Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
14g.94382730T>ACA390849592SERPINA1c.508A>T (p.Asn170Tyr)
c.250A>T (p.Asn84Tyr)
14g.94382730T>CCA390849594SERPINA1c.508A>G (p.Asn170Asp)
c.250A>G (p.Asn84Asp)
14g.94382730T>GCA390849593SERPINA1c.508A>C (p.Asn170His)
c.250A>C (p.Asn84His)
14g.94382731G>ACA487622041SERPINA1c.507C>T (p.Val169=)
c.249C>T (p.Val83=)
14g.94382731G>CCA487622042SERPINA1c.507C>G (p.Val169=)
c.249C>G (p.Val83=)
14g.94382731G>TCA487622043SERPINA1c.507C>A (p.Val169=)
c.249C>A (p.Val83=)
14g.94382732A>CCA390849595SERPINA1c.506T>G (p.Val169Gly)
c.248T>G (p.Val83Gly)
14g.94382732A>GCA390849597SERPINA1c.506T>C (p.Val169Ala)
c.248T>C (p.Val83Ala)
14g.94382732A>TCA390849596SERPINA1c.506T>A (p.Val169Asp)
c.248T>A (p.Val83Asp)
14g.94382733C>ACA390849598SERPINA1c.505G>T (p.Val169Phe)
c.247G>T (p.Val83Phe)
14g.94382733C>GCA390849600SERPINA1c.505G>C (p.Val169Leu)
c.247G>C (p.Val83Leu)
14g.94382733C>TCA390849599SERPINA1c.505G>A (p.Val169Ile)
c.247G>A (p.Val83Ile)
14g.94382734A>CCA487622044SERPINA1c.504T>G (p.Thr168=)
c.246T>G (p.Thr82=)
14g.94382734A>GCA487622046SERPINA1c.504T>C (p.Thr168=)
c.246T>C (p.Thr82=)
14g.94382734A>TCA487622045SERPINA1c.504T>A (p.Thr168=)
c.246T>A (p.Thr82=)
14g.94382735G>ACA390849601SERPINA1c.503C>T (p.Thr168Ile)
c.245C>T (p.Thr82Ile)
14g.94382735G>CCA390849602SERPINA1c.503C>G (p.Thr168Ser)
c.245C>G (p.Thr82Ser)
14g.94382735G>TCA390849603SERPINA1c.503C>A (p.Thr168Asn)
c.245C>A (p.Thr82Asn)
14g.94382736T>ACA390849604SERPINA1c.502A>T (p.Thr168Ser)
c.244A>T (p.Thr82Ser)
14g.94382736T>CCA7327483SERPINA1c.502A>G (p.Thr168Ala)
c.244A>G (p.Thr82Ala)
dbSNP ExAC gnomAD
14g.94382736T>GCA390849605SERPINA1c.502A>C (p.Thr168Pro)
c.244A>C (p.Thr82Pro)
14g.94382737G>ACA487622047SERPINA1c.501C>T (p.Phe167=)
c.243C>T (p.Phe81=)

Number of alleles fetched