Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382714T>ACA390849557SERPINA1c.524A>T (p.Glu175Val)
c.266A>T (p.Glu89Val)
14g.94382714T>CCA390849558SERPINA1c.524A>G (p.Glu175Gly)
c.266A>G (p.Glu89Gly)
14g.94382714T>GCA390849559SERPINA1c.524A>C (p.Glu175Ala)
c.266A>C (p.Glu89Ala)
14g.94382715C>ACA390849560SERPINA1c.523G>T (p.Glu175Ter)
c.265G>T (p.Glu89Ter)
14g.94382715C>GCA390849561SERPINA1c.523G>C (p.Glu175Gln)
c.265G>C (p.Glu89Gln)
14g.94382715C>TCA7327477SERPINA1c.523G>A (p.Glu175Lys)
c.265G>A (p.Glu89Lys)
dbSNP ExAC gnomAD
14g.94382716G>ACA7327478SERPINA1c.522C>T (p.Thr174=)
c.264C>T (p.Thr88=)
ClinVar dbSNP ExAC gnomAD COSMIC
14g.94382716G>CCA487622032SERPINA1c.522C>G (p.Thr174=)
c.264C>G (p.Thr88=)
14g.94382716G>TCA487622034SERPINA1c.522C>A (p.Thr174=)
c.264C>A (p.Thr88=)
14g.94382716delCA966134404SERPINA1c.521del (p.Glu175LysfsTer?)
c.263del (p.Glu89LysfsTer?)
14g.94382717G>ACA390849562SERPINA1c.521C>T (p.Thr174Ile)
c.263C>T (p.Thr88Ile)
14g.94382717G>CCA390849563SERPINA1c.521C>G (p.Thr174Ser)
c.263C>G (p.Thr88Ser)
14g.94382717G>TCA390849564SERPINA1c.521C>A (p.Thr174Asn)
c.263C>A (p.Thr88Asn)
14g.94382718T>ACA390849565SERPINA1c.520A>T (p.Thr174Ser)
c.262A>T (p.Thr88Ser)
14g.94382718T>CCA390849566SERPINA1c.520A>G (p.Thr174Ala)
c.262A>G (p.Thr88Ala)
gnomAD
14g.94382718T>GCA390849567SERPINA1c.520A>C (p.Thr174Pro)
c.262A>C (p.Thr88Pro)
14g.94382719G>ACA487622035SERPINA1c.519C>T (p.Asp173=)
c.261C>T (p.Asp87=)
gnomAD
14g.94382719G>CCA390849568SERPINA1c.519C>G (p.Asp173Glu)
c.261C>G (p.Asp87Glu)
14g.94382719G>TCA390849569SERPINA1c.519C>A (p.Asp173Glu)
c.261C>A (p.Asp87Glu)
14g.94382720T>ACA390849570SERPINA1c.518A>T (p.Asp173Val)
c.260A>T (p.Asp87Val)
14g.94382720T>CCA390849571SERPINA1c.518A>G (p.Asp173Gly)
c.260A>G (p.Asp87Gly)
14g.94382720T>GCA390849572SERPINA1c.518A>C (p.Asp173Ala)
c.260A>C (p.Asp87Ala)
14g.94382721C>ACA390849574SERPINA1c.517G>T (p.Asp173Tyr)
c.259G>T (p.Asp87Tyr)
14g.94382721C>GCA390849575SERPINA1c.517G>C (p.Asp173His)
c.259G>C (p.Asp87His)
14g.94382721C>TCA390849573SERPINA1c.517G>A (p.Asp173Asn)
c.259G>A (p.Asp87Asn)
14g.94382722C>ACA487622036SERPINA1c.516G>T (p.Gly172=)
c.258G>T (p.Gly86=)
14g.94382722C>GCA487622037SERPINA1c.516G>C (p.Gly172=)
c.258G>C (p.Gly86=)
14g.94382722C>TCA487622038SERPINA1c.516G>A (p.Gly172=)
c.258G>A (p.Gly86=)
14g.94382723C>ACA390849576SERPINA1c.515G>T (p.Gly172Val)
c.257G>T (p.Gly86Val)
14g.94382723C>GCA390849577SERPINA1c.515G>C (p.Gly172Ala)
c.257G>C (p.Gly86Ala)
14g.94382723C>TCA390849578SERPINA1c.515G>A (p.Gly172Glu)
c.257G>A (p.Gly86Glu)
14g.94382724C>ACA7327480SERPINA1c.514G>T (p.Gly172Trp)
c.256G>T (p.Gly86Trp)
ClinVar dbSNP ExAC gnomAD
14g.94382724C>GCA390849579SERPINA1c.514G>C (p.Gly172Arg)
c.256G>C (p.Gly86Arg)
14g.94382724C>TCA7327479SERPINA1c.514G>A (p.Gly172Arg)
c.256G>A (p.Gly86Arg)
ClinVar dbSNP ExAC gnomAD
14g.[94382724C>T;94383009_94383011del]CA645372995SERPINA1c.[221_223del;514G>A] (p.[Phe76del;Gly172Arg])
c.[-23-15_-23-13del;256G>A] (p.Gly86Arg)
ClinVar
14g.94382725G>ACA7327481SERPINA1c.513C>T (p.Phe171=)
c.255C>T (p.Phe85=)
ClinVar dbSNP ExAC gnomAD
14g.94382725G>CCA390849580SERPINA1c.513C>G (p.Phe171Leu)
c.255C>G (p.Phe85Leu)
14g.94382725G>TCA390849581SERPINA1c.513C>A (p.Phe171Leu)
c.255C>A (p.Phe85Leu)
14g.94382726A>CCA390849582SERPINA1c.512T>G (p.Phe171Cys)
c.254T>G (p.Phe85Cys)
14g.94382726A>GCA390849583SERPINA1c.512T>C (p.Phe171Ser)
c.254T>C (p.Phe85Ser)
14g.94382726A>TCA390849584SERPINA1c.512T>A (p.Phe171Tyr)
c.254T>A (p.Phe85Tyr)
14g.94382727A>CCA390849585SERPINA1c.511T>G (p.Phe171Val)
c.253T>G (p.Phe85Val)
14g.94382727A>GCA390849586SERPINA1c.511T>C (p.Phe171Leu)
c.253T>C (p.Phe85Leu)
14g.94382727A>TCA390849587SERPINA1c.511T>A (p.Phe171Ile)
c.253T>A (p.Phe85Ile)
14g.94382728G>ACA487622040SERPINA1c.510C>T (p.Asn170=)
c.252C>T (p.Asn84=)
14g.94382728G>CCA7327482SERPINA1c.510C>G (p.Asn170Lys)
c.252C>G (p.Asn84Lys)
dbSNP ExAC gnomAD
14g.94382728G>TCA390849588SERPINA1c.510C>A (p.Asn170Lys)
c.252C>A (p.Asn84Lys)
14g.94382729T>ACA390849589SERPINA1c.509A>T (p.Asn170Ile)
c.251A>T (p.Asn84Ile)
14g.94382729T>CCA390849591SERPINA1c.509A>G (p.Asn170Ser)
c.251A>G (p.Asn84Ser)
14g.94382729T>GCA390849590SERPINA1c.509A>C (p.Asn170Thr)
c.251A>C (p.Asn84Thr)
COSMIC

Number of alleles fetched