Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431822C>ACA345145826ACTA1c.889G>T (p.Ala297Ser)
c.754G>T (p.Ala252Ser)
c.520G>T (p.Ala174Ser)
1g.229431822C>GCA345145829ACTA1c.889G>C (p.Ala297Pro)
c.754G>C (p.Ala252Pro)
c.520G>C (p.Ala174Pro)
1g.229431822C>TCA345145824ACTA1c.889G>A (p.Ala297Thr)
c.754G>A (p.Ala252Thr)
c.520G>A (p.Ala174Thr)
 ClinVar
1g.229431823A=CA1226125500ACTA1c.888T= (p.Tyr296=)
c.753T= (p.Tyr251=)
c.519T= (p.Tyr173=)
1g.229431823A>CCA345145832ACTA1c.888T>G (p.Tyr296Ter)
c.753T>G (p.Tyr251Ter)
c.519T>G (p.Tyr173Ter)
1g.229431823A>GCA1442756ACTA1c.888T>C (p.Tyr296=)
c.753T>C (p.Tyr251=)
c.519T>C (p.Tyr173=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431823A>TCA345145835ACTA1c.888T>A (p.Tyr296Ter)
c.753T>A (p.Tyr251Ter)
c.519T>A (p.Tyr173Ter)
1g.229431824T>ACA1442757ACTA1c.887A>T (p.Tyr296Phe)
c.752A>T (p.Tyr251Phe)
c.518A>T (p.Tyr173Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431824T>CCA345145840ACTA1c.887A>G (p.Tyr296Cys)
c.752A>G (p.Tyr251Cys)
c.518A>G (p.Tyr173Cys)
1g.229431824T>GCA345145843ACTA1c.887A>C (p.Tyr296Ser)
c.752A>C (p.Tyr251Ser)
c.518A>C (p.Tyr173Ser)
1g.229431824T=CA1226125501ACTA1c.887A= (p.Tyr296=)
c.752A= (p.Tyr251=)
c.518A= (p.Tyr173=)
1g.229431825A>CCA345145845ACTA1c.886T>G (p.Tyr296Asp)
c.751T>G (p.Tyr251Asp)
c.517T>G (p.Tyr173Asp)
1g.229431825A>GCA345145849ACTA1c.886T>C (p.Tyr296His)
c.751T>C (p.Tyr251His)
c.517T>C (p.Tyr173His)
 COSMIC
1g.229431825A>TCA345145847ACTA1c.886T>A (p.Tyr296Asn)
c.751T>A (p.Tyr251Asn)
c.517T>A (p.Tyr173Asn)
1g.229431826C>ACA423754868ACTA1c.885G>T (p.Leu295=)
c.750G>T (p.Leu250=)
c.516G>T (p.Leu172=)
 COSMIC
1g.229431826C=CA1226125502ACTA1c.885G= (p.Leu295=)
c.750G= (p.Leu250=)
c.516G= (p.Leu172=)
1g.229431826C>GCA423754869ACTA1c.885G>C (p.Leu295=)
c.750G>C (p.Leu250=)
c.516G>C (p.Leu172=)
 gnomAD v4
1g.229431826C>TCA423754870ACTA1c.885G>A (p.Leu295=)
c.750G>A (p.Leu250=)
c.516G>A (p.Leu172=)
 dbSNP gnomAD v2
1g.229431827A>CCA345145852ACTA1c.884T>G (p.Leu295Arg)
c.749T>G (p.Leu250Arg)
c.515T>G (p.Leu172Arg)
1g.229431827A>GCA345145854ACTA1c.884T>C (p.Leu295Pro)
c.749T>C (p.Leu250Pro)
c.515T>C (p.Leu172Pro)
1g.229431827A>TCA345145857ACTA1c.884T>A (p.Leu295Gln)
c.749T>A (p.Leu250Gln)
c.515T>A (p.Leu172Gln)
1g.229431828G>ACA423754871ACTA1c.883C>T (p.Leu295=)
c.748C>T (p.Leu250=)
c.514C>T (p.Leu172=)
 dbSNP
1g.229431828G>CCA345145861ACTA1c.883C>G (p.Leu295Val)
c.748C>G (p.Leu250Val)
c.514C>G (p.Leu172Val)
 dbSNP
1g.229431828G=CA1226125503ACTA1c.883C= (p.Leu295=)
c.748C= (p.Leu250=)
c.514C= (p.Leu172=)
1g.229431828G>TCA345145863ACTA1c.883C>A (p.Leu295Met)
c.748C>A (p.Leu250Met)
c.514C>A (p.Leu172Met)
1g.229431829G>ACA1442758ACTA1c.882C>T (p.Asp294=)
c.747C>T (p.Asp249=)
c.513C>T (p.Asp171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431829G>CCA345145875ACTA1c.882C>G (p.Asp294Glu)
c.747C>G (p.Asp249Glu)
c.513C>G (p.Asp171Glu)
1g.229431829G=CA1148281720ACTA1c.882C= (p.Asp294=)
c.747C= (p.Asp249=)
c.513C= (p.Asp171=)
1g.229431829G>TCA345145866ACTA1c.882C>A (p.Asp294Glu)
c.747C>A (p.Asp249Glu)
c.513C>A (p.Asp171Glu)
1g.229431830T>ACA341495ACTA1c.881A>T (p.Asp294Val)
c.746A>T (p.Asp249Val)
c.512A>T (p.Asp171Val)
 ClinVar dbSNP
1g.229431830T>CCA345145880ACTA1c.881A>G (p.Asp294Gly)
c.746A>G (p.Asp249Gly)
c.512A>G (p.Asp171Gly)
1g.229431830T>GCA345145883ACTA1c.881A>C (p.Asp294Ala)
c.746A>C (p.Asp249Ala)
c.512A>C (p.Asp171Ala)
1g.229431830T=CA1141581373ACTA1c.881A= (p.Asp294=)
c.746A= (p.Asp249=)
c.512A= (p.Asp171=)
1g.229431831C>ACA345145886ACTA1c.880G>T (p.Asp294Tyr)
c.745G>T (p.Asp249Tyr)
c.511G>T (p.Asp171Tyr)
 ClinVar
1g.229431831C>GCA345145889ACTA1c.880G>C (p.Asp294His)
c.745G>C (p.Asp249His)
c.511G>C (p.Asp171His)
1g.229431831C>TCA345145892ACTA1c.880G>A (p.Asp294Asn)
c.745G>A (p.Asp249Asn)
c.511G>A (p.Asp171Asn)
 COSMIC
1g.229431832C>ACA345145895ACTA1c.879G>T (p.Lys293Asn)
c.744G>T (p.Lys248Asn)
c.510G>T (p.Lys170Asn)
1g.229431832C>GCA345145896ACTA1c.879G>C (p.Lys293Asn)
c.744G>C (p.Lys248Asn)
c.510G>C (p.Lys170Asn)
1g.229431832C>TCA423754873ACTA1c.879G>A (p.Lys293=)
c.744G>A (p.Lys248=)
c.510G>A (p.Lys170=)
1g.229431833T>ACA345145899ACTA1c.878A>T (p.Lys293Met)
c.743A>T (p.Lys248Met)
c.509A>T (p.Lys170Met)
1g.229431833T>CCA345145901ACTA1c.878A>G (p.Lys293Arg)
c.743A>G (p.Lys248Arg)
c.509A>G (p.Lys170Arg)
1g.229431833T>GCA345145903ACTA1c.878A>C (p.Lys293Thr)
c.743A>C (p.Lys248Thr)
c.509A>C (p.Lys170Thr)
1g.229431834T>ACA345145906ACTA1c.877A>T (p.Lys293Ter)
c.742A>T (p.Lys248Ter)
c.508A>T (p.Lys170Ter)
1g.229431834T>CCA345145908ACTA1c.877A>G (p.Lys293Glu)
c.742A>G (p.Lys248Glu)
c.508A>G (p.Lys170Glu)
1g.229431834T>GCA345145910ACTA1c.877A>C (p.Lys293Gln)
c.742A>C (p.Lys248Gln)
c.508A>C (p.Lys170Gln)
1g.229431835C>ACA345145916ACTA1c.876G>T (p.Arg292Ser)
c.741G>T (p.Arg247Ser)
c.507G>T (p.Arg169Ser)
 dbSNP
1g.229431835C=CA1226125504ACTA1c.876G= (p.Arg292=)
c.741G= (p.Arg247=)
c.507G= (p.Arg169=)
1g.229431835C>GCA345145914ACTA1c.876G>C (p.Arg292Ser)
c.741G>C (p.Arg247Ser)
c.507G>C (p.Arg169Ser)
1g.229431835C>TCA423754876ACTA1c.876G>A (p.Arg292=)
c.741G>A (p.Arg247=)
c.507G>A (p.Arg169=)
1g.229431836C>ACA345145919ACTA1c.875G>T (p.Arg292Met)
c.740G>T (p.Arg247Met)
c.506G>T (p.Arg169Met)

Number of alleles fetched