Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382676C>ACA390849469SERPINA1c.562G>T (p.Gly188Cys)
c.304G>T (p.Gly102Cys)
14g.94382676C=CA2155954728SERPINA1c.562G= (p.Gly188=)
c.304G= (p.Gly102=)
14g.94382676C>GCA390849470SERPINA1c.562G>C (p.Gly188Arg)
c.304G>C (p.Gly102Arg)
 dbSNP
14g.94382676C>TCA7327469SERPINA1c.562G>A (p.Gly188Ser)
c.304G>A (p.Gly102Ser)
 dbSNP ExAC gnomAD v2
14g.94382677C>ACA390849471SERPINA1c.561G>T (p.Lys187Asn)
c.303G>T (p.Lys101Asn)
14g.94382677C>GCA390849472SERPINA1c.561G>C (p.Lys187Asn)
c.303G>C (p.Lys101Asn)
14g.94382677C>TCA487622014SERPINA1c.561G>A (p.Lys187=)
c.303G>A (p.Lys101=)
 ClinVar
14g.94382678T>ACA390849473SERPINA1c.560A>T (p.Lys187Met)
c.302A>T (p.Lys101Met)
14g.94382678T>CCA390849474SERPINA1c.560A>G (p.Lys187Arg)
c.302A>G (p.Lys101Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382678T>GCA7327470SERPINA1c.560A>C (p.Lys187Thr)
c.302A>C (p.Lys101Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382678T=CA2155954729SERPINA1c.560A= (p.Lys187=)
c.302A= (p.Lys101=)
14g.94382679T>ACA390849476SERPINA1c.559A>T (p.Lys187Ter)
c.301A>T (p.Lys101Ter)
 gnomAD v4
14g.94382679T>CCA390849477SERPINA1c.559A>G (p.Lys187Glu)
c.301A>G (p.Lys101Glu)
14g.94382679T>GCA390849475SERPINA1c.559A>C (p.Lys187Gln)
c.301A>C (p.Lys101Gln)
14g.94382680C>ACA390849479SERPINA1c.558G>T (p.Glu186Asp)
c.300G>T (p.Glu100Asp)
14g.94382680C>GCA390849478SERPINA1c.558G>C (p.Glu186Asp)
c.300G>C (p.Glu100Asp)
14g.94382680C>TCA487622018SERPINA1c.558G>A (p.Glu186=)
c.300G>A (p.Glu100=)
 ClinVar
14g.94382681delCA2695199865SERPINA1c.557del (p.Glu186GlyfsTer24)
c.299del (p.Glu100GlyfsTer?)
 ClinVar
14g.94382681T>ACA390849481SERPINA1c.557A>T (p.Glu186Val)
c.299A>T (p.Glu100Val)
 gnomAD v4
14g.94382681T>CCA265864104SERPINA1c.557A>G (p.Glu186Gly)
c.299A>G (p.Glu100Gly)
 dbSNP
14g.94382681T>GCA390849480SERPINA1c.557A>C (p.Glu186Ala)
c.299A>C (p.Glu100Ala)
14g.94382681T=CA2155954730SERPINA1c.557A= (p.Glu186=)
c.299A= (p.Glu100=)
14g.94382682C>ACA390849482SERPINA1c.556G>T (p.Glu186Ter)
c.298G>T (p.Glu100Ter)
14g.94382682C=CA2155954731SERPINA1c.556G= (p.Glu186=)
c.298G= (p.Glu100=)
14g.94382682C>GCA390849483SERPINA1c.556G>C (p.Glu186Gln)
c.298G>C (p.Glu100Gln)
14g.94382682C>TCA390849484SERPINA1c.556G>A (p.Glu186Lys)
c.298G>A (p.Glu100Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.94382683C>ACA487622019SERPINA1c.555G>T (p.Val185=)
c.297G>T (p.Val99=)
14g.94382683C=CA2155954732SERPINA1c.555G= (p.Val185=)
c.297G= (p.Val99=)
14g.94382683C>GCA487622020SERPINA1c.555G>C (p.Val185=)
c.297G>C (p.Val99=)
14g.94382683C>TCA487622021SERPINA1c.555G>A (p.Val185=)
c.297G>A (p.Val99=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.94382684A>CCA390849485SERPINA1c.554T>G (p.Val185Gly)
c.296T>G (p.Val99Gly)
14g.94382684A>GCA390849486SERPINA1c.554T>C (p.Val185Ala)
c.296T>C (p.Val99Ala)
 COSMIC
14g.94382684A>TCA390849487SERPINA1c.554T>A (p.Val185Glu)
c.296T>A (p.Val99Glu)
14g.94382685C>ACA390849488SERPINA1c.553G>T (p.Val185Leu)
c.295G>T (p.Val99Leu)
14g.94382685C=CA2155954733SERPINA1c.553G= (p.Val185=)
c.295G= (p.Val99=)
14g.94382685C>GCA390849489SERPINA1c.553G>C (p.Val185Leu)
c.295G>C (p.Val99Leu)
 gnomAD v4
14g.94382685C>TCA7327471SERPINA1c.553G>A (p.Val185Met)
c.295G>A (p.Val99Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382685_94382686delinsCGCA2155954734SERPINA1c.552_553delinsCG (p.Tyr184=)
c.294_295delinsCG (p.Tyr98=)
14g.94382686delCA127692SERPINA1c.552del (p.Tyr184Ter)
c.294del (p.Tyr98Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94382686G>ACA7327472SERPINA1c.552C>T (p.Tyr184=)
c.294C>T (p.Tyr98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382686G>CCA274042SERPINA1c.552C>G (p.Tyr184Ter)
c.294C>G (p.Tyr98Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382686G=CA2155954735SERPINA1c.552C= (p.Tyr184=)
c.294C= (p.Tyr98=)
14g.94382686G>TCA7327473SERPINA1c.552C>A (p.Tyr184Ter)
c.294C>A (p.Tyr98Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382687T>ACA390849490SERPINA1c.551A>T (p.Tyr184Phe)
c.293A>T (p.Tyr98Phe)
14g.94382687T>CCA390849491SERPINA1c.551A>G (p.Tyr184Cys)
c.293A>G (p.Tyr98Cys)
14g.94382687T>GCA390849492SERPINA1c.551A>C (p.Tyr184Ser)
c.293A>C (p.Tyr98Ser)
14g.94382688A>CCA390849493SERPINA1c.550T>G (p.Tyr184Asp)
c.292T>G (p.Tyr98Asp)
14g.94382688A>GCA390849494SERPINA1c.550T>C (p.Tyr184His)
c.292T>C (p.Tyr98His)
14g.94382688A>TCA390849495SERPINA1c.550T>A (p.Tyr184Asn)
c.292T>A (p.Tyr98Asn)
14g.94382689A>CCA390849496SERPINA1c.549T>G (p.Asp183Glu)
c.291T>G (p.Asp97Glu)
14g.94382689A>GCA487622022SERPINA1c.549T>C (p.Asp183=)
c.291T>C (p.Asp97=)
 gnomAD v4
14g.94382689A>TCA390849497SERPINA1c.549T>A (p.Asp183Glu)
c.291T>A (p.Asp97Glu)
14g.94382690T>ACA390849498SERPINA1c.548A>T (p.Asp183Val)
c.290A>T (p.Asp97Val)
14g.94382690T>CCA390849499SERPINA1c.548A>G (p.Asp183Gly)
c.290A>G (p.Asp97Gly)
14g.94382690T>GCA390849500SERPINA1c.548A>C (p.Asp183Ala)
c.290A>C (p.Asp97Ala)
14g.94382691C>ACA390849501SERPINA1c.547G>T (p.Asp183Tyr)
c.289G>T (p.Asp97Tyr)
14g.94382691C=CA2155954736SERPINA1c.547G= (p.Asp183=)
c.289G= (p.Asp97=)
14g.94382691C>GCA390849502SERPINA1c.547G>C (p.Asp183His)
c.289G>C (p.Asp97His)
14g.94382691C>TCA7327474SERPINA1c.547G>A (p.Asp183Asn)
c.289G>A (p.Asp97Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382692G>ACA7327475SERPINA1c.546C>T (p.Asn182=)
c.288C>T (p.Asn96=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382692G>CCA390849503SERPINA1c.546C>G (p.Asn182Lys)
c.288C>G (p.Asn96Lys)
14g.94382692G=CA2155954737SERPINA1c.546C= (p.Asn182=)
c.288C= (p.Asn96=)
14g.94382692G>TCA390849504SERPINA1c.546C>A (p.Asn182Lys)
c.288C>A (p.Asn96Lys)
14g.94382693T>ACA390849505SERPINA1c.545A>T (p.Asn182Ile)
c.287A>T (p.Asn96Ile)
14g.94382693T>CCA390849506SERPINA1c.545A>G (p.Asn182Ser)
c.287A>G (p.Asn96Ser)
14g.94382693T>GCA390849507SERPINA1c.545A>C (p.Asn182Thr)
c.287A>C (p.Asn96Thr)
14g.94382694T>ACA390849508SERPINA1c.544A>T (p.Asn182Tyr)
c.286A>T (p.Asn96Tyr)
14g.94382694T>CCA390849509SERPINA1c.544A>G (p.Asn182Asp)
c.286A>G (p.Asn96Asp)
14g.94382694T>GCA390849510SERPINA1c.544A>C (p.Asn182His)
c.286A>C (p.Asn96His)
14g.94382695G>ACA487622023SERPINA1c.543C>T (p.Ile181=)
c.285C>T (p.Ile95=)
14g.94382695G>CCA390849511SERPINA1c.543C>G (p.Ile181Met)
c.285C>G (p.Ile95Met)
14g.94382695G=CA2155954738SERPINA1c.543C= (p.Ile181=)
c.285C= (p.Ile95=)
14g.94382695G>TCA487622024SERPINA1c.543C>A (p.Ile181=)
c.285C>A (p.Ile95=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382696A>CCA390849512SERPINA1c.542T>G (p.Ile181Ser)
c.284T>G (p.Ile95Ser)
14g.94382696A>GCA390849513SERPINA1c.542T>C (p.Ile181Thr)
c.284T>C (p.Ile95Thr)
 ClinVar
14g.94382696A>TCA390849514SERPINA1c.542T>A (p.Ile181Asn)
c.284T>A (p.Ile95Asn)
14g.94382697T>ACA390849517SERPINA1c.541A>T (p.Ile181Phe)
c.283A>T (p.Ile95Phe)
14g.94382697T>CCA390849516SERPINA1c.541A>G (p.Ile181Val)
c.283A>G (p.Ile95Val)
14g.94382697T>GCA390849515SERPINA1c.541A>C (p.Ile181Leu)
c.283A>C (p.Ile95Leu)
14g.94382698C>ACA390849518SERPINA1c.540G>T (p.Gln180His)
c.282G>T (p.Gln94His)
14g.94382698C>GCA390849519SERPINA1c.540G>C (p.Gln180His)
c.282G>C (p.Gln94His)
14g.94382698C>TCA487622025SERPINA1c.540G>A (p.Gln180=)
c.282G>A (p.Gln94=)
14g.94382699delCA2626309969SERPINA1c.539del (p.Gln180ArgfsTer30)
c.281del (p.Gln94ArgfsTer?)
 gnomAD v4
14g.94382699T>ACA390849520SERPINA1c.539A>T (p.Gln180Leu)
c.281A>T (p.Gln94Leu)
14g.94382699T>CCA390849521SERPINA1c.539A>G (p.Gln180Arg)
c.281A>G (p.Gln94Arg)
14g.94382699T>GCA390849522SERPINA1c.539A>C (p.Gln180Pro)
c.281A>C (p.Gln94Pro)
 gnomAD v4
14g.94382700G>ACA348651SERPINA1c.538C>T (p.Gln180Ter)
c.280C>T (p.Gln94Ter)
 ClinVar dbSNP gnomAD v4
14g.94382700G>CCA390849523SERPINA1c.538C>G (p.Gln180Glu)
c.280C>G (p.Gln94Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382700G=CA2155954739SERPINA1c.538C= (p.Gln180=)
c.280C= (p.Gln94=)
14g.94382700G>TCA390849524SERPINA1c.538C>A (p.Gln180Lys)
c.280C>A (p.Gln94Lys)
 gnomAD v4
14g.94382701T>ACA390849525SERPINA1c.537A>T (p.Lys179Asn)
c.279A>T (p.Lys93Asn)
14g.94382701T>CCA487622026SERPINA1c.537A>G (p.Lys179=)
c.279A>G (p.Lys93=)
14g.94382701T>GCA390849526SERPINA1c.537A>C (p.Lys179Asn)
c.279A>C (p.Lys93Asn)
14g.94382702T>ACA390849527SERPINA1c.536A>T (p.Lys179Ile)
c.278A>T (p.Lys93Ile)
14g.94382702T>CCA390849528SERPINA1c.536A>G (p.Lys179Arg)
c.278A>G (p.Lys93Arg)
14g.94382702T>GCA390849529SERPINA1c.536A>C (p.Lys179Thr)
c.278A>C (p.Lys93Thr)
14g.94382703T>ACA390849532SERPINA1c.535A>T (p.Lys179Ter)
c.277A>T (p.Lys93Ter)
14g.94382703T>CCA390849531SERPINA1c.535A>G (p.Lys179Glu)
c.277A>G (p.Lys93Glu)
14g.94382703T>GCA390849530SERPINA1c.535A>C (p.Lys179Gln)
c.277A>C (p.Lys93Gln)
14g.94382704C>ACA390849533SERPINA1c.534G>T (p.Lys178Asn)
c.276G>T (p.Lys92Asn)
 gnomAD v4
14g.94382704C=CA2155954740SERPINA1c.534G= (p.Lys178=)
c.276G= (p.Lys92=)
14g.94382704C>GCA390849534SERPINA1c.534G>C (p.Lys178Asn)
c.276G>C (p.Lys92Asn)
14g.94382704C>TCA7327476SERPINA1c.534G>A (p.Lys178=)
c.276G>A (p.Lys92=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382705T>ACA390849535SERPINA1c.533A>T (p.Lys178Met)
c.275A>T (p.Lys92Met)
14g.94382705T>CCA390849536SERPINA1c.533A>G (p.Lys178Arg)
c.275A>G (p.Lys92Arg)
14g.94382705T>GCA390849537SERPINA1c.533A>C (p.Lys178Thr)
c.275A>C (p.Lys92Thr)
14g.94382706T>ACA390849538SERPINA1c.532A>T (p.Lys178Ter)
c.274A>T (p.Lys92Ter)
14g.94382706T>CCA390849539SERPINA1c.532A>G (p.Lys178Glu)
c.274A>G (p.Lys92Glu)
14g.94382706T>GCA390849540SERPINA1c.532A>C (p.Lys178Gln)
c.274A>C (p.Lys92Gln)
14g.94382707G>ACA487622027SERPINA1c.531C>T (p.Ala177=)
c.273C>T (p.Ala91=)
14g.94382707G>CCA487622028SERPINA1c.531C>G (p.Ala177=)
c.273C>G (p.Ala91=)
14g.94382707G>TCA487622029SERPINA1c.531C>A (p.Ala177=)
c.273C>A (p.Ala91=)
14g.94382708G>ACA390849541SERPINA1c.530C>T (p.Ala177Val)
c.272C>T (p.Ala91Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382708G>CCA390849542SERPINA1c.530C>G (p.Ala177Gly)
c.272C>G (p.Ala91Gly)
14g.94382708G=CA2155954741SERPINA1c.530C= (p.Ala177=)
c.272C= (p.Ala91=)
14g.94382708G>TCA390849543SERPINA1c.530C>A (p.Ala177Asp)
c.272C>A (p.Ala91Asp)
14g.94382709C>ACA390849544SERPINA1c.529G>T (p.Ala177Ser)
c.271G>T (p.Ala91Ser)
 gnomAD v4
14g.94382709C>GCA390849545SERPINA1c.529G>C (p.Ala177Pro)
c.271G>C (p.Ala91Pro)
14g.94382709C>TCA390849546SERPINA1c.529G>A (p.Ala177Thr)
c.271G>A (p.Ala91Thr)
 dbSNP
14g.94382710C>ACA390849548SERPINA1c.528G>T (p.Glu176Asp)
c.270G>T (p.Glu90Asp)
 gnomAD v4
14g.94382710C=CA2155954742SERPINA1c.528G= (p.Glu176=)
c.270G= (p.Glu90=)
14g.94382710C>GCA390849547SERPINA1c.528G>C (p.Glu176Asp)
c.270G>C (p.Glu90Asp)
14g.94382710C>TCA487622031SERPINA1c.528G>A (p.Glu176=)
c.270G>A (p.Glu90=)
 ClinVar dbSNP
14g.94382711T>ACA390849549SERPINA1c.527A>T (p.Glu176Val)
c.269A>T (p.Glu90Val)
 dbSNP gnomAD v3 gnomAD v4
14g.94382711T>CCA390849550SERPINA1c.527A>G (p.Glu176Gly)
c.269A>G (p.Glu90Gly)
14g.94382711T>GCA390849551SERPINA1c.527A>C (p.Glu176Ala)
c.269A>C (p.Glu90Ala)
14g.94382711T=CA2155954743SERPINA1c.527A= (p.Glu176=)
c.269A= (p.Glu90=)
14g.94382712C>ACA390849552SERPINA1c.526G>T (p.Glu176Ter)
c.268G>T (p.Glu90Ter)
14g.94382712C>GCA390849553SERPINA1c.526G>C (p.Glu176Gln)
c.268G>C (p.Glu90Gln)
14g.94382712C>TCA390849554SERPINA1c.526G>A (p.Glu176Lys)
c.268G>A (p.Glu90Lys)
14g.94382713T>ACA390849555SERPINA1c.525A>T (p.Glu175Asp)
c.267A>T (p.Glu89Asp)
14g.94382713T>CCA265864111SERPINA1c.525A>G (p.Glu175=)
c.267A>G (p.Glu89=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382713T>GCA390849556SERPINA1c.525A>C (p.Glu175Asp)
c.267A>C (p.Glu89Asp)
14g.94382713T=CA2155954744SERPINA1c.525A= (p.Glu175=)
c.267A= (p.Glu89=)
14g.94382714T>ACA390849557SERPINA1c.524A>T (p.Glu175Val)
c.266A>T (p.Glu89Val)
14g.94382714T>CCA390849558SERPINA1c.524A>G (p.Glu175Gly)
c.266A>G (p.Glu89Gly)
14g.94382714T>GCA390849559SERPINA1c.524A>C (p.Glu175Ala)
c.266A>C (p.Glu89Ala)
14g.94382715C>ACA390849560SERPINA1c.523G>T (p.Glu175Ter)
c.265G>T (p.Glu89Ter)
14g.94382715C=CA2155954746SERPINA1c.523G= (p.Glu175=)
c.265G= (p.Glu89=)
14g.94382715C>GCA390849561SERPINA1c.523G>C (p.Glu175Gln)
c.265G>C (p.Glu89Gln)
14g.94382715C>TCA7327477SERPINA1c.523G>A (p.Glu175Lys)
c.265G>A (p.Glu89Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382715_94382716delinsCGCA2155954745SERPINA1c.522_523delinsCG (p.Thr174=)
c.264_265delinsCG (p.Thr88=)
14g.94382716G>ACA7327478SERPINA1c.522C>T (p.Thr174=)
c.264C>T (p.Thr88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382716G>CCA487622032SERPINA1c.522C>G (p.Thr174=)
c.264C>G (p.Thr88=)
14g.94382716G=CA2155954747SERPINA1c.522C= (p.Thr174=)
c.264C= (p.Thr88=)
14g.94382716G>TCA487622034SERPINA1c.522C>A (p.Thr174=)
c.264C>A (p.Thr88=)
14g.94382717delCA966134404SERPINA1c.522del (p.Glu175LysfsTer?)
c.264del (p.Glu89LysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
14g.94382717G>ACA390849562SERPINA1c.521C>T (p.Thr174Ile)
c.263C>T (p.Thr88Ile)
14g.94382717G>CCA390849563SERPINA1c.521C>G (p.Thr174Ser)
c.263C>G (p.Thr88Ser)
 gnomAD v4
14g.94382717G>TCA390849564SERPINA1c.521C>A (p.Thr174Asn)
c.263C>A (p.Thr88Asn)
14g.94382718T>ACA390849565SERPINA1c.520A>T (p.Thr174Ser)
c.262A>T (p.Thr88Ser)
14g.94382718T>CCA390849566SERPINA1c.520A>G (p.Thr174Ala)
c.262A>G (p.Thr88Ala)
 dbSNP gnomAD v2 gnomAD v4
14g.94382718T>GCA390849567SERPINA1c.520A>C (p.Thr174Pro)
c.262A>C (p.Thr88Pro)
14g.94382718T=CA2155954748SERPINA1c.520A= (p.Thr174=)
c.262A= (p.Thr88=)
14g.94382719G>ACA487622035SERPINA1c.519C>T (p.Asp173=)
c.261C>T (p.Asp87=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382719G>CCA390849568SERPINA1c.519C>G (p.Asp173Glu)
c.261C>G (p.Asp87Glu)
14g.94382719G=CA2155954749SERPINA1c.519C= (p.Asp173=)
c.261C= (p.Asp87=)
14g.94382719G>TCA390849569SERPINA1c.519C>A (p.Asp173Glu)
c.261C>A (p.Asp87Glu)
14g.94382720T>ACA390849570SERPINA1c.518A>T (p.Asp173Val)
c.260A>T (p.Asp87Val)
14g.94382720T>CCA390849571SERPINA1c.518A>G (p.Asp173Gly)
c.260A>G (p.Asp87Gly)
14g.94382720T>GCA390849572SERPINA1c.518A>C (p.Asp173Ala)
c.260A>C (p.Asp87Ala)
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.94382724delCA2626309970SERPINA1c.517del (p.Asp173ThrfsTer?)
c.259del (p.Asp87ThrfsTer?)
 gnomAD v4
14g.94382722C>ACA487622036SERPINA1c.516G>T (p.Gly172=)
c.258G>T (p.Gly86=)
14g.94382722C=CA2155954750SERPINA1c.516G= (p.Gly172=)
c.258G= (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=)
 dbSNP gnomAD v3 gnomAD v4
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)
 dbSNP
14g.94382724C>ACA7327480SERPINA1c.514G>T (p.Gly172Trp)
c.256G>T (p.Gly86Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382724C=CA2155954751SERPINA1c.514G= (p.Gly172=)
c.256G= (p.Gly86=)
14g.94382724C>GCA390849579SERPINA1c.514G>C (p.Gly172Arg)
c.256G>C (p.Gly86Arg)
 gnomAD v4
14g.94382724C>TCA7327479SERPINA1c.514G>A (p.Gly172Arg)
c.256G>A (p.Gly86Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.[94382724C>T;94383015_94383017del]CA645372995SERPINA1c.[227_229del;514G>A] (p.[Phe76del;Gly172Arg])
c.[-23-9_-23-7del;256G>A] (p.Gly86Arg)
 ClinVar
14g.94382725G>ACA7327481SERPINA1c.513C>T (p.Phe171=)
c.255C>T (p.Phe85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382725G>CCA390849580SERPINA1c.513C>G (p.Phe171Leu)
c.255C>G (p.Phe85Leu)
14g.94382725G=CA2155954752SERPINA1c.513C= (p.Phe171=)
c.255C= (p.Phe85=)
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 v2 gnomAD v4
14g.94382728G=CA2155954753SERPINA1c.510C= (p.Asn170=)
c.252C= (p.Asn84=)
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)
 gnomAD v4
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)
 gnomAD v4
14g.94382733C>ACA390849598SERPINA1c.505G>T (p.Val169Phe)
c.247G>T (p.Val83Phe)
14g.94382733C=CA2155954754SERPINA1c.505G= (p.Val169=)
c.247G= (p.Val83=)
14g.94382733C>GCA390849600SERPINA1c.505G>C (p.Val169Leu)
c.247G>C (p.Val83Leu)
14g.94382733C>TCA390849599SERPINA1c.505G>A (p.Val169Ile)
c.247G>A (p.Val83Ile)
 dbSNP gnomAD v3 gnomAD v4
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 v2 gnomAD v3 gnomAD v4
14g.94382736T>GCA390849605SERPINA1c.502A>C (p.Thr168Pro)
c.244A>C (p.Thr82Pro)
14g.94382736T=CA2155954755SERPINA1c.502A= (p.Thr168=)
c.244A= (p.Thr82=)
14g.94382737G>ACA487622047SERPINA1c.501C>T (p.Phe167=)
c.243C>T (p.Phe81=)
14g.94382737G>CCA390849606SERPINA1c.501C>G (p.Phe167Leu)
c.243C>G (p.Phe81Leu)
14g.94382737G>TCA390849607SERPINA1c.501C>A (p.Phe167Leu)
c.243C>A (p.Phe81Leu)
14g.94382738A>CCA390849608SERPINA1c.500T>G (p.Phe167Cys)
c.242T>G (p.Phe81Cys)
14g.94382738A>GCA390849610SERPINA1c.500T>C (p.Phe167Ser)
c.242T>C (p.Phe81Ser)
14g.94382738A>TCA390849609SERPINA1c.500T>A (p.Phe167Tyr)
c.242T>A (p.Phe81Tyr)
14g.94382739A>CCA390849611SERPINA1c.499T>G (p.Phe167Val)
c.241T>G (p.Phe81Val)
14g.94382739A>GCA390849612SERPINA1c.499T>C (p.Phe167Leu)
c.241T>C (p.Phe81Leu)
 gnomAD v4
14g.94382739A>TCA390849613SERPINA1c.499T>A (p.Phe167Ile)
c.241T>A (p.Phe81Ile)
14g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATCCA2155954756SERPINA1c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=)
c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=)
14g.94382740G>ACA487622048SERPINA1c.498C>T (p.Ala166=)
c.240C>T (p.Ala80=)
 gnomAD v4
14g.94382740G>CCA487622049SERPINA1c.498C>G (p.Ala166=)
c.240C>G (p.Ala80=)
14g.94382740G>TCA487622050SERPINA1c.498C>A (p.Ala166=)
c.240C>A (p.Ala80=)
14g.94382740_94382769delCA7327484SERPINA1c.469_498del (p.Asp157_Ala166del)
c.211_240del (p.Asp71_Ala80del)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382741G>ACA390849614SERPINA1c.497C>T (p.Ala166Val)
c.239C>T (p.Ala80Val)
 COSMIC
14g.94382741G>CCA390849615SERPINA1c.497C>G (p.Ala166Gly)
c.239C>G (p.Ala80Gly)
 dbSNP gnomAD v3 gnomAD v4
14g.94382741G=CA2155954757SERPINA1c.497C= (p.Ala166=)
c.239C= (p.Ala80=)
14g.94382741G>TCA265864118SERPINA1c.497C>A (p.Ala166Asp)
c.239C>A (p.Ala80Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382742C>ACA390849616SERPINA1c.496G>T (p.Ala166Ser)
c.238G>T (p.Ala80Ser)
14g.94382742C>GCA390849617SERPINA1c.496G>C (p.Ala166Pro)
c.238G>C (p.Ala80Pro)
14g.94382742C>TCA390849618SERPINA1c.496G>A (p.Ala166Thr)
c.238G>A (p.Ala80Thr)
14g.94382743T>ACA390849619SERPINA1c.495A>T (p.Glu165Asp)
c.237A>T (p.Glu79Asp)
14g.94382743T>CCA487622051SERPINA1c.495A>G (p.Glu165=)
c.237A>G (p.Glu79=)
14g.94382743T>GCA390849620SERPINA1c.495A>C (p.Glu165Asp)
c.237A>C (p.Glu79Asp)
14g.94382744T>ACA390849621SERPINA1c.494A>T (p.Glu165Val)
c.236A>T (p.Glu79Val)
14g.94382744T>CCA390849622SERPINA1c.494A>G (p.Glu165Gly)
c.236A>G (p.Glu79Gly)
 gnomAD v4
14g.94382744T>GCA390849623SERPINA1c.494A>C (p.Glu165Ala)
c.236A>C (p.Glu79Ala)
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)

Number of alleles fetched