Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATCCA2155954756SERPINA1c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=)
c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=)
14g.94382740_94382769delCA7327484SERPINA1c.469_498del (p.Asp157_Ala166del)
c.211_240del (p.Asp71_Ala80del)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382745C>ACA390849624SERPINA1c.493G>T (p.Glu165Ter)
c.235G>T (p.Glu79Ter)
14g.94382745C>GCA390849625SERPINA1c.493G>C (p.Glu165Gln)
c.235G>C (p.Glu79Gln)
 COSMIC
14g.94382745C>TCA390849626SERPINA1c.493G>A (p.Glu165Lys)
c.235G>A (p.Glu79Lys)
14g.94382746T>ACA487622052SERPINA1c.492A>T (p.Ser164=)
c.234A>T (p.Ser78=)
14g.94382746T>CCA487622054SERPINA1c.492A>G (p.Ser164=)
c.234A>G (p.Ser78=)
 gnomAD v4
14g.94382746T>GCA487622053SERPINA1c.492A>C (p.Ser164=)
c.234A>C (p.Ser78=)
14g.94382747G>ACA390849715SERPINA1c.491C>T (p.Ser164Leu)
c.233C>T (p.Ser78Leu)
 gnomAD v4
14g.94382747G>CCA390849719SERPINA1c.491C>G (p.Ser164Ter)
c.233C>G (p.Ser78Ter)
14g.94382747G>TCA390849717SERPINA1c.491C>A (p.Ser164Ter)
c.233C>A (p.Ser78Ter)
 COSMIC
14g.94382748A=CA2155954758SERPINA1c.490T= (p.Ser164=)
c.232T= (p.Ser78=)
14g.94382748A>CCA390849720SERPINA1c.490T>G (p.Ser164Ala)
c.232T>G (p.Ser78Ala)
14g.94382748A>GCA265864120SERPINA1c.490T>C (p.Ser164Pro)
c.232T>C (p.Ser78Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.94382748A>TCA390849723SERPINA1c.490T>A (p.Ser164Thr)
c.232T>A (p.Ser78Thr)
14g.94382749G>ACA487841009SERPINA1c.489C>T (p.His163=)
c.231C>T (p.His77=)
14g.94382749G>CCA390849725SERPINA1c.489C>G (p.His163Gln)
c.231C>G (p.His77Gln)
14g.94382749G>TCA390849726SERPINA1c.489C>A (p.His163Gln)
c.231C>A (p.His77Gln)
14g.94382750T>ACA390849727SERPINA1c.488A>T (p.His163Leu)
c.230A>T (p.His77Leu)
 gnomAD v4
14g.94382750T>CCA390849728SERPINA1c.488A>G (p.His163Arg)
c.230A>G (p.His77Arg)
 gnomAD v4
14g.94382750T>GCA390849730SERPINA1c.488A>C (p.His163Pro)
c.230A>C (p.His77Pro)
14g.94382751G>ACA390849731SERPINA1c.487C>T (p.His163Tyr)
c.229C>T (p.His77Tyr)
 gnomAD v4
14g.94382751G>CCA390849733SERPINA1c.487C>G (p.His163Asp)
c.229C>G (p.His77Asp)
14g.94382751G>TCA390849735SERPINA1c.487C>A (p.His163Asn)
c.229C>A (p.His77Asn)
14g.94382752G>ACA487841010SERPINA1c.486C>T (p.Tyr162=)
c.228C>T (p.Tyr76=)
14g.94382752G>CCA390849736SERPINA1c.486C>G (p.Tyr162Ter)
c.228C>G (p.Tyr76Ter)
14g.94382752G>TCA390849738SERPINA1c.486C>A (p.Tyr162Ter)
c.228C>A (p.Tyr76Ter)
14g.94382753T>ACA390849740SERPINA1c.485A>T (p.Tyr162Phe)
c.227A>T (p.Tyr76Phe)
14g.94382753T>CCA390849743SERPINA1c.485A>G (p.Tyr162Cys)
c.227A>G (p.Tyr76Cys)
14g.94382753T>GCA390849741SERPINA1c.485A>C (p.Tyr162Ser)
c.227A>C (p.Tyr76Ser)
14g.94382754A>CCA390849745SERPINA1c.484T>G (p.Tyr162Asp)
c.226T>G (p.Tyr76Asp)
14g.94382754A>GCA390849746SERPINA1c.484T>C (p.Tyr162His)
c.226T>C (p.Tyr76His)
14g.94382754A>TCA390849748SERPINA1c.484T>A (p.Tyr162Asn)
c.226T>A (p.Tyr76Asn)
14g.94382755C>ACA390849750SERPINA1c.483G>T (p.Leu161Phe)
c.225G>T (p.Leu75Phe)
 dbSNP gnomAD v4
14g.94382755C=CA2155954759SERPINA1c.483G= (p.Leu161=)
c.225G= (p.Leu75=)
14g.94382755C>GCA390849752SERPINA1c.483G>C (p.Leu161Phe)
c.225G>C (p.Leu75Phe)
 gnomAD v4
14g.94382755C>TCA265864121SERPINA1c.483G>A (p.Leu161=)
c.225G>A (p.Leu75=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94382756A>CCA390849754SERPINA1c.482T>G (p.Leu161Trp)
c.224T>G (p.Leu75Trp)
 gnomAD v4
14g.94382756A>GCA390849755SERPINA1c.482T>C (p.Leu161Ser)
c.224T>C (p.Leu75Ser)
14g.94382756A>TCA390849757SERPINA1c.482T>A (p.Leu161Ter)
c.224T>A (p.Leu75Ter)
14g.94382757A>CCA390849758SERPINA1c.481T>G (p.Leu161Val)
c.223T>G (p.Leu75Val)
14g.94382757A>GCA487841013SERPINA1c.481T>C (p.Leu161=)
c.223T>C (p.Leu75=)
 ClinVar gnomAD v4
14g.94382757A>TCA390849760SERPINA1c.481T>A (p.Leu161Met)
c.223T>A (p.Leu75Met)
14g.94382758delCA2695199866SERPINA1c.480del (p.Lys160AsnfsTer?)
c.222del (p.Lys74AsnfsTer?)
 ClinVar
14g.94382758C>ACA390849762SERPINA1c.480G>T (p.Lys160Asn)
c.222G>T (p.Lys74Asn)
14g.94382758C>GCA390849763SERPINA1c.480G>C (p.Lys160Asn)
c.222G>C (p.Lys74Asn)
 gnomAD v4
14g.94382758C>TCA487841016SERPINA1c.480G>A (p.Lys160=)
c.222G>A (p.Lys74=)
14g.94382759T>ACA390849764SERPINA1c.479A>T (p.Lys160Met)
c.221A>T (p.Lys74Met)
14g.94382759T>CCA390849768SERPINA1c.479A>G (p.Lys160Arg)
c.221A>G (p.Lys74Arg)
14g.94382759T>GCA390849766SERPINA1c.479A>C (p.Lys160Thr)
c.221A>C (p.Lys74Thr)
 dbSNP
14g.94382759T=CA2155954760SERPINA1c.479A= (p.Lys160=)
c.221A= (p.Lys74=)
14g.94382763dupCA645582240SERPINA1c.479dup (p.Leu161ValfsTer?)
c.221dup (p.Leu75ValfsTer?)
 COSMIC
14g.94382763delCA645582239SERPINA1c.479del (p.Lys160SerfsTer?)
c.221del (p.Lys74SerfsTer?)
 COSMIC
14g.94382760T>ACA390849770SERPINA1c.478A>T (p.Lys160Ter)
c.220A>T (p.Lys74Ter)
14g.94382760T>CCA390849771SERPINA1c.478A>G (p.Lys160Glu)
c.220A>G (p.Lys74Glu)
14g.94382760T>GCA390849772SERPINA1c.478A>C (p.Lys160Gln)
c.220A>C (p.Lys74Gln)
 dbSNP
14g.94382760T=CA2155954761SERPINA1c.478A= (p.Lys160=)
c.220A= (p.Lys74=)
14g.94382761T>ACA390849774SERPINA1c.477A>T (p.Lys159Asn)
c.219A>T (p.Lys73Asn)
14g.94382761T>CCA7327485SERPINA1c.477A>G (p.Lys159=)
c.219A>G (p.Lys73=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382761T>GCA390849776SERPINA1c.477A>C (p.Lys159Asn)
c.219A>C (p.Lys73Asn)
14g.94382761T=CA2155954762SERPINA1c.477A= (p.Lys159=)
c.219A= (p.Lys73=)
14g.94382762T>ACA390849777SERPINA1c.476A>T (p.Lys159Ile)
c.218A>T (p.Lys73Ile)
14g.94382762T>CCA390849779SERPINA1c.476A>G (p.Lys159Arg)
c.218A>G (p.Lys73Arg)
14g.94382762T>GCA390849781SERPINA1c.476A>C (p.Lys159Thr)
c.218A>C (p.Lys73Thr)
14g.94382763T>ACA390849783SERPINA1c.475A>T (p.Lys159Ter)
c.217A>T (p.Lys73Ter)
 ClinVar
14g.94382763T>CCA390849784SERPINA1c.475A>G (p.Lys159Glu)
c.217A>G (p.Lys73Glu)
14g.94382763T>GCA390849785SERPINA1c.475A>C (p.Lys159Gln)
c.217A>C (p.Lys73Gln)
14g.94382764A>CCA487841022SERPINA1c.474T>G (p.Val158=)
c.216T>G (p.Val72=)
14g.94382764A>GCA487841023SERPINA1c.474T>C (p.Val158=)
c.216T>C (p.Val72=)
14g.94382764A>TCA487841024SERPINA1c.474T>A (p.Val158=)
c.216T>A (p.Val72=)
14g.94382765A>CCA390849791SERPINA1c.473T>G (p.Val158Gly)
c.215T>G (p.Val72Gly)
14g.94382765A>GCA390849787SERPINA1c.473T>C (p.Val158Ala)
c.215T>C (p.Val72Ala)
14g.94382765A>TCA390849789SERPINA1c.473T>A (p.Val158Asp)
c.215T>A (p.Val72Asp)
14g.94382766C>ACA7327486SERPINA1c.472G>T (p.Val158Phe)
c.214G>T (p.Val72Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382766C=CA2155954763SERPINA1c.472G= (p.Val158=)
c.214G= (p.Val72=)
14g.94382766C>GCA390849792SERPINA1c.472G>C (p.Val158Leu)
c.214G>C (p.Val72Leu)
14g.94382766C>TCA390849794SERPINA1c.472G>A (p.Val158Ile)
c.214G>A (p.Val72Ile)
 gnomAD v4
14g.94382767A=CA2155954764SERPINA1c.471T= (p.Asp157=)
c.213T= (p.Asp71=)
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)
 dbSNP gnomAD v3 gnomAD v4
14g.94382768T>ACA390849799SERPINA1c.470A>T (p.Asp157Val)
c.212A>T (p.Asp71Val)
 ClinVar dbSNP gnomAD v4
14g.94382768T>CCA7327487SERPINA1c.470A>G (p.Asp157Gly)
c.212A>G (p.Asp71Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382768T>GCA390849802SERPINA1c.470A>C (p.Asp157Ala)
c.212A>C (p.Asp71Ala)
14g.94382768T=CA2155954765SERPINA1c.470A= (p.Asp157=)
c.212A= (p.Asp71=)
14g.94382769C>ACA390849803SERPINA1c.469G>T (p.Asp157Tyr)
c.211G>T (p.Asp71Tyr)
c.469G>T
14g.94382769C=CA2155954766SERPINA1c.469G= (p.Asp157=)
c.211G= (p.Asp71=)
c.469G=
14g.94382769C>GCA390849805SERPINA1c.469G>C (p.Asp157His)
c.211G>C (p.Asp71His)
c.469G>C
14g.94382769C>TCA390849806SERPINA1c.469G>A (p.Asp157Asn)
c.211G>A (p.Asp71Asn)
c.469G>A
 ClinVar dbSNP
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=CA2155954767SERPINA1c.466G= (p.Glu156=)
c.208G= (p.Glu70=)
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 v2 gnomAD v3 gnomAD v4
14g.94382773C>ACA390849819SERPINA1c.465G>T (p.Leu155Phe)
c.207G>T (p.Leu69Phe)
14g.94382773C=CA2155954768SERPINA1c.465G= (p.Leu155=)
c.207G= (p.Leu69=)
14g.94382773C>GCA390849821SERPINA1c.465G>C (p.Leu155Phe)
c.207G>C (p.Leu69Phe)
 gnomAD v4
14g.94382773C>TCA487841034SERPINA1c.465G>A (p.Leu155=)
c.207G>A (p.Leu69=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382773_94382774delinsCACA2155954769SERPINA1c.464_465delinsTG (p.Leu155=)
c.206_207delinsTG (p.Leu69=)
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.94382778delCA7327489SERPINA1c.464del (p.Leu155TrpfsTer?)
c.206del (p.Leu69TrpfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382775A=CA2155954770SERPINA1c.463T= (p.Leu155=)
c.205T= (p.Leu69=)
14g.94382775A>CCA390849830SERPINA1c.463T>G (p.Leu155Val)
c.205T>G (p.Leu69Val)
14g.94382775A>GCA7327490SERPINA1c.463T>C (p.Leu155=)
c.205T>C (p.Leu69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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=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)
14g.94382789A>GCA390849877SERPINA1c.449T>C (p.Leu150Pro)
c.191T>C (p.Leu64Pro)
 dbSNP gnomAD v2 gnomAD v4
14g.94382789A>TCA390849879SERPINA1c.449T>A (p.Leu150Gln)
c.191T>A (p.Leu64Gln)
14g.94382790G>ACA487841047SERPINA1c.448C>T (p.Leu150=)
c.190C>T (p.Leu64=)
 dbSNP gnomAD v2 gnomAD v4
14g.94382790G>CCA390849880SERPINA1c.448C>G (p.Leu150Val)
c.190C>G (p.Leu64Val)
14g.94382790G=CA2155954779SERPINA1c.448C= (p.Leu150=)
c.190C= (p.Leu64=)
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=CA2155954780SERPINA1c.447G= (p.Lys149=)
c.189G= (p.Lys63=)
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 v2 gnomAD v3 gnomAD v4
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)
14g.94382794C>ACA487841049SERPINA1c.444G>T (p.Leu148=)
c.186G>T (p.Leu62=)
14g.94382794C>GCA487841051SERPINA1c.444G>C (p.Leu148=)
c.186G>C (p.Leu62=)
14g.94382794C>TCA487841052SERPINA1c.444G>A (p.Leu148=)
c.186G>A (p.Leu62=)
 gnomAD v4 COSMIC
14g.94382795A>CCA390849895SERPINA1c.443T>G (p.Leu148Arg)
c.185T>G (p.Leu62Arg)
14g.94382795A>GCA390849897SERPINA1c.443T>C (p.Leu148Pro)
c.185T>C (p.Leu62Pro)
14g.94382795A>TCA390849899SERPINA1c.443T>A (p.Leu148Gln)
c.185T>A (p.Leu62Gln)
14g.94382796G>ACA487841053SERPINA1c.442C>T (p.Leu148=)
c.184C>T (p.Leu62=)
14g.94382796G>CCA390849900SERPINA1c.442C>G (p.Leu148Val)
c.184C>G (p.Leu62Val)
14g.94382796G>TCA390849902SERPINA1c.442C>A (p.Leu148Met)
c.184C>A (p.Leu62Met)
14g.94382797G>ACA487841057SERPINA1c.441C>T (p.Gly147=)
c.183C>T (p.Gly61=)
14g.94382797G>CCA487841056SERPINA1c.441C>G (p.Gly147=)
c.183C>G (p.Gly61=)
 ClinVar
14g.94382797G>TCA487841055SERPINA1c.441C>A (p.Gly147=)
c.183C>A (p.Gly61=)
14g.94382798C>ACA390849904SERPINA1c.440G>T (p.Gly147Val)
c.182G>T (p.Gly61Val)
 gnomAD v4
14g.94382798C>GCA390849905SERPINA1c.440G>C (p.Gly147Ala)
c.182G>C (p.Gly61Ala)
14g.94382798C>TCA390849906SERPINA1c.440G>A (p.Gly147Asp)
c.182G>A (p.Gly61Asp)
14g.94382799C>ACA390849907SERPINA1c.439G>T (p.Gly147Cys)
c.181G>T (p.Gly61Cys)
14g.94382799C>GCA390849909SERPINA1c.439G>C (p.Gly147Arg)
c.181G>C (p.Gly61Arg)
14g.94382799C>TCA390849911SERPINA1c.439G>A (p.Gly147Ser)
c.181G>A (p.Gly61Ser)
14g.94382800C>ACA390849912SERPINA1c.438G>T (p.Glu146Asp)
c.180G>T (p.Glu60Asp)
14g.94382800C>GCA390849914SERPINA1c.438G>C (p.Glu146Asp)
c.180G>C (p.Glu60Asp)
14g.94382800C>TCA487841058SERPINA1c.438G>A (p.Glu146=)
c.180G>A (p.Glu60=)
14g.94382801T>ACA390849916SERPINA1c.437A>T (p.Glu146Val)
c.179A>T (p.Glu60Val)
14g.94382801T>CCA390849917SERPINA1c.437A>G (p.Glu146Gly)
c.179A>G (p.Glu60Gly)
14g.94382801T>GCA390849919SERPINA1c.437A>C (p.Glu146Ala)
c.179A>C (p.Glu60Ala)
14g.94382802C>ACA390849921SERPINA1c.436G>T (p.Glu146Ter)
c.178G>T (p.Glu60Ter)
14g.94382802C=CA2155954781SERPINA1c.436G= (p.Glu146=)
c.178G= (p.Glu60=)
14g.94382802C>GCA390849922SERPINA1c.436G>C (p.Glu146Gln)
c.178G>C (p.Glu60Gln)
14g.94382802C>TCA7327497SERPINA1c.436G>A (p.Glu146Lys)
c.178G>A (p.Glu60Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382803G>ACA265864133SERPINA1c.435C>T (p.Ser145=)
c.177C>T (p.Ser59=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382803G>CCA390849925SERPINA1c.435C>G (p.Ser145Arg)
c.177C>G (p.Ser59Arg)
14g.94382803G=CA2155954782SERPINA1c.435C= (p.Ser145=)
c.177C= (p.Ser59=)
14g.94382803G>TCA265864131SERPINA1c.435C>A (p.Ser145Arg)
c.177C>A (p.Ser59Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.94382804C>ACA390849927SERPINA1c.434G>T (p.Ser145Ile)
c.176G>T (p.Ser59Ile)
c.434G>T
14g.94382804C=CA2155954783SERPINA1c.434G= (p.Ser145=)
c.176G= (p.Ser59=)
c.434G=
14g.94382804C>GCA390849928SERPINA1c.434G>C (p.Ser145Thr)
c.176G>C (p.Ser59Thr)
c.434G>C
14g.94382804C>TCA390849930SERPINA1c.434G>A (p.Ser145Asn)
c.176G>A (p.Ser59Asn)
c.434G>A
 dbSNP gnomAD v4
14g.94382805T>ACA390849931SERPINA1c.433A>T (p.Ser145Cys)
c.175A>T (p.Ser59Cys)
c.433A>T
14g.94382805T>CCA390849933SERPINA1c.433A>G (p.Ser145Gly)
c.175A>G (p.Ser59Gly)
c.433A>G
14g.94382805T>GCA390849934SERPINA1c.433A>C (p.Ser145Arg)
c.175A>C (p.Ser59Arg)
c.433A>C
14g.94382806G>ACA487841061SERPINA1c.432C>T (p.Leu144=)
c.174C>T (p.Leu58=)
14g.94382806G>CCA487841062SERPINA1c.432C>G (p.Leu144=)
c.174C>G (p.Leu58=)
14g.94382806G>TCA487841063SERPINA1c.432C>A (p.Leu144=)
c.174C>A (p.Leu58=)
14g.94382807A>CCA390849936SERPINA1c.431T>G (p.Leu144Arg)
c.173T>G (p.Leu58Arg)
14g.94382807A>GCA390849938SERPINA1c.431T>C (p.Leu144Pro)
c.173T>C (p.Leu58Pro)
14g.94382807A>TCA390849940SERPINA1c.431T>A (p.Leu144His)
c.173T>A (p.Leu58His)
14g.94382808G>ACA7327498SERPINA1c.430C>T (p.Leu144Phe)
c.172C>T (p.Leu58Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382808G>CCA390849942SERPINA1c.430C>G (p.Leu144Val)
c.172C>G (p.Leu58Val)
14g.94382808G=CA2155954784SERPINA1c.430C= (p.Leu144=)
c.172C= (p.Leu58=)
14g.94382808G>TCA390849944SERPINA1c.430C>A (p.Leu144Ile)
c.172C>A (p.Leu58Ile)
14g.94382809G>ACA487841068SERPINA1c.429C>T (p.Phe143=)
c.171C>T (p.Phe57=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382809G>CCA7327499SERPINA1c.429C>G (p.Phe143Leu)
c.171C>G (p.Phe57Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382809G=CA2155954785SERPINA1c.429C= (p.Phe143=)
c.171C= (p.Phe57=)
14g.94382809G>TCA390849945SERPINA1c.429C>A (p.Phe143Leu)
c.171C>A (p.Phe57Leu)
14g.94382810A=CA2155954786SERPINA1c.428T= (p.Phe143=)
c.170T= (p.Phe57=)
14g.94382810A>CCA390849948SERPINA1c.428T>G (p.Phe143Cys)
c.170T>G (p.Phe57Cys)
14g.94382810A>GCA390849951SERPINA1c.428T>C (p.Phe143Ser)
c.170T>C (p.Phe57Ser)
 gnomAD v4
14g.94382810A>TCA390849949SERPINA1c.428T>A (p.Phe143Tyr)
c.170T>A (p.Phe57Tyr)
 dbSNP gnomAD v3 gnomAD v4
14g.94382811A>CCA390849953SERPINA1c.427T>G (p.Phe143Val)
c.169T>G (p.Phe57Val)
14g.94382811A>GCA390849954SERPINA1c.427T>C (p.Phe143Leu)
c.169T>C (p.Phe57Leu)
14g.94382811A>TCA390849956SERPINA1c.427T>A (p.Phe143Ile)
c.169T>A (p.Phe57Ile)
14g.94382812C>ACA487841070SERPINA1c.426G>T (p.Leu142=)
c.168G>T (p.Leu56=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382812C=CA2155954787SERPINA1c.426G= (p.Leu142=)
c.168G= (p.Leu56=)
14g.94382812C>GCA487841071SERPINA1c.426G>C (p.Leu142=)
c.168G>C (p.Leu56=)
14g.94382812C>TCA7327500SERPINA1c.426G>A (p.Leu142=)
c.168G>A (p.Leu56=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382813A>CCA390849958SERPINA1c.425T>G (p.Leu142Arg)
c.167T>G (p.Leu56Arg)
14g.94382813A>GCA390849960SERPINA1c.425T>C (p.Leu142Pro)
c.167T>C (p.Leu56Pro)
14g.94382813A>TCA390849962SERPINA1c.425T>A (p.Leu142Gln)
c.167T>A (p.Leu56Gln)
 gnomAD v4
14g.94382814G>ACA183072SERPINA1c.424C>T (p.Leu142=)
c.166C>T (p.Leu56=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382814G>CCA390849964SERPINA1c.424C>G (p.Leu142Val)
c.166C>G (p.Leu56Val)
14g.94382814G=CA2155954788SERPINA1c.424C= (p.Leu142=)
c.166C= (p.Leu56=)
14g.94382814G>TCA390849965SERPINA1c.424C>A (p.Leu142Met)
c.166C>A (p.Leu56Met)
14g.94382815G>ACA7327501SERPINA1c.423C>T (p.Gly141=)
c.165C>T (p.Gly55=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382815G>CCA487841073SERPINA1c.423C>G (p.Gly141=)
c.165C>G (p.Gly55=)
14g.94382815G=CA2155954789SERPINA1c.423C= (p.Gly141=)
c.165C= (p.Gly55=)
14g.94382815G>TCA487841074SERPINA1c.423C>A (p.Gly141=)
c.165C>A (p.Gly55=)
 ClinVar
14g.94382816C>ACA390849970SERPINA1c.422G>T (p.Gly141Val)
c.164G>T (p.Gly55Val)
 gnomAD v4
14g.94382816C>GCA390849969SERPINA1c.422G>C (p.Gly141Ala)
c.164G>C (p.Gly55Ala)
14g.94382816C>TCA390849968SERPINA1c.422G>A (p.Gly141Asp)
c.164G>A (p.Gly55Asp)
14g.94382817C>ACA390849972SERPINA1c.421G>T (p.Gly141Cys)
c.163G>T (p.Gly55Cys)
14g.94382817C>GCA390849973SERPINA1c.421G>C (p.Gly141Arg)
c.163G>C (p.Gly55Arg)
14g.94382817C>TCA390849975SERPINA1c.421G>A (p.Gly141Ser)
c.163G>A (p.Gly55Ser)
14g.94382818A=CA2155954790SERPINA1c.420T= (p.Asn140=)
c.162T= (p.Asn54=)
14g.94382818A>CCA390849977SERPINA1c.420T>G (p.Asn140Lys)
c.162T>G (p.Asn54Lys)
14g.94382818A>GCA265864136SERPINA1c.420T>C (p.Asn140=)
c.162T>C (p.Asn54=)
 dbSNP
14g.94382818A>TCA390849979SERPINA1c.420T>A (p.Asn140Lys)
c.162T>A (p.Asn54Lys)
14g.94382819T>ACA390849980SERPINA1c.419A>T (p.Asn140Ile)
c.161A>T (p.Asn54Ile)
14g.94382819T>CCA390849982SERPINA1c.419A>G (p.Asn140Ser)
c.161A>G (p.Asn54Ser)
14g.94382819T>GCA390849983SERPINA1c.419A>C (p.Asn140Thr)
c.161A>C (p.Asn54Thr)
14g.94382820T>ACA390849985SERPINA1c.418A>T (p.Asn140Tyr)
c.160A>T (p.Asn54Tyr)
14g.94382820T>CCA390849987SERPINA1c.418A>G (p.Asn140Asp)
c.160A>G (p.Asn54Asp)
14g.94382820T>GCA390849988SERPINA1c.418A>C (p.Asn140His)
c.160A>C (p.Asn54His)
14g.94382821G>ACA265864138SERPINA1c.417C>T (p.Gly139=)
c.159C>T (p.Gly53=)
 dbSNP
14g.94382821G>CCA487841075SERPINA1c.417C>G (p.Gly139=)
c.159C>G (p.Gly53=)
14g.94382821G=CA2155954791SERPINA1c.417C= (p.Gly139=)
c.159C= (p.Gly53=)
14g.94382821G>TCA487841077SERPINA1c.417C>A (p.Gly139=)
c.159C>A (p.Gly53=)
14g.94382822C>ACA390849992SERPINA1c.416G>T (p.Gly139Val)
c.158G>T (p.Gly53Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382822C=CA2155954792SERPINA1c.416G= (p.Gly139=)
c.158G= (p.Gly53=)
14g.94382822C>GCA7327502SERPINA1c.416G>C (p.Gly139Ala)
c.158G>C (p.Gly53Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382822C>TCA390849989SERPINA1c.416G>A (p.Gly139Asp)
c.158G>A (p.Gly53Asp)
 dbSNP gnomAD v4
14g.94382823C>ACA390849993SERPINA1c.415G>T (p.Gly139Cys)
c.157G>T (p.Gly53Cys)
 ClinVar
14g.94382823C=CA2155954793SERPINA1c.415G= (p.Gly139=)
c.157G= (p.Gly53=)
14g.94382823C>GCA390849995SERPINA1c.415G>C (p.Gly139Arg)
c.157G>C (p.Gly53Arg)
14g.94382823C>TCA127734SERPINA1c.415G>A (p.Gly139Ser)
c.157G>A (p.Gly53Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382824G>ACA7327503SERPINA1c.414C>T (p.Thr138=)
c.156C>T (p.Thr52=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382824G>CCA487841081SERPINA1c.414C>G (p.Thr138=)
c.156C>G (p.Thr52=)
14g.94382824G=CA2155954794SERPINA1c.414C= (p.Thr138=)
c.156C= (p.Thr52=)
14g.94382824G>TCA487841083SERPINA1c.414C>A (p.Thr138=)
c.156C>A (p.Thr52=)
14g.94382825G>ACA390849998SERPINA1c.413C>T (p.Thr138Ile)
c.155C>T (p.Thr52Ile)
14g.94382825G>CCA390850000SERPINA1c.413C>G (p.Thr138Ser)
c.155C>G (p.Thr52Ser)
14g.94382825G>TCA390850001SERPINA1c.413C>A (p.Thr138Asn)
c.155C>A (p.Thr52Asn)
14g.94382826T>ACA390850003SERPINA1c.412A>T (p.Thr138Ser)
c.154A>T (p.Thr52Ser)
14g.94382826T>CCA390850005SERPINA1c.412A>G (p.Thr138Ala)
c.154A>G (p.Thr52Ala)
14g.94382826T>GCA390850006SERPINA1c.412A>C (p.Thr138Pro)
c.154A>C (p.Thr52Pro)
14g.94382827G>ACA487841085SERPINA1c.411C>T (p.Thr137=)
c.153C>T (p.Thr51=)
14g.94382827G>CCA487841086SERPINA1c.411C>G (p.Thr137=)
c.153C>G (p.Thr51=)
 ClinVar dbSNP gnomAD v4
14g.94382827G=CA2155954795SERPINA1c.411C= (p.Thr137=)
c.153C= (p.Thr51=)
14g.94382827G>TCA487841087SERPINA1c.411C>A (p.Thr137=)
c.153C>A (p.Thr51=)
 gnomAD v4
14g.94382828G>ACA390850008SERPINA1c.410C>T (p.Thr137Ile)
c.152C>T (p.Thr51Ile)
14g.94382828G>CCA7327504SERPINA1c.410C>G (p.Thr137Ser)
c.152C>G (p.Thr51Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382828G=CA2155954796SERPINA1c.410C= (p.Thr137=)
c.152C= (p.Thr51=)
14g.94382828G>TCA390850010SERPINA1c.410C>A (p.Thr137Asn)
c.152C>A (p.Thr51Asn)
14g.94382829T>ACA390850014SERPINA1c.409A>T (p.Thr137Ser)
c.151A>T (p.Thr51Ser)
14g.94382829T>CCA390850012SERPINA1c.409A>G (p.Thr137Ala)
c.151A>G (p.Thr51Ala)
14g.94382829T>GCA390850013SERPINA1c.409A>C (p.Thr137Pro)
c.151A>C (p.Thr51Pro)
14g.94382830C>ACA487841089SERPINA1c.408G>T (p.Leu136=)
c.150G>T (p.Leu50=)
14g.94382830C>GCA487841093SERPINA1c.408G>C (p.Leu136=)
c.150G>C (p.Leu50=)
14g.94382830C>TCA487841091SERPINA1c.408G>A (p.Leu136=)
c.150G>A (p.Leu50=)
14g.94382831A=CA2155954797SERPINA1c.407T= (p.Leu136=)
c.149T= (p.Leu50=)
14g.94382831A>CCA390850015SERPINA1c.407T>G (p.Leu136Arg)
c.149T>G (p.Leu50Arg)
 dbSNP
14g.94382831A>GCA390850016SERPINA1c.407T>C (p.Leu136Pro)
c.149T>C (p.Leu50Pro)
 gnomAD v4
14g.94382831A>TCA390850017SERPINA1c.407T>A (p.Leu136Gln)
c.149T>A (p.Leu50Gln)
14g.94382832G>ACA487841095SERPINA1c.406C>T (p.Leu136=)
c.148C>T (p.Leu50=)
14g.94382832G>CCA390850018SERPINA1c.406C>G (p.Leu136Val)
c.148C>G (p.Leu50Val)
14g.94382832G>TCA390850019SERPINA1c.406C>A (p.Leu136Met)
c.148C>A (p.Leu50Met)
14g.94382833C>ACA390850020SERPINA1c.405G>T (p.Gln135His)
c.147G>T (p.Gln49His)
 dbSNP
14g.94382833C=CA2155954798SERPINA1c.405G= (p.Gln135=)
c.147G= (p.Gln49=)
14g.94382833C>GCA390850022SERPINA1c.405G>C (p.Gln135His)
c.147G>C (p.Gln49His)
14g.94382833C>TCA487841096SERPINA1c.405G>A (p.Gln135=)
c.147G>A (p.Gln49=)
14g.94382834T>ACA390850024SERPINA1c.404A>T (p.Gln135Leu)
c.146A>T (p.Gln49Leu)
14g.94382834T>CCA390850026SERPINA1c.404A>G (p.Gln135Arg)
c.146A>G (p.Gln49Arg)
14g.94382834T>GCA390850027SERPINA1c.404A>C (p.Gln135Pro)
c.146A>C (p.Gln49Pro)
14g.94382835G>ACA390850029SERPINA1c.403C>T (p.Gln135Ter)
c.145C>T (p.Gln49Ter)
 ClinVar
14g.94382835G>CCA390850031SERPINA1c.403C>G (p.Gln135Glu)
c.145C>G (p.Gln49Glu)
14g.94382835G>TCA390850033SERPINA1c.403C>A (p.Gln135Lys)
c.145C>A (p.Gln49Lys)
14g.94382836G>ACA487841099SERPINA1c.402C>T (p.Leu134=)
c.144C>T (p.Leu48=)
14g.94382836G>CCA487841100SERPINA1c.402C>G (p.Leu134=)
c.144C>G (p.Leu48=)
 dbSNP gnomAD v4
14g.94382836G=CA2155954799SERPINA1c.402C= (p.Leu134=)
c.144C= (p.Leu48=)
14g.94382836G>TCA487841101SERPINA1c.402C>A (p.Leu134=)
c.144C>A (p.Leu48=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382837A=CA2155954800SERPINA1c.401T= (p.Leu134=)
c.143T= (p.Leu48=)
14g.94382837A>CCA390850036SERPINA1c.401T>G (p.Leu134Arg)
c.143T>G (p.Leu48Arg)
14g.94382837A>GCA7327505SERPINA1c.401T>C (p.Leu134Pro)
c.143T>C (p.Leu48Pro)
 dbSNP ExAC
14g.94382837A>TCA390850035SERPINA1c.401T>A (p.Leu134His)
c.143T>A (p.Leu48His)
14g.94382838G>ACA390850037SERPINA1c.400C>T (p.Leu134Phe)
c.142C>T (p.Leu48Phe)
14g.94382838G>CCA390850040SERPINA1c.400C>G (p.Leu134Val)
c.142C>G (p.Leu48Val)
14g.94382838G=CA2155954802SERPINA1c.400C= (p.Leu134=)
c.142C= (p.Leu48=)
14g.94382838G>TCA390850039SERPINA1c.400C>A (p.Leu134Ile)
c.142C>A (p.Leu48Ile)
 dbSNP
14g.94382838_94382839delinsGCCA2155954801SERPINA1c.399_400delinsGC (p.Gln133=)
c.141_142delinsGC (p.Gln47=)
14g.94382839delCA616114864SERPINA1c.399del (p.Gln133HisfsTer4)
c.141del (p.Gln47HisfsTer4)
 dbSNP gnomAD v2 gnomAD v4
14g.94382839C>ACA390850042SERPINA1c.399G>T (p.Gln133His)
c.141G>T (p.Gln47His)
14g.94382839C=CA2155954803SERPINA1c.399G= (p.Gln133=)
c.141G= (p.Gln47=)
14g.94382839C>GCA390850044SERPINA1c.399G>C (p.Gln133His)
c.141G>C (p.Gln47His)
14g.94382839C>TCA487841105SERPINA1c.399G>A (p.Gln133=)
c.141G>A (p.Gln47=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382840T>ACA390850045SERPINA1c.398A>T (p.Gln133Leu)
c.140A>T (p.Gln47Leu)
14g.94382840T>CCA390850047SERPINA1c.398A>G (p.Gln133Arg)
c.140A>G (p.Gln47Arg)
14g.94382840T>GCA390850048SERPINA1c.398A>C (p.Gln133Pro)
c.140A>C (p.Gln47Pro)
14g.94382841G>ACA390850050SERPINA1c.397C>T (p.Gln133Ter)
c.139C>T (p.Gln47Ter)
14g.94382841G>CCA390850052SERPINA1c.397C>G (p.Gln133Glu)
c.139C>G (p.Gln47Glu)
14g.94382841G>TCA390850053SERPINA1c.397C>A (p.Gln133Lys)
c.139C>A (p.Gln47Lys)
14g.94382842G>ACA487841108SERPINA1c.396C>T (p.Ser132=)
c.138C>T (p.Ser46=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94382842G>CCA390850055SERPINA1c.396C>G (p.Ser132Arg)
c.138C>G (p.Ser46Arg)
 gnomAD v4
14g.94382842G=CA2155954804SERPINA1c.396C= (p.Ser132=)
c.138C= (p.Ser46=)
14g.94382842G>TCA390850056SERPINA1c.396C>A (p.Ser132Arg)
c.138C>A (p.Ser46Arg)
 gnomAD v4
14g.94382843C>ACA390850058SERPINA1c.395G>T (p.Ser132Ile)
c.137G>T (p.Ser46Ile)
14g.94382843C=CA2155954805SERPINA1c.395G= (p.Ser132=)
c.137G= (p.Ser46=)
14g.94382843C>GCA390850059SERPINA1c.395G>C (p.Ser132Thr)
c.137G>C (p.Ser46Thr)
14g.94382843C>TCA390850061SERPINA1c.395G>A (p.Ser132Asn)
c.137G>A (p.Ser46Asn)
 dbSNP gnomAD v3 gnomAD v4
14g.94382844T>ACA390850063SERPINA1c.394A>T (p.Ser132Cys)
c.136A>T (p.Ser46Cys)
14g.94382844T>CCA390850066SERPINA1c.394A>G (p.Ser132Gly)
c.136A>G (p.Ser46Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.94382844T>GCA390850065SERPINA1c.394A>C (p.Ser132Arg)
c.136A>C (p.Ser46Arg)
14g.94382844T=CA2155954806SERPINA1c.394A= (p.Ser132=)
c.136A= (p.Ser46=)
14g.94382845G>ACA487841110SERPINA1c.393C>T (p.Asp131=)
c.135C>T (p.Asp45=)
 ClinVar dbSNP gnomAD v4
14g.94382845G>CCA390850068SERPINA1c.393C>G (p.Asp131Glu)
c.135C>G (p.Asp45Glu)
14g.94382845G>TCA390850070SERPINA1c.393C>A (p.Asp131Glu)
c.135C>A (p.Asp45Glu)

Number of alleles fetched