Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382853G>ACA390850099SERPINA1c.385C>T (p.Gln129Ter)
c.127C>T (p.Gln43Ter)
14g.94382853G>CCA390850100SERPINA1c.385C>G (p.Gln129Glu)
c.127C>G (p.Gln43Glu)
14g.94382853G=CA2155954810SERPINA1c.385C= (p.Gln129=)
c.127C= (p.Gln43=)
14g.94382853G>TCA265864143SERPINA1c.385C>A (p.Gln129Lys)
c.127C>A (p.Gln43Lys)
 dbSNP gnomAD v3 gnomAD v4
14g.94382854G>ACA487841119SERPINA1c.384C>T (p.Asn128=)
c.126C>T (p.Asn42=)
 gnomAD v4
14g.94382854G>CCA390850102SERPINA1c.384C>G (p.Asn128Lys)
c.126C>G (p.Asn42Lys)
14g.94382854G>TCA390850103SERPINA1c.384C>A (p.Asn128Lys)
c.126C>A (p.Asn42Lys)
14g.94382855T>ACA390850105SERPINA1c.383A>T (p.Asn128Ile)
c.125A>T (p.Asn42Ile)
 gnomAD v4
14g.94382855T>CCA390850107SERPINA1c.383A>G (p.Asn128Ser)
c.125A>G (p.Asn42Ser)
 gnomAD v4
14g.94382855T>GCA390850108SERPINA1c.383A>C (p.Asn128Thr)
c.125A>C (p.Asn42Thr)
14g.94382856T>ACA390850110SERPINA1c.382A>T (p.Asn128Tyr)
c.124A>T (p.Asn42Tyr)
14g.94382856T>CCA390850112SERPINA1c.382A>G (p.Asn128Asp)
c.124A>G (p.Asn42Asp)
14g.94382856T>GCA390850109SERPINA1c.382A>C (p.Asn128His)
c.124A>C (p.Asn42His)
14g.94382857G>ACA7327507SERPINA1c.381C>T (p.Leu127=)
c.123C>T (p.Leu41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382857G>CCA487841122SERPINA1c.381C>G (p.Leu127=)
c.123C>G (p.Leu41=)
14g.94382857G=CA2155954811SERPINA1c.381C= (p.Leu127=)
c.123C= (p.Leu41=)
14g.94382857G>TCA487841121SERPINA1c.381C>A (p.Leu127=)
c.123C>A (p.Leu41=)
14g.94382858A>CCA390850115SERPINA1c.380T>G (p.Leu127Arg)
c.122T>G (p.Leu41Arg)
14g.94382858A>GCA390850116SERPINA1c.380T>C (p.Leu127Pro)
c.122T>C (p.Leu41Pro)
14g.94382858A>TCA390850117SERPINA1c.380T>A (p.Leu127His)
c.122T>A (p.Leu41His)
14g.94382859G>ACA390850121SERPINA1c.379C>T (p.Leu127Phe)
c.121C>T (p.Leu41Phe)
 gnomAD v4
14g.94382859G>CCA390850119SERPINA1c.379C>G (p.Leu127Val)
c.121C>G (p.Leu41Val)
 dbSNP gnomAD v2 gnomAD v4
14g.94382859G=CA2155954812SERPINA1c.379C= (p.Leu127=)
c.121C= (p.Leu41=)
14g.94382859G>TCA390850118SERPINA1c.379C>A (p.Leu127Ile)
c.121C>A (p.Leu41Ile)
 COSMIC
14g.94382860G>ACA7327508SERPINA1c.378C>T (p.Thr126=)
c.120C>T (p.Thr40=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382860G>CCA487841125SERPINA1c.378C>G (p.Thr126=)
c.120C>G (p.Thr40=)
14g.94382860G=CA2155954813SERPINA1c.378C= (p.Thr126=)
c.120C= (p.Thr40=)
14g.94382860G>TCA487841126SERPINA1c.378C>A (p.Thr126=)
c.120C>A (p.Thr40=)
14g.94382861G>ACA390850124SERPINA1c.377C>T (p.Thr126Ile)
c.119C>T (p.Thr40Ile)
14g.94382861G>CCA390850125SERPINA1c.377C>G (p.Thr126Ser)
c.119C>G (p.Thr40Ser)
 gnomAD v4
14g.94382861G>TCA390850127SERPINA1c.377C>A (p.Thr126Asn)
c.119C>A (p.Thr40Asn)
14g.94382862delCA2695219661SERPINA1c.376del (p.Thr126ProfsTer11)
c.118del (p.Thr40ProfsTer11)
14g.94382862T>ACA390850129SERPINA1c.376A>T (p.Thr126Ser)
c.118A>T (p.Thr40Ser)
14g.94382862T>CCA390850131SERPINA1c.376A>G (p.Thr126Ala)
c.118A>G (p.Thr40Ala)
14g.94382862T>GCA390850132SERPINA1c.376A>C (p.Thr126Pro)
c.118A>C (p.Thr40Pro)
14g.94382863A=CA2155954814SERPINA1c.375T= (p.Arg125=)
c.117T= (p.Arg39=)
14g.94382863A>CCA487841128SERPINA1c.375T>G (p.Arg125=)
c.117T>G (p.Arg39=)
14g.94382863A>GCA487841129SERPINA1c.375T>C (p.Arg125=)
c.117T>C (p.Arg39=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382863A>TCA487841130SERPINA1c.375T>A (p.Arg125=)
c.117T>A (p.Arg39=)
14g.94382864C>ACA390850133SERPINA1c.374G>T (p.Arg125Leu)
c.116G>T (p.Arg39Leu)
14g.94382864C=CA2155954815SERPINA1c.374G= (p.Arg125=)
c.116G= (p.Arg39=)
14g.94382864C>GCA390850134SERPINA1c.374G>C (p.Arg125Pro)
c.116G>C (p.Arg39Pro)
14g.94382864C>TCA127621SERPINA1c.374G>A (p.Arg125His)
c.116G>A (p.Arg39His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382865G>ACA7327509SERPINA1c.373C>T (p.Arg125Cys)
c.115C>T (p.Arg39Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382865G>CCA390850137SERPINA1c.373C>G (p.Arg125Gly)
c.115C>G (p.Arg39Gly)
14g.94382865G=CA2155954816SERPINA1c.373C= (p.Arg125=)
c.115C= (p.Arg39=)
14g.94382865G>TCA390850135SERPINA1c.373C>A (p.Arg125Ser)
c.115C>A (p.Arg39Ser)
14g.94382866G>ACA487841132SERPINA1c.372C>T (p.Leu124=)
c.114C>T (p.Leu38=)
 ClinVar dbSNP gnomAD v4
14g.94382866G>CCA487841133SERPINA1c.372C>G (p.Leu124=)
c.114C>G (p.Leu38=)
14g.94382866G>TCA487841134SERPINA1c.372C>A (p.Leu124=)
c.114C>A (p.Leu38=)
 ClinVar
14g.94382867A>CCA390850139SERPINA1c.371T>G (p.Leu124Arg)
c.113T>G (p.Leu38Arg)
14g.94382867A>GCA390850141SERPINA1c.371T>C (p.Leu124Pro)
c.113T>C (p.Leu38Pro)
 gnomAD v4
14g.94382867A>TCA390850142SERPINA1c.371T>A (p.Leu124His)
c.113T>A (p.Leu38His)
14g.94382868G>ACA390850144SERPINA1c.370C>T (p.Leu124Phe)
c.112C>T (p.Leu38Phe)
14g.94382868G>CCA390850146SERPINA1c.370C>G (p.Leu124Val)
c.112C>G (p.Leu38Val)
14g.94382868G>TCA390850148SERPINA1c.370C>A (p.Leu124Ile)
c.112C>A (p.Leu38Ile)
14g.94382869G>ACA487841140SERPINA1c.369C>T (p.Leu123=)
c.111C>T (p.Leu37=)
14g.94382869G>CCA487841142SERPINA1c.369C>G (p.Leu123=)
c.111C>G (p.Leu37=)
14g.94382869G>TCA487841144SERPINA1c.369C>A (p.Leu123=)
c.111C>A (p.Leu37=)
 ClinVar dbSNP
14g.94382870A>CCA390850149SERPINA1c.368T>G (p.Leu123Arg)
c.110T>G (p.Leu37Arg)
14g.94382870A>GCA390850151SERPINA1c.368T>C (p.Leu123Pro)
c.110T>C (p.Leu37Pro)
14g.94382870A>TCA390850153SERPINA1c.368T>A (p.Leu123His)
c.110T>A (p.Leu37His)
14g.94382871G>ACA390850155SERPINA1c.367C>T (p.Leu123Phe)
c.109C>T (p.Leu37Phe)
 gnomAD v4
14g.94382871G>CCA390850156SERPINA1c.367C>G (p.Leu123Val)
c.109C>G (p.Leu37Val)
 gnomAD v4
14g.94382871G>TCA390850157SERPINA1c.367C>A (p.Leu123Ile)
c.109C>A (p.Leu37Ile)
14g.94382872T>ACA390850162SERPINA1c.366A>T (p.Glu122Asp)
c.108A>T (p.Glu36Asp)
14g.94382872T>CCA7327510SERPINA1c.366A>G (p.Glu122=)
c.108A>G (p.Glu36=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382872T>GCA390850160SERPINA1c.366A>C (p.Glu122Asp)
c.108A>C (p.Glu36Asp)
14g.94382872T=CA2155954817SERPINA1c.366A= (p.Glu122=)
c.108A= (p.Glu36=)
14g.94382873T>ACA390850164SERPINA1c.365A>T (p.Glu122Val)
c.107A>T (p.Glu36Val)
14g.94382873T>CCA390850165SERPINA1c.365A>G (p.Glu122Gly)
c.107A>G (p.Glu36Gly)
14g.94382873T>GCA390850167SERPINA1c.365A>C (p.Glu122Ala)
c.107A>C (p.Glu36Ala)
14g.94382874C>ACA390850168SERPINA1c.364G>T (p.Glu122Ter)
c.106G>T (p.Glu36Ter)
14g.94382874C>GCA390850170SERPINA1c.364G>C (p.Glu122Gln)
c.106G>C (p.Glu36Gln)
14g.94382874C>TCA390850172SERPINA1c.364G>A (p.Glu122Lys)
c.106G>A (p.Glu36Lys)
 COSMIC
14g.94382875C>ACA390850173SERPINA1c.363G>T (p.Gln121His)
c.105G>T (p.Gln35His)
14g.94382875C>GCA390850175SERPINA1c.363G>C (p.Gln121His)
c.105G>C (p.Gln35His)
14g.94382875C>TCA487841154SERPINA1c.363G>A (p.Gln121=)
c.105G>A (p.Gln35=)
14g.94382876T>ACA390850176SERPINA1c.362A>T (p.Gln121Leu)
c.104A>T (p.Gln35Leu)
14g.94382876T>CCA390850179SERPINA1c.362A>G (p.Gln121Arg)
c.104A>G (p.Gln35Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.94382876T>GCA390850181SERPINA1c.362A>C (p.Gln121Pro)
c.104A>C (p.Gln35Pro)
14g.94382876T=CA2155954818SERPINA1c.362A= (p.Gln121=)
c.104A= (p.Gln35=)
14g.94382877G>ACA390850185SERPINA1c.361C>T (p.Gln121Ter)
c.103C>T (p.Gln35Ter)
14g.94382877G>CCA390850183SERPINA1c.361C>G (p.Gln121Glu)
c.103C>G (p.Gln35Glu)
 dbSNP gnomAD v3 gnomAD v4
14g.94382877G=CA2155954819SERPINA1c.361C= (p.Gln121=)
c.103C= (p.Gln35=)
14g.94382877G>TCA390850182SERPINA1c.361C>A (p.Gln121Lys)
c.103C>A (p.Gln35Lys)
14g.94382878G>ACA487841158SERPINA1c.360C>T (p.Phe120=)
c.102C>T (p.Phe34=)
14g.94382878G>CCA390850187SERPINA1c.360C>G (p.Phe120Leu)
c.102C>G (p.Phe34Leu)
 gnomAD v4
14g.94382878G>TCA390850188SERPINA1c.360C>A (p.Phe120Leu)
c.102C>A (p.Phe34Leu)
14g.94382879A>CCA390850189SERPINA1c.359T>G (p.Phe120Cys)
c.101T>G (p.Phe34Cys)
14g.94382879A>GCA390850191SERPINA1c.359T>C (p.Phe120Ser)
c.101T>C (p.Phe34Ser)
14g.94382879A>TCA390850193SERPINA1c.359T>A (p.Phe120Tyr)
c.101T>A (p.Phe34Tyr)
14g.94382880A>CCA390850195SERPINA1c.358T>G (p.Phe120Val)
c.100T>G (p.Phe34Val)
 gnomAD v4
14g.94382880A>GCA390850196SERPINA1c.358T>C (p.Phe120Leu)
c.100T>C (p.Phe34Leu)
14g.94382880A>TCA390850197SERPINA1c.358T>A (p.Phe120Ile)
c.100T>A (p.Phe34Ile)
14g.94382881G>ACA487841161SERPINA1c.357C>T (p.Gly119=)
c.99C>T (p.Gly33=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382881G>CCA487841165SERPINA1c.357C>G (p.Gly119=)
c.99C>G (p.Gly33=)
14g.94382881G=CA2155954820SERPINA1c.357C= (p.Gly119=)
c.99C= (p.Gly33=)
14g.94382881G>TCA487841168SERPINA1c.357C>A (p.Gly119=)
c.99C>A (p.Gly33=)
14g.94382882C>ACA265864148SERPINA1c.356G>T (p.Gly119Val)
c.98G>T (p.Gly33Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.94382882C=CA2155954821SERPINA1c.356G= (p.Gly119=)
c.98G= (p.Gly33=)
14g.94382882C>GCA265864149SERPINA1c.356G>C (p.Gly119Ala)
c.98G>C (p.Gly33Ala)
 dbSNP gnomAD v2 gnomAD v4
14g.94382882C>TCA390850200SERPINA1c.356G>A (p.Gly119Asp)
c.98G>A (p.Gly33Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.94382883C>ACA390850202SERPINA1c.355G>T (p.Gly119Cys)
c.97G>T (p.Gly33Cys)
14g.94382883C>GCA390850203SERPINA1c.355G>C (p.Gly119Arg)
c.97G>C (p.Gly33Arg)
14g.94382883C>TCA390850205SERPINA1c.355G>A (p.Gly119Ser)
c.97G>A (p.Gly33Ser)
 gnomAD v4
14g.94382883_94382884delinsCTCA2155954822SERPINA1c.354_355delinsAG (p.Glu118=)
c.96_97delinsAG (p.Glu32=)
14g.94382884T>ACA390850206SERPINA1c.354A>T (p.Glu118Asp)
c.96A>T (p.Glu32Asp)
14g.94382884T>CCA487841174SERPINA1c.354A>G (p.Glu118=)
c.96A>G (p.Glu32=)
 ClinVar
14g.94382884T>GCA390850207SERPINA1c.354A>C (p.Glu118Asp)
c.96A>C (p.Glu32Asp)
 gnomAD v4
14g.94382885delCA2155954823SERPINA1c.354del (p.Gly119AlafsTer18)
c.96del (p.Gly33AlafsTer18)
 dbSNP
14g.94382885T>ACA390850208SERPINA1c.353A>T (p.Glu118Val)
c.95A>T (p.Glu32Val)
14g.94382885T>CCA390850210SERPINA1c.353A>G (p.Glu118Gly)
c.95A>G (p.Glu32Gly)
14g.94382885T>GCA390850211SERPINA1c.353A>C (p.Glu118Ala)
c.95A>C (p.Glu32Ala)
14g.94382886C>ACA390850213SERPINA1c.352G>T (p.Glu118Ter)
c.94G>T (p.Glu32Ter)
14g.94382886C>GCA390850215SERPINA1c.352G>C (p.Glu118Gln)
c.94G>C (p.Glu32Gln)
14g.94382886C>TCA390850216SERPINA1c.352G>A (p.Glu118Lys)
c.94G>A (p.Glu32Lys)
14g.94382886_94382887delCA2695199867SERPINA1c.351_352del (p.His117GlnfsTer?)
c.93_94del (p.His31GlnfsTer?)
 ClinVar
14g.94382887A=CA2155954824SERPINA1c.351T= (p.His117=)
c.93T= (p.His31=)
14g.94382887A>CCA390850218SERPINA1c.351T>G (p.His117Gln)
c.93T>G (p.His31Gln)
14g.94382887A>GCA487841182SERPINA1c.351T>C (p.His117=)
c.93T>C (p.His31=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382887A>TCA390850219SERPINA1c.351T>A (p.His117Gln)
c.93T>A (p.His31Gln)
 gnomAD v4
14g.94382888T>ACA390850221SERPINA1c.350A>T (p.His117Leu)
c.92A>T (p.His31Leu)
14g.94382888T>CCA390850223SERPINA1c.350A>G (p.His117Arg)
c.92A>G (p.His31Arg)
 gnomAD v4
14g.94382888T>GCA390850224SERPINA1c.350A>C (p.His117Pro)
c.92A>C (p.His31Pro)
14g.94382889G>ACA390850226SERPINA1c.349C>T (p.His117Tyr)
c.91C>T (p.His31Tyr)
 ClinVar dbSNP
14g.94382889G>CCA390850229SERPINA1c.349C>G (p.His117Asp)
c.91C>G (p.His31Asp)
14g.94382889G=CA2155954825SERPINA1c.349C= (p.His117=)
c.91C= (p.His31=)
14g.94382889G>TCA390850227SERPINA1c.349C>A (p.His117Asn)
c.91C>A (p.His31Asn)
14g.94382890G>ACA487841193SERPINA1c.348C>T (p.Ile116=)
c.90C>T (p.Ile30=)
 gnomAD v4
14g.94382890G>CCA7327511SERPINA1c.348C>G (p.Ile116Met)
c.90C>G (p.Ile30Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382890G=CA2155954826SERPINA1c.348C= (p.Ile116=)
c.90C= (p.Ile30=)
14g.94382890G>TCA487841194SERPINA1c.348C>A (p.Ile116=)
c.90C>A (p.Ile30=)
 dbSNP
14g.94382891A=CA2155954827SERPINA1c.347T= (p.Ile116=)
c.89T= (p.Ile30=)
14g.94382891A>CCA390850230SERPINA1c.347T>G (p.Ile116Ser)
c.89T>G (p.Ile30Ser)
14g.94382891A>GCA390850232SERPINA1c.347T>C (p.Ile116Thr)
c.89T>C (p.Ile30Thr)
14g.94382891A>TCA127736SERPINA1c.347T>A (p.Ile116Asn)
c.89T>A (p.Ile30Asn)
 ClinVar dbSNP
14g.94382892T>ACA390850234SERPINA1c.346A>T (p.Ile116Phe)
c.88A>T (p.Ile30Phe)
14g.94382892T>CCA265864153SERPINA1c.346A>G (p.Ile116Val)
c.88A>G (p.Ile30Val)
 dbSNP
14g.94382892T>GCA390850236SERPINA1c.346A>C (p.Ile116Leu)
c.88A>C (p.Ile30Leu)
14g.94382892T=CA2155954828SERPINA1c.346A= (p.Ile116=)
c.88A= (p.Ile30=)
14g.94382893C>ACA390850239SERPINA1c.345G>T (p.Gln115His)
c.87G>T (p.Gln29His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382893C=CA2155954829SERPINA1c.345G= (p.Gln115=)
c.87G= (p.Gln29=)
14g.94382893C>GCA390850237SERPINA1c.345G>C (p.Gln115His)
c.87G>C (p.Gln29His)
14g.94382893C>TCA487841204SERPINA1c.345G>A (p.Gln115=)
c.87G>A (p.Gln29=)
 gnomAD v4
14g.94382894T>ACA390850241SERPINA1c.344A>T (p.Gln115Leu)
c.86A>T (p.Gln29Leu)
 gnomAD v4
14g.94382894T>CCA390850243SERPINA1c.344A>G (p.Gln115Arg)
c.86A>G (p.Gln29Arg)
14g.94382894T>GCA390850244SERPINA1c.344A>C (p.Gln115Pro)
c.86A>C (p.Gln29Pro)
14g.94382895G>ACA390850245SERPINA1c.343C>T (p.Gln115Ter)
c.85C>T (p.Gln29Ter)
 ClinVar
14g.94382895G>CCA390850247SERPINA1c.343C>G (p.Gln115Glu)
c.85C>G (p.Gln29Glu)
 dbSNP gnomAD v4
14g.94382895G=CA2155954830SERPINA1c.343C= (p.Gln115=)
c.85C= (p.Gln29=)
14g.94382895G>TCA390850249SERPINA1c.343C>A (p.Gln115Lys)
c.85C>A (p.Gln29Lys)
14g.94382896A>CCA487841211SERPINA1c.342T>G (p.Ala114=)
c.84T>G (p.Ala28=)
14g.94382896A>GCA487841213SERPINA1c.342T>C (p.Ala114=)
c.84T>C (p.Ala28=)
14g.94382896A>TCA487841215SERPINA1c.342T>A (p.Ala114=)
c.84T>A (p.Ala28=)
14g.94382897G>ACA390850250SERPINA1c.341C>T (p.Ala114Val)
c.83C>T (p.Ala28Val)
 dbSNP gnomAD v2 gnomAD v4
14g.94382897G>CCA390850253SERPINA1c.341C>G (p.Ala114Gly)
c.83C>G (p.Ala28Gly)
14g.94382897G=CA2155954831SERPINA1c.341C= (p.Ala114=)
c.83C= (p.Ala28=)
14g.94382897G>TCA390850252SERPINA1c.341C>A (p.Ala114Asp)
c.83C>A (p.Ala28Asp)
14g.94382898C>ACA390850255SERPINA1c.340G>T (p.Ala114Ser)
c.82G>T (p.Ala28Ser)
 dbSNP gnomAD v4
14g.94382898C=CA2155954832SERPINA1c.340G= (p.Ala114=)
c.82G= (p.Ala28=)
14g.94382898C>GCA390850257SERPINA1c.340G>C (p.Ala114Pro)
c.82G>C (p.Ala28Pro)
14g.94382898C>TCA390850259SERPINA1c.340G>A (p.Ala114Thr)
c.82G>A (p.Ala28Thr)
14g.94382899C>ACA390850260SERPINA1c.339G>T (p.Glu113Asp)
c.81G>T (p.Glu27Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94382899C=CA2155954833SERPINA1c.339G= (p.Glu113=)
c.81G= (p.Glu27=)
14g.94382899C>GCA390850261SERPINA1c.339G>C (p.Glu113Asp)
c.81G>C (p.Glu27Asp)
14g.94382899C>TCA487841220SERPINA1c.339G>A (p.Glu113=)
c.81G>A (p.Glu27=)
 gnomAD v4
14g.94382900T>ACA390850263SERPINA1c.338A>T (p.Glu113Val)
c.80A>T (p.Glu27Val)
14g.94382900T>CCA390850265SERPINA1c.338A>G (p.Glu113Gly)
c.80A>G (p.Glu27Gly)
14g.94382900T>GCA390850267SERPINA1c.338A>C (p.Glu113Ala)
c.80A>C (p.Glu27Ala)
14g.94382901C>ACA390850268SERPINA1c.337G>T (p.Glu113Ter)
c.79G>T (p.Glu27Ter)
14g.94382901C=CA2155954834SERPINA1c.337G= (p.Glu113=)
c.79G= (p.Glu27=)
14g.94382901C>GCA390850270SERPINA1c.337G>C (p.Glu113Gln)
c.79G>C (p.Glu27Gln)
14g.94382901C>TCA7327512SERPINA1c.337G>A (p.Glu113Lys)
c.79G>A (p.Glu27Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382902C>ACA487841230SERPINA1c.336G>T (p.Pro112=)
c.78G>T (p.Pro26=)
14g.94382902C=CA2155954835SERPINA1c.336G= (p.Pro112=)
c.78G= (p.Pro26=)
14g.94382902C>GCA487841231SERPINA1c.336G>C (p.Pro112=)
c.78G>C (p.Pro26=)
14g.94382902C>TCA7327513SERPINA1c.336G>A (p.Pro112=)
c.78G>A (p.Pro26=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382903G>ACA7327514SERPINA1c.335C>T (p.Pro112Leu)
c.77C>T (p.Pro26Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382903G>CCA390850273SERPINA1c.335C>G (p.Pro112Arg)
c.77C>G (p.Pro26Arg)
14g.94382903G=CA2155954836SERPINA1c.335C= (p.Pro112=)
c.77C= (p.Pro26=)
14g.94382903G>TCA390850274SERPINA1c.335C>A (p.Pro112Gln)
c.77C>A (p.Pro26Gln)
14g.94382904G>ACA390850277SERPINA1c.334C>T (p.Pro112Ser)
c.76C>T (p.Pro26Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94382904G>CCA390850278SERPINA1c.334C>G (p.Pro112Ala)
c.76C>G (p.Pro26Ala)
14g.94382904G=CA2155954837SERPINA1c.334C= (p.Pro112=)
c.76C= (p.Pro26=)
14g.94382904G>TCA10606617SERPINA1c.334C>A (p.Pro112Thr)
c.76C>A (p.Pro26Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382905A=CA2155954838SERPINA1c.333T= (p.Ile111=)
c.75T= (p.Ile25=)
14g.94382905A>CCA10641355SERPINA1c.333T>G (p.Ile111Met)
c.75T>G (p.Ile25Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.94382905A>GCA487841235SERPINA1c.333T>C (p.Ile111=)
c.75T>C (p.Ile25=)
14g.94382905A>TCA487841234SERPINA1c.333T>A (p.Ile111=)
c.75T>A (p.Ile25=)
14g.94382906A>CCA390850282SERPINA1c.332T>G (p.Ile111Ser)
c.74T>G (p.Ile25Ser)
14g.94382906A>GCA390850283SERPINA1c.332T>C (p.Ile111Thr)
c.74T>C (p.Ile25Thr)
 gnomAD v4
14g.94382906A>TCA390850285SERPINA1c.332T>A (p.Ile111Asn)
c.74T>A (p.Ile25Asn)
14g.94382907T>ACA390850287SERPINA1c.331A>T (p.Ile111Phe)
c.73A>T (p.Ile25Phe)
14g.94382907T>CCA390850289SERPINA1c.331A>G (p.Ile111Val)
c.73A>G (p.Ile25Val)
 gnomAD v4
14g.94382907T>GCA390850290SERPINA1c.331A>C (p.Ile111Leu)
c.73A>C (p.Ile25Leu)
14g.94382908C>ACA390850292SERPINA1c.330G>T (p.Glu110Asp)
c.72G>T (p.Glu24Asp)
 gnomAD v4
14g.94382908C>GCA390850294SERPINA1c.330G>C (p.Glu110Asp)
c.72G>C (p.Glu24Asp)
14g.94382908C>TCA487841243SERPINA1c.330G>A (p.Glu110=)
c.72G>A (p.Glu24=)
14g.94382909T>ACA390850298SERPINA1c.329A>T (p.Glu110Val)
c.71A>T (p.Glu24Val)
14g.94382909T>CCA390850297SERPINA1c.329A>G (p.Glu110Gly)
c.71A>G (p.Glu24Gly)
14g.94382909T>GCA390850295SERPINA1c.329A>C (p.Glu110Ala)
c.71A>C (p.Glu24Ala)
14g.94382910C>ACA390850300SERPINA1c.328G>T (p.Glu110Ter)
c.70G>T (p.Glu24Ter)
14g.94382910C>GCA390850302SERPINA1c.328G>C (p.Glu110Gln)
c.70G>C (p.Glu24Gln)
14g.94382910C>TCA390850303SERPINA1c.328G>A (p.Glu110Lys)
c.70G>A (p.Glu24Lys)
 COSMIC
14g.94382911C>ACA487841244SERPINA1c.327G>T (p.Thr109=)
c.69G>T (p.Thr23=)
 dbSNP
14g.94382911C=CA2155954839SERPINA1c.327G= (p.Thr109=)
c.69G= (p.Thr23=)
14g.94382911C>GCA487841247SERPINA1c.327G>C (p.Thr109=)
c.69G>C (p.Thr23=)
14g.94382911C>TCA7327515SERPINA1c.327G>A (p.Thr109=)
c.69G>A (p.Thr23=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382912G>ACA127741SERPINA1c.326C>T (p.Thr109Met)
c.68C>T (p.Thr23Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382912G>CCA390850307SERPINA1c.326C>G (p.Thr109Arg)
c.68C>G (p.Thr23Arg)
14g.94382912G=CA2155954840SERPINA1c.326C= (p.Thr109=)
c.68C= (p.Thr23=)
14g.94382912G>TCA390850308SERPINA1c.326C>A (p.Thr109Lys)
c.68C>A (p.Thr23Lys)
14g.94382913T>ACA390850309SERPINA1c.325A>T (p.Thr109Ser)
c.67A>T (p.Thr23Ser)
14g.94382913T>CCA390850310SERPINA1c.325A>G (p.Thr109Ala)
c.67A>G (p.Thr23Ala)
14g.94382913T>GCA390850311SERPINA1c.325A>C (p.Thr109Pro)
c.67A>C (p.Thr23Pro)
 gnomAD v4
14g.94382914G>ACA487841253SERPINA1c.324C>T (p.Leu108=)
c.66C>T (p.Leu22=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94382914G>CCA487841254SERPINA1c.324C>G (p.Leu108=)
c.66C>G (p.Leu22=)
14g.94382914G=CA2155954841SERPINA1c.324C= (p.Leu108=)
c.66C= (p.Leu22=)
14g.94382914G>TCA487841255SERPINA1c.324C>A (p.Leu108=)
c.66C>A (p.Leu22=)
14g.94382915A=CA2155954842SERPINA1c.323T= (p.Leu108=)
c.65T= (p.Leu22=)
14g.94382915A>CCA265864158SERPINA1c.323T>G (p.Leu108Arg)
c.65T>G (p.Leu22Arg)
 dbSNP gnomAD v4
14g.94382915A>GCA390850312SERPINA1c.323T>C (p.Leu108Pro)
c.65T>C (p.Leu22Pro)
14g.94382915A>TCA390850313SERPINA1c.323T>A (p.Leu108His)
c.65T>A (p.Leu22His)
 dbSNP
14g.94382916G>ACA390850315SERPINA1c.322C>T (p.Leu108Phe)
c.64C>T (p.Leu22Phe)
14g.94382916G>CCA265864160SERPINA1c.322C>G (p.Leu108Val)
c.64C>G (p.Leu22Val)
 dbSNP gnomAD v4
14g.94382916G=CA2155954843SERPINA1c.322C= (p.Leu108=)
c.64C= (p.Leu22=)
14g.94382916G>TCA390850314SERPINA1c.322C>A (p.Leu108Ile)
c.64C>A (p.Leu22Ile)
14g.94382917G>ACA487841263SERPINA1c.321C>T (p.Asn107=)
c.63C>T (p.Asn21=)
 ClinVar dbSNP gnomAD v4
14g.94382917G>CCA390850316SERPINA1c.321C>G (p.Asn107Lys)
c.63C>G (p.Asn21Lys)
14g.94382917G=CA2155954844SERPINA1c.321C= (p.Asn107=)
c.63C= (p.Asn21=)
14g.94382917G>TCA390850317SERPINA1c.321C>A (p.Asn107Lys)
c.63C>A (p.Asn21Lys)
14g.94382918T>ACA390850318SERPINA1c.320A>T (p.Asn107Ile)
c.62A>T (p.Asn21Ile)
14g.94382918T>CCA390850319SERPINA1c.320A>G (p.Asn107Ser)
c.62A>G (p.Asn21Ser)
14g.94382918T>GCA390850320SERPINA1c.320A>C (p.Asn107Thr)
c.62A>C (p.Asn21Thr)
14g.94382919T>ACA390850321SERPINA1c.319A>T (p.Asn107Tyr)
c.61A>T (p.Asn21Tyr)
14g.94382919T>CCA390850322SERPINA1c.319A>G (p.Asn107Asp)
c.61A>G (p.Asn21Asp)
14g.94382919T>GCA390850323SERPINA1c.319A>C (p.Asn107His)
c.61A>C (p.Asn21His)
14g.94382920G>ACA487841277SERPINA1c.318C>T (p.Phe106=)
c.60C>T (p.Phe20=)
 ClinVar dbSNP gnomAD v2 COSMIC
14g.94382920G>CCA390850324SERPINA1c.318C>G (p.Phe106Leu)
c.60C>G (p.Phe20Leu)
14g.94382920G=CA2155954845SERPINA1c.318C= (p.Phe106=)
c.60C= (p.Phe20=)
14g.94382920G>TCA390850325SERPINA1c.318C>A (p.Phe106Leu)
c.60C>A (p.Phe20Leu)
 dbSNP
14g.94382921A>CCA390850326SERPINA1c.317T>G (p.Phe106Cys)
c.59T>G (p.Phe20Cys)
14g.94382921A>GCA390850327SERPINA1c.317T>C (p.Phe106Ser)
c.59T>C (p.Phe20Ser)
14g.94382921A>TCA390850328SERPINA1c.317T>A (p.Phe106Tyr)
c.59T>A (p.Phe20Tyr)
14g.94382922A>CCA390850331SERPINA1c.316T>G (p.Phe106Val)
c.58T>G (p.Phe20Val)
14g.94382922A>GCA390850330SERPINA1c.316T>C (p.Phe106Leu)
c.58T>C (p.Phe20Leu)
14g.94382922A>TCA390850329SERPINA1c.316T>A (p.Phe106Ile)
c.58T>A (p.Phe20Ile)
14g.94382923A>CCA390850332SERPINA1c.315T>G (p.Asn105Lys)
c.57T>G (p.Asn19Lys)
14g.94382923A>GCA487841283SERPINA1c.315T>C (p.Asn105=)
c.57T>C (p.Asn19=)
14g.94382923A>TCA390850333SERPINA1c.315T>A (p.Asn105Lys)
c.57T>A (p.Asn19Lys)
14g.94382924T>ACA390850334SERPINA1c.314A>T (p.Asn105Ile)
c.56A>T (p.Asn19Ile)
14g.94382924T>CCA390850335SERPINA1c.314A>G (p.Asn105Ser)
c.56A>G (p.Asn19Ser)
14g.94382924T>GCA390850336SERPINA1c.314A>C (p.Asn105Thr)
c.56A>C (p.Asn19Thr)
14g.94382925T>ACA390850337SERPINA1c.313A>T (p.Asn105Tyr)
c.55A>T (p.Asn19Tyr)
14g.94382925T>CCA7327516SERPINA1c.313A>G (p.Asn105Asp)
c.55A>G (p.Asn19Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382925T>GCA390850338SERPINA1c.313A>C (p.Asn105His)
c.55A>C (p.Asn19His)
14g.94382925T=CA2155954846SERPINA1c.313A= (p.Asn105=)
c.55A= (p.Asn19=)
14g.94382926C>ACA487841290SERPINA1c.312G>T (p.Leu104=)
c.54G>T (p.Leu18=)
14g.94382926C>GCA487841289SERPINA1c.312G>C (p.Leu104=)
c.54G>C (p.Leu18=)
14g.94382926C>TCA487841288SERPINA1c.312G>A (p.Leu104=)
c.54G>A (p.Leu18=)
14g.94382927A>CCA390850339SERPINA1c.311T>G (p.Leu104Arg)
c.53T>G (p.Leu18Arg)
14g.94382927A>GCA390850340SERPINA1c.311T>C (p.Leu104Pro)
c.53T>C (p.Leu18Pro)
14g.94382927A>TCA390850341SERPINA1c.311T>A (p.Leu104Gln)
c.53T>A (p.Leu18Gln)
14g.94382928G>ACA487841292SERPINA1c.310C>T (p.Leu104=)
c.52C>T (p.Leu18=)
 gnomAD v4
14g.94382928G>CCA390850342SERPINA1c.310C>G (p.Leu104Val)
c.52C>G (p.Leu18Val)
14g.94382928G>TCA390850343SERPINA1c.310C>A (p.Leu104Met)
c.52C>A (p.Leu18Met)
14g.94382929G>ACA487841298SERPINA1c.309C>T (p.Gly103=)
c.51C>T (p.Gly17=)
14g.94382929G>CCA487841296SERPINA1c.309C>G (p.Gly103=)
c.51C>G (p.Gly17=)
14g.94382929G>TCA487841295SERPINA1c.309C>A (p.Gly103=)
c.51C>A (p.Gly17=)
14g.94382930C>ACA390850345SERPINA1c.308G>T (p.Gly103Val)
c.50G>T (p.Gly17Val)
 gnomAD v4
14g.94382930C>GCA390850346SERPINA1c.308G>C (p.Gly103Ala)
c.50G>C (p.Gly17Ala)
14g.94382930C>TCA390850344SERPINA1c.308G>A (p.Gly103Asp)
c.50G>A (p.Gly17Asp)
14g.94382932delCA2730054620SERPINA1c.308del (p.Gly103AlafsTer2)
c.50del (p.Gly17AlafsTer2)
 dbSNP
14g.94382931C>ACA390850347SERPINA1c.307G>T (p.Gly103Cys)
c.49G>T (p.Gly17Cys)
14g.94382931C>GCA390850348SERPINA1c.307G>C (p.Gly103Arg)
c.49G>C (p.Gly17Arg)
14g.94382931C>TCA390850349SERPINA1c.307G>A (p.Gly103Ser)
c.49G>A (p.Gly17Ser)
14g.94382932C>ACA390850350SERPINA1c.306G>T (p.Glu102Asp)
c.48G>T (p.Glu16Asp)
14g.94382932C>GCA390850351SERPINA1c.306G>C (p.Glu102Asp)
c.48G>C (p.Glu16Asp)
14g.94382932C>TCA487841303SERPINA1c.306G>A (p.Glu102=)
c.48G>A (p.Glu16=)
 gnomAD v4
14g.94382933T>ACA390850352SERPINA1c.305A>T (p.Glu102Val)
c.47A>T (p.Glu16Val)
 dbSNP
14g.94382933T>CCA390850353SERPINA1c.305A>G (p.Glu102Gly)
c.47A>G (p.Glu16Gly)
 gnomAD v4
14g.94382933T>GCA390850354SERPINA1c.305A>C (p.Glu102Ala)
c.47A>C (p.Glu16Ala)
14g.94382933T=CA2155954847SERPINA1c.305A= (p.Glu102=)
c.47A= (p.Glu16=)
14g.94382934C>ACA390850355SERPINA1c.304G>T (p.Glu102Ter)
c.46G>T (p.Glu16Ter)
14g.94382934C=CA2155954848SERPINA1c.304G= (p.Glu102=)
c.46G= (p.Glu16=)
14g.94382934C>GCA390850356SERPINA1c.304G>C (p.Glu102Gln)
c.46G>C (p.Glu16Gln)
14g.94382934C>TCA390850357SERPINA1c.304G>A (p.Glu102Lys)
c.46G>A (p.Glu16Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.94382935C>ACA487841308SERPINA1c.303G>T (p.Leu101=)
c.45G>T (p.Leu15=)
14g.94382935C>GCA487841310SERPINA1c.303G>C (p.Leu101=)
c.45G>C (p.Leu15=)
14g.94382935C>TCA487841311SERPINA1c.303G>A (p.Leu101=)
c.45G>A (p.Leu15=)
 dbSNP
14g.94382936A>CCA390850360SERPINA1c.302T>G (p.Leu101Arg)
c.44T>G (p.Leu15Arg)
14g.94382936A>GCA390850359SERPINA1c.302T>C (p.Leu101Pro)
c.44T>C (p.Leu15Pro)
14g.94382936A>TCA390850358SERPINA1c.302T>A (p.Leu101Gln)
c.44T>A (p.Leu15Gln)
14g.94382937G>ACA487841313SERPINA1c.301C>T (p.Leu101=)
c.43C>T (p.Leu15=)
 gnomAD v4
14g.94382937G>CCA390850361SERPINA1c.301C>G (p.Leu101Val)
c.43C>G (p.Leu15Val)
14g.94382937G>TCA390850362SERPINA1c.301C>A (p.Leu101Met)
c.43C>A (p.Leu15Met)
14g.94382938G>ACA487841316SERPINA1c.300C>T (p.Ile100=)
c.42C>T (p.Ile14=)
14g.94382938G>CCA390850363SERPINA1c.300C>G (p.Ile100Met)
c.42C>G (p.Ile14Met)
14g.94382938G>TCA487841319SERPINA1c.300C>A (p.Ile100=)
c.42C>A (p.Ile14=)
14g.94382939A=CA2155954849SERPINA1c.299T= (p.Ile100=)
c.41T= (p.Ile14=)
14g.94382939A>CCA390850364SERPINA1c.299T>G (p.Ile100Ser)
c.41T>G (p.Ile14Ser)
14g.94382939A>GCA390850365SERPINA1c.299T>C (p.Ile100Thr)
c.41T>C (p.Ile14Thr)
14g.94382939A>TCA390850366SERPINA1c.299T>A (p.Ile100Asn)
c.41T>A (p.Ile14Asn)
 ClinVar dbSNP gnomAD v4
14g.94382940T>ACA390850367SERPINA1c.298A>T (p.Ile100Phe)
c.40A>T (p.Ile14Phe)
14g.94382940T>CCA390850368SERPINA1c.298A>G (p.Ile100Val)
c.40A>G (p.Ile14Val)
 gnomAD v4
14g.94382940T>GCA390850369SERPINA1c.298A>C (p.Ile100Leu)
c.40A>C (p.Ile14Leu)
14g.94382941T>ACA390850370SERPINA1c.297A>T (p.Glu99Asp)
c.39A>T (p.Glu13Asp)
 dbSNP gnomAD v4
14g.94382941T>CCA487841324SERPINA1c.297A>G (p.Glu99=)
c.39A>G (p.Glu13=)
14g.94382941T>GCA390850371SERPINA1c.297A>C (p.Glu99Asp)
c.39A>C (p.Glu13Asp)
 ClinVar dbSNP
14g.94382941T=CA2155954850SERPINA1c.297A= (p.Glu99=)
c.39A= (p.Glu13=)
14g.94382942T>ACA390850374SERPINA1c.296A>T (p.Glu99Val)
c.38A>T (p.Glu13Val)
14g.94382942T>CCA390850373SERPINA1c.296A>G (p.Glu99Gly)
c.38A>G (p.Glu13Gly)
14g.94382942T>GCA390850372SERPINA1c.296A>C (p.Glu99Ala)
c.38A>C (p.Glu13Ala)
14g.94382943C>ACA390850375SERPINA1c.295G>T (p.Glu99Ter)
c.37G>T (p.Glu13Ter)
14g.94382943C>GCA390850377SERPINA1c.295G>C (p.Glu99Gln)
c.37G>C (p.Glu13Gln)
14g.94382943C>TCA390850376SERPINA1c.295G>A (p.Glu99Lys)
c.37G>A (p.Glu13Lys)
 dbSNP
14g.94382943_94382944insCACCAACACCCACCAAACACACCCAACCCA2802663977SERPINA1c.295_296insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu99GlyfsTer29)
c.37_38insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu13GlyfsTer29)
c.295_296insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu99GlyfsTer?)
14g.94382944A>CCA390850378SERPINA1c.294T>G (p.Asp98Glu)
c.36T>G (p.Asp12Glu)
14g.94382944A>GCA487841329SERPINA1c.294T>C (p.Asp98=)
c.36T>C (p.Asp12=)
 ClinVar
14g.94382944A>TCA390850379SERPINA1c.294T>A (p.Asp98Glu)
c.36T>A (p.Asp12Glu)
14g.94382945T>ACA390850380SERPINA1c.293A>T (p.Asp98Val)
c.35A>T (p.Asp12Val)
 dbSNP
14g.94382945T>CCA390850382SERPINA1c.293A>G (p.Asp98Gly)
c.35A>G (p.Asp12Gly)
 gnomAD v4
14g.94382945T>GCA390850381SERPINA1c.293A>C (p.Asp98Ala)
c.35A>C (p.Asp12Ala)
14g.94382945T=CA2155954851SERPINA1c.293A= (p.Asp98=)
c.35A= (p.Asp12=)
14g.94382946C>ACA390850383SERPINA1c.292G>T (p.Asp98Tyr)
c.34G>T (p.Asp12Tyr)
14g.94382946C=CA2155954852SERPINA1c.292G= (p.Asp98=)
c.34G= (p.Asp12=)
14g.94382946C>GCA390850384SERPINA1c.292G>C (p.Asp98His)
c.34G>C (p.Asp12His)
14g.94382946C>TCA265864162SERPINA1c.292G>A (p.Asp98Asn)
c.34G>A (p.Asp12Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382946_94382950delinsCGTGACA2155954853SERPINA1c.288_292delinsTCACG (p.Thr96=)
c.30_34delinsTCACG (p.Thr10=)
14g.94382947G>ACA7327517SERPINA1c.291C>T (p.His97=)
c.33C>T (p.His11=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382947G>CCA265864165SERPINA1c.291C>G (p.His97Gln)
c.33C>G (p.His11Gln)
 dbSNP gnomAD v4
14g.94382947G=CA2155954854SERPINA1c.291C= (p.His97=)
c.33C= (p.His11=)
14g.94382947G>TCA265864167SERPINA1c.291C>A (p.His97Gln)
c.33C>A (p.His11Gln)
 dbSNP gnomAD v4
14g.94382950_94382953delCA16040627SERPINA1c.288_291del (p.His97MetfsTer7)
c.30_33del (p.His11MetfsTer7)
 ClinVar dbSNP
14g.94382948T>ACA390850385SERPINA1c.290A>T (p.His97Leu)
c.32A>T (p.His11Leu)
14g.94382948T>CCA390850386SERPINA1c.290A>G (p.His97Arg)
c.32A>G (p.His11Arg)
14g.94382948T>GCA390850387SERPINA1c.290A>C (p.His97Pro)
c.32A>C (p.His11Pro)
14g.94382948dupCA2155954855SERPINA1c.290dup (p.His97GlnfsTer3)
c.32dup (p.His11GlnfsTer3)
 dbSNP
14g.94382949G>ACA390850388SERPINA1c.289C>T (p.His97Tyr)
c.31C>T (p.His11Tyr)
14g.94382949G>CCA390850389SERPINA1c.289C>G (p.His97Asp)
c.31C>G (p.His11Asp)
14g.94382949G>TCA390850390SERPINA1c.289C>A (p.His97Asn)
c.31C>A (p.His11Asn)
14g.94382950A=CA2155954856SERPINA1c.288T= (p.Thr96=)
c.30T= (p.Thr10=)
14g.94382950A>CCA487841341SERPINA1c.288T>G (p.Thr96=)
c.30T>G (p.Thr10=)
14g.94382950A>GCA487841342SERPINA1c.288T>C (p.Thr96=)
c.30T>C (p.Thr10=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382950A>TCA487841343SERPINA1c.288T>A (p.Thr96=)
c.30T>A (p.Thr10=)
14g.94382951G>ACA390850393SERPINA1c.287C>T (p.Thr96Ile)
c.29C>T (p.Thr10Ile)
 dbSNP COSMIC
14g.94382951G>CCA390850392SERPINA1c.287C>G (p.Thr96Ser)
c.29C>G (p.Thr10Ser)
14g.94382951G=CA2155954857SERPINA1c.287C= (p.Thr96=)
c.29C= (p.Thr10=)
14g.94382951G>TCA390850391SERPINA1c.287C>A (p.Thr96Asn)
c.29C>A (p.Thr10Asn)
 gnomAD v4
14g.94382953_94382954dupCA2695219662SERPINA1c.286_287dup (p.His97LeufsTer9)
c.28_29dup (p.His11LeufsTer9)
14g.94382952T>ACA390850394SERPINA1c.286A>T (p.Thr96Ser)
c.28A>T (p.Thr10Ser)
14g.94382952T>CCA7327518SERPINA1c.286A>G (p.Thr96Ala)
c.28A>G (p.Thr10Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382952T>GCA390850395SERPINA1c.286A>C (p.Thr96Pro)
c.28A>C (p.Thr10Pro)
14g.94382952T=CA2155954858SERPINA1c.286A= (p.Thr96=)
c.28A= (p.Thr10=)
14g.94382953G>ACA487841348SERPINA1c.285C>T (p.Asp95=)
c.27C>T (p.Asp9=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382953G>CCA390850396SERPINA1c.285C>G (p.Asp95Glu)
c.27C>G (p.Asp9Glu)
14g.94382953G=CA2155954859SERPINA1c.285C= (p.Asp95=)
c.27C= (p.Asp9=)
14g.94382953G>TCA265864168SERPINA1c.285C>A (p.Asp95Glu)
c.27C>A (p.Asp9Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched