Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382774delCA7327489SERPINA1c.460del (p.Leu155TrpfsTer?)
c.202del (p.Leu69TrpfsTer?)
dbSNP ExAC gnomAD
14g.94382778A>CCA390849841SERPINA1c.460T>G (p.Phe154Val)
c.202T>G (p.Phe68Val)
14g.94382778A>GCA7327491SERPINA1c.460T>C (p.Phe154Leu)
c.202T>C (p.Phe68Leu)
dbSNP ExAC gnomAD
14g.94382778A>TCA390849843SERPINA1c.460T>A (p.Phe154Ile)
c.202T>A (p.Phe68Ile)
14g.94382779C>ACA390849845SERPINA1c.459G>T (p.Lys153Asn)
c.201G>T (p.Lys67Asn)
14g.94382779C>GCA390849846SERPINA1c.459G>C (p.Lys153Asn)
c.201G>C (p.Lys67Asn)
14g.94382779C>TCA487841038SERPINA1c.459G>A (p.Lys153=)
c.201G>A (p.Lys67=)
14g.94382780T>ACA390849848SERPINA1c.458A>T (p.Lys153Met)
c.200A>T (p.Lys67Met)
14g.94382780T>CCA390849849SERPINA1c.458A>G (p.Lys153Arg)
c.200A>G (p.Lys67Arg)
14g.94382780T>GCA390849850SERPINA1c.458A>C (p.Lys153Thr)
c.200A>C (p.Lys67Thr)
14g.94382781T>ACA390849854SERPINA1c.457A>T (p.Lys153Ter)
c.199A>T (p.Lys67Ter)
14g.94382781T>CCA7327492SERPINA1c.457A>G (p.Lys153Glu)
c.199A>G (p.Lys67Glu)
ClinVar dbSNP ExAC gnomAD
14g.94382781T>GCA390849852SERPINA1c.457A>C (p.Lys153Gln)
c.199A>C (p.Lys67Gln)
14g.94382782A>CCA390849857SERPINA1c.456T>G (p.Asp152Glu)
c.198T>G (p.Asp66Glu)
COSMIC
14g.94382782A>GCA487841040SERPINA1c.456T>C (p.Asp152=)
c.198T>C (p.Asp66=)
14g.94382782A>TCA390849855SERPINA1c.456T>A (p.Asp152Glu)
c.198T>A (p.Asp66Glu)
14g.94382783T>ACA390849860SERPINA1c.455A>T (p.Asp152Val)
c.197A>T (p.Asp66Val)
14g.94382783T>CCA7327493SERPINA1c.455A>G (p.Asp152Gly)
c.197A>G (p.Asp66Gly)
ClinVar dbSNP ExAC gnomAD
14g.94382783T>GCA390849861SERPINA1c.455A>C (p.Asp152Ala)
c.197A>C (p.Asp66Ala)
14g.94382784C>ACA390849862SERPINA1c.454G>T (p.Asp152Tyr)
c.196G>T (p.Asp66Tyr)
14g.94382784C>GCA390849863SERPINA1c.454G>C (p.Asp152His)
c.196G>C (p.Asp66His)
14g.94382784C>TCA390849865SERPINA1c.454G>A (p.Asp152Asn)
c.196G>A (p.Asp66Asn)
14g.94382785C>ACA487841042SERPINA1c.453G>T (p.Val151=)
c.195G>T (p.Val65=)
14g.94382785C>GCA487841043SERPINA1c.453G>C (p.Val151=)
c.195G>C (p.Val65=)
14g.94382785C>TCA487841044SERPINA1c.453G>A (p.Val151=)
c.195G>A (p.Val65=)
gnomAD
14g.94382786A>CCA390849867SERPINA1c.452T>G (p.Val151Gly)
c.194T>G (p.Val65Gly)
14g.94382786A>GCA390849868SERPINA1c.452T>C (p.Val151Ala)
c.194T>C (p.Val65Ala)
14g.94382786A>TCA390849869SERPINA1c.452T>A (p.Val151Glu)
c.194T>A (p.Val65Glu)
14g.94382786_94382788delCA616114859SERPINA1c.449_451del (p.Val151del)
c.191_193del (p.Val65del)
dbSNP gnomAD
14g.94382787C>ACA390849871SERPINA1c.451G>T (p.Val151Leu)
c.193G>T (p.Val65Leu)
14g.94382787C>GCA7327494SERPINA1c.451G>C (p.Val151Leu)
c.193G>C (p.Val65Leu)
dbSNP ExAC gnomAD
14g.94382787C>TCA390849872SERPINA1c.451G>A (p.Val151Met)
c.193G>A (p.Val65Met)
14g.94382788T>ACA487841045SERPINA1c.450A>T (p.Leu150=)
c.192A>T (p.Leu64=)
14g.94382788T>CCA7327495SERPINA1c.450A>G (p.Leu150=)
c.192A>G (p.Leu64=)
ClinVar dbSNP ExAC gnomAD
14g.94382788T>GCA487841046SERPINA1c.450A>C (p.Leu150=)
c.192A>C (p.Leu64=)
14g.94382789A>CCA390849876SERPINA1c.449T>G (p.Leu150Arg)
c.191T>G (p.Leu64Arg)
14g.94382789A>GCA390849877SERPINA1c.449T>C (p.Leu150Pro)
c.191T>C (p.Leu64Pro)
gnomAD
14g.94382789A>TCA390849879SERPINA1c.449T>A (p.Leu150Gln)
c.191T>A (p.Leu64Gln)
14g.94382790G>ACA487841047SERPINA1c.448C>T (p.Leu150=)
c.190C>T (p.Leu64=)
gnomAD
14g.94382790G>CCA390849880SERPINA1c.448C>G (p.Leu150Val)
c.190C>G (p.Leu64Val)
14g.94382790G>TCA390849881SERPINA1c.448C>A (p.Leu150Ile)
c.190C>A (p.Leu64Ile)
14g.94382791C>ACA390849883SERPINA1c.447G>T (p.Lys149Asn)
c.189G>T (p.Lys63Asn)
14g.94382791C>GCA390849884SERPINA1c.447G>C (p.Lys149Asn)
c.189G>C (p.Lys63Asn)
14g.94382791C>TCA7327496SERPINA1c.447G>A (p.Lys149=)
c.189G>A (p.Lys63=)
dbSNP ExAC gnomAD
14g.94382792T>ACA390849885SERPINA1c.446A>T (p.Lys149Met)
c.188A>T (p.Lys63Met)
14g.94382792T>CCA390849887SERPINA1c.446A>G (p.Lys149Arg)
c.188A>G (p.Lys63Arg)
14g.94382792T>GCA390849889SERPINA1c.446A>C (p.Lys149Thr)
c.188A>C (p.Lys63Thr)
14g.94382793T>ACA390849891SERPINA1c.445A>T (p.Lys149Ter)
c.187A>T (p.Lys63Ter)
14g.94382793T>CCA390849892SERPINA1c.445A>G (p.Lys149Glu)
c.187A>G (p.Lys63Glu)
14g.94382793T>GCA390849894SERPINA1c.445A>C (p.Lys149Gln)
c.187A>C (p.Lys63Gln)

Number of alleles fetched