Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378474T>ACA390847321SERPINA1c.1232A>T (p.Lys411Ile)
c.*531A>T (n.*531A>T)
14g.94378474T>CCA390847322SERPINA1c.1232A>G (p.Lys411Arg)
c.*531A>G (n.*531A>G)
14g.94378474T>GCA390847323SERPINA1c.1232A>C (p.Lys411Thr)
c.*531A>C (n.*531A>C)
14g.94378475T>ACA390847324SERPINA1c.1231A>T (p.Lys411Ter)
c.*530A>T (n.*530A>T)
14g.94378475T>CCA390847325SERPINA1c.1231A>G (p.Lys411Glu)
c.*530A>G (n.*530A>G)
14g.94378475T>GCA390847326SERPINA1c.1231A>C (p.Lys411Gln)
c.*530A>C (n.*530A>C)
14g.94378476T>ACA487621094SERPINA1c.1230A>T (p.Gly410=)
c.*529A>T (n.*529A>T)
14g.94378476T>CCA487621096SERPINA1c.1230A>G (p.Gly410=)
c.*529A>G (n.*529A>G)
14g.94378476T>GCA487621095SERPINA1c.1230A>C (p.Gly410=)
c.*529A>C (n.*529A>C)
14g.94378477C>ACA390847327SERPINA1c.1229G>T (p.Gly410Val)
c.*528G>T (n.*528G>T)
14g.94378477C=CA2155953374SERPINA1c.1229G= (p.Gly410=)
c.*528G= (n.*528G=)
14g.94378477C>GCA390847328SERPINA1c.1229G>C (p.Gly410Ala)
c.*528G>C (n.*528G>C)
14g.94378477C>TCA390847329SERPINA1c.1229G>A (p.Gly410Glu)
c.*528G>A (n.*528G>A)
COSMIC
14g.94378478C>ACA390847330SERPINA1c.1228G>T (p.Gly410Ter)
c.*527G>T (n.*527G>T)
14g.94378478C>GCA390847331SERPINA1c.1228G>C (p.Gly410Arg)
c.*527G>C (n.*527G>C)
14g.94378478C>TCA390847332SERPINA1c.1228G>A (p.Gly410Arg)
c.*527G>A (n.*527G>A)
COSMIC
14g.94378479C>ACA390847334SERPINA1c.1227G>T (p.Met409Ile)
c.*526G>T (n.*526G>T)
14g.94378479C>GCA390847335SERPINA1c.1227G>C (p.Met409Ile)
c.*526G>C (n.*526G>C)
14g.94378479C>TCA390847333SERPINA1c.1227G>A (p.Met409Ile)
c.*526G>A (n.*526G>A)
14g.94378480A=CA2155953375SERPINA1c.1226T= (p.Met409=)
c.*525T= (n.*525T=)
14g.94378480A>CCA390847336SERPINA1c.1226T>G (p.Met409Arg)
c.*525T>G (n.*525T>G)
14g.94378480A>GCA390847337SERPINA1c.1226T>C (p.Met409Thr)
c.*525T>C (n.*525T>C)
ClinVar gnomAD
14g.94378480A>TCA390847339SERPINA1c.1226T>A (p.Met409Lys)
c.*525T>A (n.*525T>A)
14g.94378481T>ACA390847342SERPINA1c.1225A>T (p.Met409Leu)
c.*524A>T (n.*524A>T)
14g.94378481T>CCA7327247SERPINA1c.1225A>G (p.Met409Val)
c.*524A>G (n.*524A>G)
ClinVar dbSNP ExAC gnomAD
14g.94378481T>GCA390847345SERPINA1c.1225A>C (p.Met409Leu)
c.*524A>C (n.*524A>C)
14g.94378481T=CA2155953376SERPINA1c.1225A= (p.Met409=)
c.*524A= (n.*524A=)
14g.94378482G>ACA487621097SERPINA1c.1224C>T (p.Phe408=)
c.*523C>T (n.*523C>T)
14g.94378482G>CCA390847349SERPINA1c.1224C>G (p.Phe408Leu)
c.*523C>G (n.*523C>G)
14g.94378482G>TCA390847351SERPINA1c.1224C>A (p.Phe408Leu)
c.*523C>A (n.*523C>A)
14g.94378483A>CCA390847354SERPINA1c.1223T>G (p.Phe408Cys)
c.*522T>G (n.*522T>G)
14g.94378483A>GCA390847357SERPINA1c.1223T>C (p.Phe408Ser)
c.*522T>C (n.*522T>C)
14g.94378483A>TCA390847360SERPINA1c.1223T>A (p.Phe408Tyr)
c.*522T>A (n.*522T>A)
14g.94378484A>CCA390847363SERPINA1c.1222T>G (p.Phe408Val)
c.*521T>G (n.*521T>G)
14g.94378484A>GCA390847365SERPINA1c.1222T>C (p.Phe408Leu)
c.*521T>C (n.*521T>C)
14g.94378484A>TCA390847367SERPINA1c.1222T>A (p.Phe408Ile)
c.*521T>A (n.*521T>A)
14g.94378485G>ACA7327248SERPINA1c.1221C>T (p.Leu407=)
c.*520C>T (n.*520C>T)
ClinVar dbSNP ExAC gnomAD
14g.94378485G>CCA487621099SERPINA1c.1221C>G (p.Leu407=)
c.*520C>G (n.*520C>G)
14g.94378485G=CA2155953377SERPINA1c.1221C= (p.Leu407=)
c.*520C= (n.*520C=)
14g.94378485G>TCA487621098SERPINA1c.1221C>A (p.Leu407=)
c.*520C>A (n.*520C>A)
14g.94378486A=CA2155953378SERPINA1c.1220T= (p.Leu407=)
c.*519T= (n.*519T=)
14g.94378486A>CCA265860594SERPINA1c.1220T>G (p.Leu407Arg)
c.*519T>G (n.*519T>G)
dbSNP gnomAD
14g.94378486A>GCA390847374SERPINA1c.1220T>C (p.Leu407Pro)
c.*519T>C (n.*519T>C)
14g.94378486A>TCA390847376SERPINA1c.1220T>A (p.Leu407His)
c.*519T>A (n.*519T>A)
14g.94378487G>ACA390847378SERPINA1c.1219C>T (p.Leu407Phe)
c.*518C>T (n.*518C>T)
14g.94378487G>CCA390847380SERPINA1c.1219C>G (p.Leu407Val)
c.*518C>G (n.*518C>G)
COSMIC
14g.94378487G=CA2155953379SERPINA1c.1219C= (p.Leu407=)
c.*518C= (n.*518C=)
14g.94378487G>TCA390847382SERPINA1c.1219C>A (p.Leu407Ile)
c.*518C>A (n.*518C>A)
14g.94378488G>ACA487621100SERPINA1c.1218C>T (p.Pro406=)
c.*517C>T (n.*517C>T)
14g.94378488G>CCA487621101SERPINA1c.1218C>G (p.Pro406=)
c.*517C>G (n.*517C>G)

Number of alleles fetched