Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382865G>ACA7327509SERPINA1c.373C>T (p.Arg125Cys)
c.115C>T (p.Arg39Cys)
dbSNP ExAC gnomAD COSMIC
14g.94382865G>CCA390850137SERPINA1c.373C>G (p.Arg125Gly)
c.115C>G (p.Arg39Gly)
14g.94382865G>TCA390850135SERPINA1c.373C>A (p.Arg125Ser)
c.115C>A (p.Arg39Ser)
14g.94382866G>ACA487841132SERPINA1c.372C>T (p.Leu124=)
c.114C>T (p.Leu38=)
14g.94382866G>CCA487841133SERPINA1c.372C>G (p.Leu124=)
c.114C>G (p.Leu38=)
14g.94382866G>TCA487841134SERPINA1c.372C>A (p.Leu124=)
c.114C>A (p.Leu38=)
14g.94382867A>CCA390850139SERPINA1c.371T>G (p.Leu124Arg)
c.113T>G (p.Leu38Arg)
14g.94382867A>GCA390850141SERPINA1c.371T>C (p.Leu124Pro)
c.113T>C (p.Leu38Pro)
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=)
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)
14g.94382871G>CCA390850156SERPINA1c.367C>G (p.Leu123Val)
c.109C>G (p.Leu37Val)
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
14g.94382872T>GCA390850160SERPINA1c.366A>C (p.Glu122Asp)
c.108A>C (p.Glu36Asp)
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)
gnomAD
14g.94382876T>GCA390850181SERPINA1c.362A>C (p.Gln121Pro)
c.104A>C (p.Gln35Pro)
14g.94382877G>ACA390850185SERPINA1c.361C>T (p.Gln121Ter)
c.103C>T (p.Gln35Ter)
14g.94382877G>CCA390850183SERPINA1c.361C>G (p.Gln121Glu)
c.103C>G (p.Gln35Glu)
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)
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)
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=)
14g.94382881G>CCA487841165SERPINA1c.357C>G (p.Gly119=)
c.99C>G (p.Gly33=)

Number of alleles fetched