Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATCCA2155954756SERPINA1c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=)
c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=)
14g.94382740_94382769delCA7327484SERPINA1c.469_498del (p.Asp157_Ala166del)
c.211_240del (p.Asp71_Ala80del)
dbSNP ExAC gnomAD v2 gnomAD v4
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=)
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