Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382740_94382769delCA7327484SERPINA1c.469_498del (p.Asp157_Ala166del)
c.211_240del (p.Asp71_Ala80del)
dbSNP ExAC gnomAD
14g.94382767A>CCA390849796SERPINA1c.471T>G (p.Asp157Glu)
c.213T>G (p.Asp71Glu)
14g.94382767A>GCA487841026SERPINA1c.471T>C (p.Asp157=)
c.213T>C (p.Asp71=)
14g.94382767A>TCA390849798SERPINA1c.471T>A (p.Asp157Glu)
c.213T>A (p.Asp71Glu)
14g.94382768T>ACA390849799SERPINA1c.470A>T (p.Asp157Val)
c.212A>T (p.Asp71Val)
ClinVar
14g.94382768T>CCA7327487SERPINA1c.470A>G (p.Asp157Gly)
c.212A>G (p.Asp71Gly)
dbSNP ExAC gnomAD
14g.94382768T>GCA390849802SERPINA1c.470A>C (p.Asp157Ala)
c.212A>C (p.Asp71Ala)
14g.94382769C>ACA390849803SERPINA1c.469G>T (p.Asp157Tyr)
c.211G>T (p.Asp71Tyr)
14g.94382769C>GCA390849805SERPINA1c.469G>C (p.Asp157His)
c.211G>C (p.Asp71His)
14g.94382769C>TCA390849806SERPINA1c.469G>A (p.Asp157Asn)
c.211G>A (p.Asp71Asn)
ClinVar
14g.94382770C>ACA390849807SERPINA1c.468G>T (p.Glu156Asp)
c.210G>T (p.Glu70Asp)
14g.94382770C>GCA390849809SERPINA1c.468G>C (p.Glu156Asp)
c.210G>C (p.Glu70Asp)
14g.94382770C>TCA487841030SERPINA1c.468G>A (p.Glu156=)
c.210G>A (p.Glu70=)
14g.94382771T>ACA390849811SERPINA1c.467A>T (p.Glu156Val)
c.209A>T (p.Glu70Val)
14g.94382771T>CCA390849812SERPINA1c.467A>G (p.Glu156Gly)
c.209A>G (p.Glu70Gly)
14g.94382771T>GCA390849814SERPINA1c.467A>C (p.Glu156Ala)
c.209A>C (p.Glu70Ala)
14g.94382772C>ACA265864124SERPINA1c.466G>T (p.Glu156Ter)
c.208G>T (p.Glu70Ter)
dbSNP
14g.94382772C>GCA390849817SERPINA1c.466G>C (p.Glu156Gln)
c.208G>C (p.Glu70Gln)
14g.94382772C>TCA7327488SERPINA1c.466G>A (p.Glu156Lys)
c.208G>A (p.Glu70Lys)
dbSNP ExAC gnomAD
14g.94382773C>ACA390849819SERPINA1c.465G>T (p.Leu155Phe)
c.207G>T (p.Leu69Phe)
14g.94382773C>GCA390849821SERPINA1c.465G>C (p.Leu155Phe)
c.207G>C (p.Leu69Phe)
14g.94382773C>TCA487841034SERPINA1c.465G>A (p.Leu155=)
c.207G>A (p.Leu69=)
gnomAD
14g.94382774A>CCA390849823SERPINA1c.464T>G (p.Leu155Trp)
c.206T>G (p.Leu69Trp)
14g.94382774A>GCA390849824SERPINA1c.464T>C (p.Leu155Ser)
c.206T>C (p.Leu69Ser)
14g.94382774A>TCA390849826SERPINA1c.464T>A (p.Leu155Ter)
c.206T>A (p.Leu69Ter)
14g.94382774delCA7327489SERPINA1c.460del (p.Leu155TrpfsTer?)
c.202del (p.Leu69TrpfsTer?)
dbSNP ExAC gnomAD
14g.94382775A>CCA390849830SERPINA1c.463T>G (p.Leu155Val)
c.205T>G (p.Leu69Val)
14g.94382775A>GCA7327490SERPINA1c.463T>C (p.Leu155=)
c.205T>C (p.Leu69=)
dbSNP ExAC gnomAD
14g.94382775A>TCA390849828SERPINA1c.463T>A (p.Leu155Met)
c.205T>A (p.Leu69Met)
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>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)

Number of alleles fetched