CCA423755015ACTA1c.747C>G (p.Val249=)
c.612C>G (p.Val204=)
c.480-193C>G (n.480-193C>G)
1g.229432055G>TCA423755016ACTA1c.747C>A (p.Val249=)
c.612C>A (p.Val204=)
c.480-193C>A (n.480-193C>A)
1g.229432056A>CCA345146707ACTA1c.746T>G (p.Val249Gly)
c.611T>G (p.Val204Gly)
c.480-194T>G (n.480-194T>G)
1g.229432056A>GCA345146710ACTA1c.746T>C (p.Val249Ala)
c.611T>C (p.Val204Ala)
c.480-194T>C (n.480-194T>C)
1g.229432056A>TCA345146712ACTA1c.746T>A (p.Val249Asp)
c.611T>A (p.Val204Asp)
c.480-194T>A (n.480-194T>A)
1g.229432057C>ACA345146716ACTA1c.745G>T (p.Val249Phe)
c.610G>T (p.Val204Phe)
c.480-195G>T (n.480-195G>T)
1g.229432057C=CA1142322749ACTA1c.745G= (p.Val249=)
c.610G= (p.Val204=)
c.480-195G= (n.480-195G=)
1g.229432057C>GCA345146719ACTA1c.745G>C (p.Val249Leu)
c.610G>C (p.Val204Leu)
c.480-195G>C (n.480-195G>C)
1g.229432057C>TCA1442806ACTA1c.745G>A (p.Val249Ile)
c.610G>A (p.Val204Ile)
c.480-195G>A (n.480-195G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229432058C>ACA345146724ACTA1c.744G>T (p.Gln248His)
c.609G>T (p.Gln203His)
c.480-196G>T (n.480-196G>T)
1g.229432058C=CA1226125629ACTA1c.744G= (p.Gln248=)
c.609G= (p.Gln203=)
c.480-196G= (n.480-196G=)
1g.229432058C>GCA345146727ACTA1c.744G>C (p.Gln248His)
c.609G>C (p.Gln203His)
c.480-196G>C (n.480-196G>C)
1g.229432058C>TCA423755021ACTA1c.744G>A (p.Gln248=)
c.609G>A (p.Gln203=)
c.480-196G>A (n.480-196G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.229432059T>ACA345146730ACTA1c.743A>T (p.Gln248Leu)
c.608A>T (p.Gln203Leu)
c.480-197A>T (n.480-197A>T)
1g.229432059T>CCA345146731ACTA1c.743A>G (p.Gln248Arg)
c.608A>G (p.Gln203Arg)
c.480-197A>G (n.480-197A>G)
1g.229432059T>GCA345146733ACTA1c.743A>C (p.Gln248Pro)
c.608A>C (p.Gln203Pro)
c.480-197A>C (n.480-197A>C)
1g.229432060G>ACA345146741ACTA1c.742C>T (p.Gln248Ter)
c.607C>T (p.Gln203Ter)
c.480-198C>T (n.480-198C>T)
1g.229432060G>CCA345146739ACTA1c.742C>G (p.Gln248Glu)
c.607C>G (p.Gln203Glu)
c.480-198C>G (n.480-198C>G)
1g.229432060G=CA1226125630ACTA1c.742C= (p.Gln248=)
c.607C= (p.Gln203=)
c.480-198C= (n.480-198C=)

Number of alleles fetched