Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched