Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
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
14g.94382882C>GCA265864149SERPINA1c.356G>C (p.Gly119Ala)
c.98G>C (p.Gly33Ala)
dbSNP gnomAD
14g.94382882C>TCA390850200SERPINA1c.356G>A (p.Gly119Asp)
c.98G>A (p.Gly33Asp)
gnomAD 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)
14g.94382884T>ACA390850206SERPINA1c.354A>T (p.Glu118Asp)
c.96A>T (p.Glu32Asp)
14g.94382884T>CCA487841174SERPINA1c.354A>G (p.Glu118=)
c.96A>G (p.Glu32=)
14g.94382884T>GCA390850207SERPINA1c.354A>C (p.Glu118Asp)
c.96A>C (p.Glu32Asp)
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.94382887A>CCA390850218SERPINA1c.351T>G (p.His117Gln)
c.93T>G (p.His31Gln)
14g.94382887A>GCA487841182SERPINA1c.351T>C (p.His117=)
c.93T>C (p.His31=)
14g.94382887A>TCA390850219SERPINA1c.351T>A (p.His117Gln)
c.93T>A (p.His31Gln)
14g.94382888T>ACA390850221SERPINA1c.350A>T (p.His117Leu)
c.92A>T (p.His31Leu)
14g.94382888T>CCA390850223SERPINA1c.350A>G (p.His117Arg)
c.92A>G (p.His31Arg)
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
14g.94382889G>CCA390850229SERPINA1c.349C>G (p.His117Asp)
c.91C>G (p.His31Asp)
14g.94382889G>TCA390850227SERPINA1c.349C>A (p.His117Asn)
c.91C>A (p.His31Asn)
14g.94382890G>ACA487841193SERPINA1c.348C>T (p.Ile116=)
c.90C>T (p.Ile30=)
14g.94382890G>CCA7327511SERPINA1c.348C>G (p.Ile116Met)
c.90C>G (p.Ile30Met)
ClinVar dbSNP ExAC gnomAD
14g.94382890G>TCA487841194SERPINA1c.348C>A (p.Ile116=)
c.90C>A (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.94382893C>ACA390850239SERPINA1c.345G>T (p.Gln115His)
c.87G>T (p.Gln29His)
gnomAD
14g.94382893C>GCA390850237SERPINA1c.345G>C (p.Gln115His)
c.87G>C (p.Gln29His)
14g.94382893C>TCA487841204SERPINA1c.345G>A (p.Gln115=)
c.87G>A (p.Gln29=)
14g.94382894T>ACA390850241SERPINA1c.344A>T (p.Gln115Leu)
c.86A>T (p.Gln29Leu)
14g.94382894T>CCA390850243SERPINA1c.344A>G (p.Gln115Arg)
c.86A>G (p.Gln29Arg)

Number of alleles fetched