Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382778delCA7327489SERPINA1c.464del (p.Leu155TrpfsTer?)
c.206del (p.Leu69TrpfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382776A>CCA390849832SERPINA1c.462T>G (p.Phe154Leu)
c.204T>G (p.Phe68Leu)
14g.94382776A>GCA487841036SERPINA1c.462T>C (p.Phe154=)
c.204T>C (p.Phe68=)
14g.94382776A>TCA390849834SERPINA1c.462T>A (p.Phe154Leu)
c.204T>A (p.Phe68Leu)
14g.94382777A>CCA390849836SERPINA1c.461T>G (p.Phe154Cys)
c.203T>G (p.Phe68Cys)
14g.94382777A>GCA390849838SERPINA1c.461T>C (p.Phe154Ser)
c.203T>C (p.Phe68Ser)
COSMIC
14g.94382777A>TCA390849839SERPINA1c.461T>A (p.Phe154Tyr)
c.203T>A (p.Phe68Tyr)
14g.94382778A=CA2155954771SERPINA1c.460T= (p.Phe154=)
c.202T= (p.Phe68=)
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 v2 gnomAD v3 gnomAD v4
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=)
gnomAD v4
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)
gnomAD v4
14g.94382781T>CCA7327492SERPINA1c.457A>G (p.Lys153Glu)
c.199A>G (p.Lys67Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382781T>GCA390849852SERPINA1c.457A>C (p.Lys153Gln)
c.199A>C (p.Lys67Gln)
14g.94382781T=CA2155954772SERPINA1c.457A= (p.Lys153=)
c.199A= (p.Lys67=)
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 v2 gnomAD v4
14g.94382783T>GCA390849861SERPINA1c.455A>C (p.Asp152Ala)
c.197A>C (p.Asp66Ala)
14g.94382783T=CA2155954773SERPINA1c.455A= (p.Asp152=)
c.197A= (p.Asp66=)
14g.94382784C>ACA390849862SERPINA1c.454G>T (p.Asp152Tyr)
c.196G>T (p.Asp66Tyr)
gnomAD v4
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=CA2155954775SERPINA1c.453G= (p.Val151=)
c.195G= (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=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382785_94382788delinsCACTCA2155954774SERPINA1c.450_453delinsAGTG (p.Leu150=)
c.192_195delinsAGTG (p.Leu64=)
14g.94382786A>CCA390849867SERPINA1c.452T>G (p.Val151Gly)
c.194T>G (p.Val65Gly)
14g.94382786A>GCA390849868SERPINA1c.452T>C (p.Val151Ala)
c.194T>C (p.Val65Ala)
gnomAD v4
14g.94382786A>TCA390849869SERPINA1c.452T>A (p.Val151Glu)
c.194T>A (p.Val65Glu)
14g.94382787_94382789delCA616114859SERPINA1c.450_452del (p.Val151del)
c.192_194del (p.Val65del)
dbSNP gnomAD v2 gnomAD v4
14g.94382787C>ACA390849871SERPINA1c.451G>T (p.Val151Leu)
c.193G>T (p.Val65Leu)
14g.94382787C=CA2155954776SERPINA1c.451G= (p.Val151=)
c.193G= (p.Val65=)
14g.94382787C>GCA7327494SERPINA1c.451G>C (p.Val151Leu)
c.193G>C (p.Val65Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382787C>TCA390849872SERPINA1c.451G>A (p.Val151Met)
c.193G>A (p.Val65Met)
dbSNP
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 v2 gnomAD v3 gnomAD v4
14g.94382788T>GCA487841046SERPINA1c.450A>C (p.Leu150=)
c.192A>C (p.Leu64=)
14g.94382788T=CA2155954777SERPINA1c.450A= (p.Leu150=)
c.192A= (p.Leu64=)
14g.94382789A=CA2155954778SERPINA1c.449T= (p.Leu150=)
c.191T= (p.Leu64=)
14g.94382789A>CCA390849876SERPINA1c.449T>G (p.Leu150Arg)
c.191T>G (p.Leu64Arg)

Number of alleles fetched